From University of Washington (US) School of Medicine : “Study links autism to new set of rare gene variants”

From University of Washington (US) School of Medicine

July 26, 2021

Brian Donohue
206.543.7856
bdonohue@uw.edu

The effects of these newly identified genes are unknown but some are associated with protein networks known to play a role in autism.

A child with autism plays with blocks. Credit: University of Washington (US) School of Medicine./Getty Images.

“These ultra-rare variants involve a set of genes that have not been associated with autism before,” said Amy B. Wilfert, a senior research fellow in the Department of Genome Sciences at the University of Washington School of Medicine. She was the lead author of the report published July 26 in the journal Nature Genetics. Evan Eichler, UW professor of genome sciences, led the team that conducted the study.

The findings should help researchers better understand how the genetic risk of developing autism is inherited and how mutations in these variants might contribute to the disorder.

Autism, or autism spectrum disorder (ASD), affects about 1 in 59 children in the United States. The exact cause is unknown, but certain genes with deleterious mutation are known to increase the risk of developing the disorder.

To date, most research has focused on genes with mutations not found in the parents’ genomes but which originate in the sperm, the egg, or very early in the development of the fertilized egg. Such “de novo” variants have been shown to greatly increase a child’s risk of developing ASD, but account for a relatively small percentage of cases.

To better understand how children might inherit mutations in genes from a parent that put them at risk of developing ASD, the Seattle researchers and their collaborators looked for variants in genes so rare that they appeared in only one parent in a study group involving thousands of families. Such variants are called ultra-rare or private variants.

To find these ultra-rare variants, the researchers examined the genome sequences of nearly 3,500 families that had at least one child with ASD. They limited their search to changes in the genes that would likely disable the gene, called likely-gene disruptive (LGD) variants. They then repeated the analysis in a larger dataset of nearly 6,000 families. Overall, they analyzed nearly 35,000 genomes.

In the end, they identified 163 candidate genes with private LGD variants that collectively increase the risk of ASD. These genes had not been previously identified as ASD-risk genes by studies of de novo variants. The researchers estimate these mutations in these genes may account for as much as 4.5% of autism cases. That’s on par with the percentage ascribed to the more intensely studied de novo variants.

Inheriting one or more of these variants is not enough to cause ASD as none of the parents who carried the variants had ASD, the researchers found. Some additional factors, either genetic or environmental, must therefore have to be present for the child to go on to develop ASD. This finding supports the theory that changes in multiple genes must be present for a child to develop ASD, known as the “multi-hit” model. “Our study suggests that one inherited mutation is not enough,” said Wilfert. “You need at least one other mutation to push a child over the threshold required to be diagnosed with autism.”

One reason why these variants are so rare is that they appear to be relatively short-lived, persisting in a family for only a few generations, perhaps because those children that inherit them are less likely to go on to have children of their own, the researchers said.

Just how these ultra-rare variants increase a child’s risk of ASD is unknown, Wilfert said, but many of the genes are involved in protein networks that play a role in biochemical pathways that have been previously linked to the development of ASD.

“The availability of large whole genome and exome datasets made it possible to identify such rare variants. Without the sequencing efforts by our collaborators at the Centers for Common Disease Genomics, and the study coordination efforts from Simons Foundation this study would have been impossible,” she said. “Our findings won’t be brought into the clinic tomorrow,” Wilfert said, “but they do give researchers new areas to focus on and may lead to clinically relevant knowledge in the future.”

Study collaborators included researchers from the Allen Institute for Brain Science in Seattle, the New York Genome Center in New York, and the Center for Medical Genetic & Hunan Key Laboratory of Medical Genetics, Central South University, in Changsha, China.

This work was supported in part by grants from the National Institutes of Health (US) (R01 MH101221, R01 MH100047, K99 MH117165, K99 HG011041, UM1 HG008901); The National Human Genome Research Institute (US); The National Heart, Lung, and Blood Institute (US); The Genome Sequencing Program Coordinating Center (U24 HG008956); The National Institute of Mental Health (US) via Autism Speaks (1U24MH081810); The Howard Hughes Medical Institute (US); and The Simons Foundation (US).

See the full article here .

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Please help promote STEM in your local schools.

Stem Education Coalition

The University of Washington School of Medicine (UWSOM) is a large public medical school in the northwest United States, located in Seattle and affiliated with the University of Washington. According to U.S. News & World Report’s 2022 Best Graduate School rankings, University of Washington School of Medicine ranked #1 in the nation for primary care education, and #7 for research.

UWSOM is the first public medical school in the states of Washington, Wyoming, Alaska, Montana, and Idaho. The school maintains a network of teaching facilities in more than 100 towns and cities across the five-state region. As part of this “WWAMI” partnership, medical students from Wyoming, Alaska, Montana, and Idaho spend their first year and a half at The University of Wyoming (US), The University of Alaska-Anchorage (US), Montana State University (US), or The University of Idaho (US), respectively. In addition, sixty first-year students and forty second-year students from Washington are based at Gonzaga University (US) in Spokane. Preference is given to residents of the WWAMI states.

The University of Washington (US) is one of the world’s preeminent public universities. Our impact on individuals, on our region, and on the world is profound — whether we are launching young people into a boundless future or confronting the grand challenges of our time through undaunted research and scholarship. Ranked number 10 in the world in Shanghai Jiao Tong University rankings and educating more than 54,000 students annually, our students and faculty work together to turn ideas into impact and in the process transform lives and our world. For more about our impact on the world, every day.

So what defines us —the students, faculty and community members at the University of Washington? Above all, it’s our belief in possibility and our unshakable optimism. It’s a connection to others, both near and far. It’s a hunger that pushes us to tackle challenges and pursue progress. It’s the conviction that together we can create a world of good. Join us on the journey.

The University of Washington (US) is a public research university in Seattle, Washington, United States. Founded in 1861, University of Washington is one of the oldest universities on the West Coast; it was established in downtown Seattle approximately a decade after the city’s founding to aid its economic development. Today, the university’s 703-acre main Seattle campus is in the University District above the Montlake Cut, within the urban Puget Sound region of the Pacific Northwest. The university has additional campuses in Tacoma and Bothell. Overall, University of Washington encompasses over 500 buildings and over 20 million gross square footage of space, including one of the largest library systems in the world with more than 26 university libraries, as well as the UW Tower, lecture halls, art centers, museums, laboratories, stadiums, and conference centers. The university offers bachelor’s, master’s, and doctoral degrees through 140 departments in various colleges and schools, sees a total student enrollment of roughly 46,000 annually, and functions on a quarter system.

University of Washington is a member of the Association of American Universities(US) and is classified among “R1: Doctoral Universities – Very high research activity”. According to the National Science Foundation(US), UW spent $1.41 billion on research and development in 2018, ranking it 5th in the nation. As the flagship institution of the six public universities in Washington state, it is known for its medical, engineering and scientific research as well as its highly competitive computer science and engineering programs. Additionally, University of Washington continues to benefit from its deep historic ties and major collaborations with numerous technology giants in the region, such as Amazon, Boeing, Nintendo, and particularly Microsoft. Paul G. Allen, Bill Gates and others spent significant time at Washington computer labs for a startup venture before founding Microsoft and other ventures. The University of Washington’s 22 varsity sports teams are also highly competitive, competing as the Huskies in the Pac-12 Conference of the NCAA Division I, representing the United States at the Olympic Games, and other major competitions.

The university has been affiliated with many notable alumni and faculty, including 21 Nobel Prize laureates and numerous Pulitzer Prize winners, Fulbright Scholars, Rhodes Scholars and Marshall Scholars.

In 1854, territorial governor Isaac Stevens recommended the establishment of a university in the Washington Territory. Prominent Seattle-area residents, including Methodist preacher Daniel Bagley, saw this as a chance to add to the city’s potential and prestige. Bagley learned of a law that allowed United States territories to sell land to raise money in support of public schools. At the time, Arthur A. Denny, one of the founders of Seattle and a member of the territorial legislature, aimed to increase the city’s importance by moving the territory’s capital from Olympia to Seattle. However, Bagley eventually convinced Denny that the establishment of a university would assist more in the development of Seattle’s economy. Two universities were initially chartered, but later the decision was repealed in favor of a single university in Lewis County provided that locally donated land was available. When no site emerged, Denny successfully petitioned the legislature to reconsider Seattle as a location in 1858.

In 1861, scouting began for an appropriate 10 acres (4 ha) site in Seattle to serve as a new university campus. Arthur and Mary Denny donated eight acres, while fellow pioneers Edward Lander, and Charlie and Mary Terry, donated two acres on Denny’s Knoll in downtown Seattle. More specifically, this tract was bounded by 4th Avenue to the west, 6th Avenue to the east, Union Street to the north, and Seneca Streets to the south.

John Pike, for whom Pike Street is named, was the university’s architect and builder. It was opened on November 4, 1861, as the Territorial University of Washington. The legislature passed articles incorporating the University, and establishing its Board of Regents in 1862. The school initially struggled, closing three times: in 1863 for low enrollment, and again in 1867 and 1876 due to funds shortage. University of Washington awarded its first graduate Clara Antoinette McCarty Wilt in 1876, with a bachelor’s degree in science.

19th century relocation

By the time Washington state entered the Union in 1889, both Seattle and the University had grown substantially. University of Washington’s total undergraduate enrollment increased from 30 to nearly 300 students, and the campus’s relative isolation in downtown Seattle faced encroaching development. A special legislative committee, headed by University of Washington graduate Edmond Meany, was created to find a new campus to better serve the growing student population and faculty. The committee eventually selected a site on the northeast of downtown Seattle called Union Bay, which was the land of the Duwamish, and the legislature appropriated funds for its purchase and construction. In 1895, the University relocated to the new campus by moving into the newly built Denny Hall. The University Regents tried and failed to sell the old campus, eventually settling with leasing the area. This would later become one of the University’s most valuable pieces of real estate in modern-day Seattle, generating millions in annual revenue with what is now called the Metropolitan Tract. The original Territorial University building was torn down in 1908, and its former site now houses the Fairmont Olympic Hotel.

The sole-surviving remnants of Washington’s first building are four 24-foot (7.3 m), white, hand-fluted cedar, Ionic columns. They were salvaged by Edmond S. Meany, one of the University’s first graduates and former head of its history department. Meany and his colleague, Dean Herbert T. Condon, dubbed the columns as “Loyalty,” “Industry,” “Faith”, and “Efficiency”, or “LIFE.” The columns now stand in the Sylvan Grove Theater.

20th century expansion

Organizers of the 1909 Alaska-Yukon-Pacific Exposition eyed the still largely undeveloped campus as a prime setting for their world’s fair. They came to an agreement with Washington’s Board of Regents that allowed them to use the campus grounds for the exposition, surrounding today’s Drumheller Fountain facing towards Mount Rainier. In exchange, organizers agreed Washington would take over the campus and its development after the fair’s conclusion. This arrangement led to a detailed site plan and several new buildings, prepared in part by John Charles Olmsted. The plan was later incorporated into the overall University of Washington campus master plan, permanently affecting the campus layout.

Both World Wars brought the military to campus, with certain facilities temporarily lent to the federal government. In spite of this, subsequent post-war periods were times of dramatic growth for the University. The period between the wars saw a significant expansion of the upper campus. Construction of the Liberal Arts Quadrangle, known to students as “The Quad,” began in 1916 and continued to 1939. The University’s architectural centerpiece, Suzzallo Library, was built in 1926 and expanded in 1935.

After World War II, further growth came with the G.I. Bill. Among the most important developments of this period was the opening of the School of Medicine in 1946, which is now consistently ranked as the top medical school in the United States. It would eventually lead to the University of Washington Medical Center, ranked by U.S. News and World Report as one of the top ten hospitals in the nation.

In 1942, all persons of Japanese ancestry in the Seattle area were forced into inland internment camps as part of Executive Order 9066 following the attack on Pearl Harbor. During this difficult time, university president Lee Paul Sieg took an active and sympathetic leadership role in advocating for and facilitating the transfer of Japanese American students to universities and colleges away from the Pacific Coast to help them avoid the mass incarceration. Nevertheless many Japanese American students and “soon-to-be” graduates were unable to transfer successfully in the short time window or receive diplomas before being incarcerated. It was only many years later that they would be recognized for their accomplishments during the University of Washington’s Long Journey Home ceremonial event that was held in May 2008.

From 1958 to 1973, the University of Washington saw a tremendous growth in student enrollment, its faculties and operating budget, and also its prestige under the leadership of Charles Odegaard. University of Washington student enrollment had more than doubled to 34,000 as the baby boom generation came of age. However, this era was also marked by high levels of student activism, as was the case at many American universities. Much of the unrest focused around civil rights and opposition to the Vietnam War. In response to anti-Vietnam War protests by the late 1960s, the University Safety and Security Division became the University of Washington Police Department.

Odegaard instituted a vision of building a “community of scholars”, convincing the Washington State legislatures to increase investment in the University. Washington senators, such as Henry M. Jackson and Warren G. Magnuson, also used their political clout to gather research funds for the University of Washington. The results included an increase in the operating budget from $37 million in 1958 to over $400 million in 1973, solidifying University of Washington as a top recipient of federal research funds in the United States. The establishment of technology giants such as Microsoft, Boeing and Amazon in the local area also proved to be highly influential in the University of Washington’s fortunes, not only improving graduate prospects but also helping to attract millions of dollars in university and research funding through its distinguished faculty and extensive alumni network.

21st century

In 1990, the University of Washington opened its additional campuses in Bothell and Tacoma. Although originally intended for students who have already completed two years of higher education, both schools have since become four-year universities with the authority to grant degrees. The first freshman classes at these campuses started in fall 2006. Today both Bothell and Tacoma also offer a selection of master’s degree programs.

In 2012, the University began exploring plans and governmental approval to expand the main Seattle campus, including significant increases in student housing, teaching facilities for the growing student body and faculty, as well as expanded public transit options. The University of Washington light rail station was completed in March 2015, connecting Seattle’s Capitol Hill neighborhood to the University of Washington Husky Stadium within five minutes of rail travel time. It offers a previously unavailable option of transportation into and out of the campus, designed specifically to reduce dependence on private vehicles, bicycles and local King County buses.

University of Washington has been listed as a “Public Ivy” in Greene’s Guides since 2001, and is an elected member of the American Association of Universities. Among the faculty by 2012, there have been 151 members of American Association for the Advancement of Science, 68 members of the National Academy of Sciences(US), 67 members of the American Academy of Arts and Sciences, 53 members of the National Academy of Medicine(US), 29 winners of the Presidential Early Career Award for Scientists and Engineers, 21 members of the National Academy of Engineering(US), 15 Howard Hughes Medical Institute Investigators, 15 MacArthur Fellows, 9 winners of the Gairdner Foundation International Award, 5 winners of the National Medal of Science, 7 Nobel Prize laureates, 5 winners of Albert Lasker Award for Clinical Medical Research, 4 members of the American Philosophical Society, 2 winners of the National Book Award, 2 winners of the National Medal of Arts, 2 Pulitzer Prize winners, 1 winner of the Fields Medal, and 1 member of the National Academy of Public Administration. Among UW students by 2012, there were 136 Fulbright Scholars, 35 Rhodes Scholars, 7 Marshall Scholars and 4 Gates Cambridge Scholars. UW is recognized as a top producer of Fulbright Scholars, ranking 2nd in the US in 2017.

The Academic Ranking of World Universities (ARWU) has consistently ranked University of Washington as one of the top 20 universities worldwide every year since its first release. In 2019, University of Washington ranked 14th worldwide out of 500 by the ARWU, 26th worldwide out of 981 in the Times Higher Education World University Rankings, and 28th worldwide out of 101 in the Times World Reputation Rankings. Meanwhile, QS World University Rankings ranked it 68th worldwide, out of over 900.

U.S. News & World Report ranked University of Washington 8th out of nearly 1,500 universities worldwide for 2021, with University of Washington’s undergraduate program tied for 58th among 389 national universities in the U.S. and tied for 19th among 209 public universities.

In 2019, it ranked 10th among the universities around the world by SCImago Institutions Rankings. In 2017, the Leiden Ranking, which focuses on science and the impact of scientific publications among the world’s 500 major universities, ranked University of Washington 12th globally and 5th in the U.S.

In 2019, Kiplinger Magazine’s review of “top college values” named University of Washington 5th for in-state students and 10th for out-of-state students among U.S. public colleges, and 84th overall out of 500 schools. In the Washington Monthly National University Rankings University of Washington was ranked 15th domestically in 2018, based on its contribution to the public good as measured by social mobility, research, and promoting public service.

From Penn Today: “A tool for more inclusive autism screening”

From Penn Today

March 16, 2021

Screening tools for autism spectrum disorder (ASD) often fail to identify ASD among children from low-income families and racial/ethnic minority groups, particularly when English is not the family’s primary language. A new visually-based tool may reduce these disparities at a pivotal point in children’s development.

In Pediatrics, Zuleyha Cidav, David Mandell, and colleagues found that the Developmental Check-In Tool (DCI) can accurately identify ASD risk among young children from families that have low income or speak English as a second language.

Most of the sample was Hispanic, enrolled in Medicaid or uninsured, and from families where English was not the primary language. The DCI is written in both English and Spanish, and it includes 26 pictures in four domains: communication, play, social, and behavior. Each picture includes a brief description.

Consistent with an earlier study [NIH], the DCI showed a good ability to distinguish between children with ASD and children without ASD, performing well across all age groups, genders, levels of maternal education, primary language, and racial/ethnic groups included in the study.

The DCI can improve ASD identification among children from families with low literacy or limited English proficiency. Even though ASD can be diagnosed in children as young as 18 months, on average, children in the U.S. receive an ASD diagnosis at age four. Earlier recognition of ASD is critical for early intervention and improved functional outcomes. While the disparity in ASD diagnoses between Black and white children has improved over time, Hispanic children continue to be diagnosed at a lower rate. The DCI could lead to earlier and more accurate ASD diagnoses for this group.

See the full article here .

five-ways-keep-your-child-safe-school-shootings

Please help promote STEM in your local schools.

Stem Education Coalition

Academic life at Penn is unparalleled, with 100 countries and every U.S. state represented in one of the Ivy League’s most diverse student bodies. Consistently ranked among the top 10 universities in the country, Penn enrolls 10,000 undergraduate students and welcomes an additional 10,000 students to our world-renowned graduate and professional schools.

Penn’s award-winning educators and scholars encourage students to pursue inquiry and discovery, follow their passions, and address the world’s most challenging problems through an interdisciplinary approach.

The University of Pennsylvania(US) is a private Ivy League research university in Philadelphia, Pennsylvania. The university claims a founding date of 1740 and is one of the nine colonial colleges chartered prior to the U.S. Declaration of Independence. Benjamin Franklin, Penn’s founder and first president, advocated an educational program that trained leaders in commerce, government, and public service, similar to a modern liberal arts curriculum.

Penn has four undergraduate schools as well as twelve graduate and professional schools. Schools enrolling undergraduates include the College of Arts and Sciences; the School of Engineering and Applied Science; the Wharton School; and the School of Nursing. Penn’s “One University Policy” allows students to enroll in classes in any of Penn’s twelve schools. Among its highly ranked graduate and professional schools are a law school whose first professor wrote the first draft of the United States Constitution, the first school of medicine in North America (Perelman School of Medicine, 1765), and the first collegiate business school (Wharton School, 1881).

Penn is also home to the first “student union” building and organization (Houston Hall, 1896), the first Catholic student club in North America (Newman Center, 1893), the first double-decker college football stadium (Franklin Field, 1924 when second deck was constructed), and Morris Arboretum, the official arboretum of the Commonwealth of Pennsylvania. The first general-purpose electronic computer (ENIAC) was developed at Penn and formally dedicated in 1946. In 2019, the university had an endowment of $14.65 billion, the sixth-largest endowment of all universities in the United States, as well as a research budget of $1.02 billion. The university’s athletics program, the Quakers, fields varsity teams in 33 sports as a member of the NCAA Division I Ivy League conference.

As of 2018, distinguished alumni and/or Trustees include three U.S. Supreme Court justices; 32 U.S. senators; 46 U.S. governors; 163 members of the U.S. House of Representatives; eight signers of the Declaration of Independence and seven signers of the U.S. Constitution (four of whom signed both representing two-thirds of the six people who signed both); 24 members of the Continental Congress; 14 foreign heads of state and two presidents of the United States, including Donald Trump. As of October 2019, 36 Nobel laureates; 80 members of the American Academy of Arts and Sciences(US); 64 billionaires; 29 Rhodes Scholars; 15 Marshall Scholars and 16 Pulitzer Prize winners have been affiliated with the university.

History

The University of Pennsylvania considers itself the fourth-oldest institution of higher education in the United States, though this is contested by Princeton University(US) and Columbia(US) Universities. The university also considers itself as the first university in the United States with both undergraduate and graduate studies.

In 1740, a group of Philadelphians joined together to erect a great preaching hall for the traveling evangelist George Whitefield, who toured the American colonies delivering open-air sermons. The building was designed and built by Edmund Woolley and was the largest building in the city at the time, drawing thousands of people the first time it was preached in. It was initially planned to serve as a charity school as well, but a lack of funds forced plans for the chapel and school to be suspended. According to Franklin’s autobiography, it was in 1743 when he first had the idea to establish an academy, “thinking the Rev. Richard Peters a fit person to superintend such an institution”. However, Peters declined a casual inquiry from Franklin and nothing further was done for another six years. In the fall of 1749, now more eager to create a school to educate future generations, Benjamin Franklin circulated a pamphlet titled Proposals Relating to the Education of Youth in Pensilvania, his vision for what he called a “Public Academy of Philadelphia”. Unlike the other colonial colleges that existed in 1749—Harvard University(US), William & Mary(US), Yale Unversity(US), and The College of New Jersey(US)—Franklin’s new school would not focus merely on education for the clergy. He advocated an innovative concept of higher education, one which would teach both the ornamental knowledge of the arts and the practical skills necessary for making a living and doing public service. The proposed program of study could have become the nation’s first modern liberal arts curriculum, although it was never implemented because Anglican priest William Smith (1727-1803), who became the first provost, and other trustees strongly preferred the traditional curriculum.

Franklin assembled a board of trustees from among the leading citizens of Philadelphia, the first such non-sectarian board in America. At the first meeting of the 24 members of the board of trustees on November 13, 1749, the issue of where to locate the school was a prime concern. Although a lot across Sixth Street from the old Pennsylvania State House (later renamed and famously known since 1776 as “Independence Hall”), was offered without cost by James Logan, its owner, the trustees realized that the building erected in 1740, which was still vacant, would be an even better site. The original sponsors of the dormant building still owed considerable construction debts and asked Franklin’s group to assume their debts and, accordingly, their inactive trusts. On February 1, 1750, the new board took over the building and trusts of the old board. On August 13, 1751, the “Academy of Philadelphia”, using the great hall at 4th and Arch Streets, took in its first secondary students. A charity school also was chartered on July 13, 1753 by the intentions of the original “New Building” donors, although it lasted only a few years. On June 16, 1755, the “College of Philadelphia” was chartered, paving the way for the addition of undergraduate instruction. All three schools shared the same board of trustees and were considered to be part of the same institution. The first commencement exercises were held on May 17, 1757.

The institution of higher learning was known as the College of Philadelphia from 1755 to 1779. In 1779, not trusting then-provost the Reverend William Smith’s “Loyalist” tendencies, the revolutionary State Legislature created a University of the State of Pennsylvania. The result was a schism, with Smith continuing to operate an attenuated version of the College of Philadelphia. In 1791, the legislature issued a new charter, merging the two institutions into a new University of Pennsylvania with twelve men from each institution on the new board of trustees.

Penn has three claims to being the first university in the United States, according to university archives director Mark Frazier Lloyd: the 1765 founding of the first medical school in America made Penn the first institution to offer both “undergraduate” and professional education; the 1779 charter made it the first American institution of higher learning to take the name of “University”; and existing colleges were established as seminaries (although, as detailed earlier, Penn adopted a traditional seminary curriculum as well).

After being located in downtown Philadelphia for more than a century, the campus was moved across the Schuylkill River to property purchased from the Blockley Almshouse in West Philadelphia in 1872, where it has since remained in an area now known as University City. Although Penn began operating as an academy or secondary school in 1751 and obtained its collegiate charter in 1755, it initially designated 1750 as its founding date; this is the year that appears on the first iteration of the university seal. Sometime later in its early history, Penn began to consider 1749 as its founding date and this year was referenced for over a century, including at the centennial celebration in 1849. In 1899, the board of trustees voted to adjust the founding date earlier again, this time to 1740, the date of “the creation of the earliest of the many educational trusts the University has taken upon itself”. The board of trustees voted in response to a three-year campaign by Penn’s General Alumni Society to retroactively revise the university’s founding date to appear older than Princeton University, which had been chartered in 1746.

Research, innovations and discoveries

Penn is classified as an “R1” doctoral university: “Highest research activity.” Its economic impact on the Commonwealth of Pennsylvania for 2015 amounted to $14.3 billion. Penn’s research expenditures in the 2018 fiscal year were $1.442 billion, the fourth largest in the U.S. In fiscal year 2019 Penn received $582.3 million in funding from the National Institutes of Health(US).

In line with its well-known interdisciplinary tradition, Penn’s research centers often span two or more disciplines. In the 2010–2011 academic year alone, five interdisciplinary research centers were created or substantially expanded; these include the Center for Health-care Financing; the Center for Global Women’s Health at the Nursing School; the $13 million Morris Arboretum’s Horticulture Center; the $15 million Jay H. Baker Retailing Center at Wharton; and the $13 million Translational Research Center at Penn Medicine. With these additions, Penn now counts 165 research centers hosting a research community of over 4,300 faculty and over 1,100 postdoctoral fellows, 5,500 academic support staff and graduate student trainees. To further assist the advancement of interdisciplinary research President Amy Gutmann established the “Penn Integrates Knowledge” title awarded to selected Penn professors “whose research and teaching exemplify the integration of knowledge”. These professors hold endowed professorships and joint appointments between Penn’s schools.

Penn is also among the most prolific producers of doctoral students. With 487 PhDs awarded in 2009, Penn ranks third in the Ivy League, only behind Columbia University(US) and Cornell University(US) (Harvard University(US) did not report data). It also has one of the highest numbers of post-doctoral appointees (933 in number for 2004–2007), ranking third in the Ivy League (behind Harvard and Yale University(US)) and tenth nationally.

In most disciplines Penn professors’ productivity is among the highest in the nation and first in the fields of epidemiology, business, communication studies, comparative literature, languages, information science, criminal justice and criminology, social sciences and sociology. According to the National Research Council nearly three-quarters of Penn’s 41 assessed programs were placed in ranges including the top 10 rankings in their fields, with more than half of these in ranges including the top five rankings in these fields.

Penn’s research tradition has historically been complemented by innovations that shaped higher education. In addition to establishing the first medical school; the first university teaching hospital; the first business school; and the first student union Penn was also the cradle of other significant developments. In 1852, Penn Law was the first law school in the nation to publish a law journal still in existence (then called The American Law Register, now the Penn Law Review, one of the most cited law journals in the world). Under the deanship of William Draper Lewis, the law school was also one of the first schools to emphasize legal teaching by full-time professors instead of practitioners, a system that is still followed today. The Wharton School was home to several pioneering developments in business education. It established the first research center in a business school in 1921 and the first center for entrepreneurship center in 1973 and it regularly introduced novel curricula for which BusinessWeek wrote, “Wharton is on the crest of a wave of reinvention and change in management education”.

Several major scientific discoveries have also taken place at Penn. The university is probably best known as the place where the first general-purpose electronic computer (ENIAC) was born in 1946 at the Moore School of Electrical Engineering. It was here also where the world’s first spelling and grammar checkers were created, as well as the popular COBOL programming language. Penn can also boast some of the most important discoveries in the field of medicine. The dialysis machine used as an artificial replacement for lost kidney function was conceived and devised out of a pressure cooker by William Inouye while he was still a student at Penn Med; the Rubella and Hepatitis B vaccines were developed at Penn; the discovery of cancer’s link with genes; cognitive therapy; Retin-A (the cream used to treat acne), Resistin; the Philadelphia gene (linked to chronic myelogenous leukemia) and the technology behind PET Scans were all discovered by Penn Med researchers. More recent gene research has led to the discovery of the genes for fragile X syndrome, the most common form of inherited mental retardation; spinal and bulbar muscular atrophy, a disorder marked by progressive muscle wasting; and Charcot–Marie–Tooth disease, a progressive neurodegenerative disease that affects the hands, feet and limbs.

Conductive polymer was also developed at Penn by Alan J. Heeger, Alan MacDiarmid and Hideki Shirakawa, an invention that earned them the Nobel Prize in Chemistry. On faculty since 1965, Ralph L. Brinster developed the scientific basis for in vitro fertilization and the transgenic mouse at Penn and was awarded the National Medal of Science in 2010. The theory of superconductivity was also partly developed at Penn, by then-faculty member John Robert Schrieffer (along with John Bardeen and Leon Cooper). The university has also contributed major advancements in the fields of economics and management. Among the many discoveries are conjoint analysis, widely used as a predictive tool especially in market research; Simon Kuznets’s method of measuring Gross National Product; the Penn effect (the observation that consumer price levels in richer countries are systematically higher than in poorer ones) and the “Wharton Model” developed by Nobel-laureate Lawrence Klein to measure and forecast economic activity. The idea behind Health Maintenance Organizations also belonged to Penn professor Robert Eilers, who put it into practice during then-President Nixon’s health reform in the 1970s.

International partnerships

Students can study abroad for a semester or a year at partner institutions such as the London School of Economics(UK), University of Barcelona [Universitat de Barcelona](ES), Paris Institute of Political Studies [Institut d’études politiques de Paris](FR), University of Queensland(AU), University College London(UK), King’s College London(UK), Hebrew University of Jerusalem(IL) and University of Warwick(UK).

From The University of Texas at Dallas: “Study- Reducing Biases About Autism May Increase Social Inclusion”

From The University of Texas at Dallas

Feb. 5, 2021
Stephen Fontenot

Efforts to improve the social success of autistic adolescents and adults have often focused on teaching them ways to think and behave more like their non-autistic peers and to hide the characteristics that define them as autistic. Psychology researchers at The University of Texas at Dallas, however, have been focusing on another approach: promoting understanding and acceptance of autism among non-autistic people.

The researchers published their findings online Jan. 20 in the journal Autism. The study showed that familiarizing non-autistic people with the challenges and strengths of autistic people helped to reduce stigma and misconceptions about autism, but implicit biases about autism were harder to overcome.

Desiree Jones, a psychology doctoral student in the School of Behavioral and Brain Sciences (BBS), is the corresponding author of the paper, and Dr. Noah Sasson, associate professor of psychology, is the senior author.

Autism is characterized by differences in thinking, sensing, and communicating that can make interaction and connection with non-autistic people difficult. Some autistic people are nonspeaking and need a lot of support in their everyday lives, while some are highly verbal and need less support. Jones’ work focuses specifically on the experiences of autistic adults without intellectual disability.

“Previous work in our lab has shown that autistic people are often stereotyped as awkward and less likeable,” Jones said. “Some might think that autistic people don’t want friends or don’t want to interact with people. We want to combat those ideas.”

Promoting autism knowledge among non-autistic adults represents a shift in philosophy about how to improve the social experiences of autistic people. Jones explained that this tactic borrows from research on race and ethnicity.

“Targeting autistic behavior places the burden of social exclusion on autistic people, when we should really be challenging the attitudes that lead others to stigmatize autistic behaviors,” she said. “Research on race suggests that people who have racial biases tend to view that race as a monolith, assigning every member the same features. By exposing them to different people from the group, you can challenge those stereotypes. We believe the same principle applies to autism.”

Testing Biases

The study participants — 238 non-autistic adults — were split into three groups. One group viewed an autism acceptance video originally developed as a PowerPoint presentation by researchers at Simon Fraser University in British Columbia in collaboration with autistic adults. Jones updated it and had narration added. The second group watched a general mental health training presentation that didn’t mention autism, and the third received no training at all. Participants then were tested on their explicit and implicit biases about autism.

“The autism video presents autism facts and promotes acceptance. It gives tips on how to befriend an autistic person and talk to them about their interests,” Jones said. “It also discusses things to avoid, such as sensory overload and pressuring them into engaging.”

Subsequent testing of explicit biases included capturing first impressions of autistic adults in video clips, measuring participants’ autism knowledge and stigma, and gauging their beliefs about autistic functional abilities. Implicit biases also were examined, gauging whether participants unconsciously associate autism with negative personal attributes.

As anticipated, the autism acceptance training group demonstrated greater understanding and acceptance of autism on the explicit measures, including expressing more social interest in autistic adults and resulting in more positive first impressions. However, participants continued to implicitly associate autism with unpleasant personal attributes regardless of which training they experienced.

“Explicit biases are consciously held, evolve quickly and are constrained by social desirability,” Sasson explained. “Implicit biases reflect more durable underlying beliefs — associations reinforced over time that are more resistant to change.”

Many of the stubborn stereotypes about autism are reinforced by portrayals in the media, whether from TV shows like The Good Doctor or movies like Rain Man.

“A common trope exists of the white male autistic person with savant abilities,” Jones said. “They are really smart but very socially awkward. They can be portrayed as flat or without emotion or passion. These beliefs can be harmful and do not reflect how variable these characteristics are among autistic people. They belie the range of unique difficulties and skills that autistic people can have.

“There’s a saying that if you’ve met one autistic person, you’ve met one autistic person. The community varies so much in individual needs, strengths and difficulties that there’s not a very useful prototype. So getting to know actual people and getting away from preconceptions can hopefully help us improve social outcomes for the autistic community.”

What’s Next

Jones said that autistic individuals themselves are integral in plotting the path forward.

“Autistic people often feel that they simply aren’t listened to, that they are dismissed or not cared about,” she said. “A big part of being welcoming is simply acknowledging actual autistic people telling us what they like and what they want research to be. In our lab, we have several autistic master’s and undergraduate students who play a big role in our research, and they’ve taught me a lot.”

Sasson described the results as promising and indicative of the promise of well-done training, although the staying power of such effects remains unclear.

“This half-hour presentation was engaging and entertaining and included a lot of compelling first-person narratives,” he said. “The fact that non-autistic people experiencing the training were more interested in social interaction with autistic people, had fewer misconceptions about autism, and reported more accurate understanding of autistic abilities after completing it is a success story of sorts.

“Whether the effects persist over time is another question. It could very well be that the benefits are transient, which would significantly limit the promise of training programs like this.”

In future work, Jones and Sasson hope to establish a connection between inclusion and acceptance and the mental health and well-being of autistic people, who experience higher levels of depression, anxiety and suicide than the general population.

“It’s not easy to be autistic in a predominantly non-autistic world, and making the social world a bit more accommodating and welcoming to autistic differences could go a long way toward improving personal and professional outcomes for autistic people,” Sasson said.

BBS doctoral student Kilee DeBrabander was the third author of the study, which was funded by a grant from the Texas Higher Education Coordinating Board’s Autism Grant Program.

See the full article here .

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Please help promote STEM in your local schools.

Stem Education Coalition

The University of Texas at Dallas is a Carnegie R1 classification (Doctoral Universities – Highest research activity) institution, located in a suburban setting 20 miles north of downtown Dallas. The University enrolls more than 27,600 students — 18,380 undergraduate and 9,250 graduate —and offers a broad array of bachelor’s, master’s, and doctoral degree programs.

Established by Eugene McDermott, J. Erik Jonsson and Cecil Green, the founders of Texas Instruments, UT Dallas is a young institution driven by the entrepreneurial spirit of its founders and their commitment to academic excellence. In 1969, the public research institution joined The University of Texas System and became The University of Texas at Dallas.

A high-energy, nimble, innovative institution, UT Dallas offers top-ranked science, engineering and business programs and has gained prominence for a breadth of educational paths from audiology to arts and technology. UT Dallas’ faculty includes a Nobel laureate, six members of the National Academies and more than 560 tenured and tenure-track professors.

From Sonoma State University: “Sonoma State receives near $5 million from NASA to engage autistic learners in STEM”

From From Sonoma State University

January 26, 2021

Nate Galvan
galvanna@sonoma.edu

Sonoma State University has been awarded $4.96 million from NASA to design and implement a program that will engage students on the autism spectrum in informal STEM learning.

NASA’s Neurodiversity Network (N3) aims to broaden participation in NASA programs to include autistic and other learners with neurological differences. As part of NASA’s Science Activation Program, which is composed of teams across the nation to help learners of all ages and abilities do science, N3 will use specific learning modules to support autistic learners with the social and technical skills needed for successful STEM careers.

“I really got inspired to pursue this opportunity because everywhere I turn there seems to be autism,” said professor Lynn Cominsky, who authored the cooperative agreement application and is also the director of EdEon STEM Learning at SSU – a center meant to inspire students to pursue STEM careers. “NASA has done so much for every other demographic group, but this award is very important because research has shown how autistic learners can be so talented in STEM fields.”

Over a five-year period, hundreds of high school autistic learners in both California and New York City will engage in informal NASA activities, including building and launching rocket payloads and using SSU’s NASA funded telescope. One of the California high schools that will participate in the program is the Anova Center for Education in Santa Rosa.

“Anova is proud to be a founding partner in the NASA Neurodiversity Network along with Sonoma State University and several other excellent Bay Area schools,” said Andrew Bailey, the founding director of Anova. “Autism can be a valuable type of ‘neurological diversity’ when the autistic individual is able to participate in the pursuit of happiness unhindered by the disabling roadblocks of a divergent mind. The N3 project is an exciting opportunity for our Anova students and the entire autism community.”

As part of the program, NASA will provide subject matter experts to work as mentors for sets of students that are highly motivated in working with the curriculum. “By introducing students to NASA science, autistic learners will not only gain knowledge for future accomplishments in STEM, but it will also promote growth in their social skills and self-efficacy,” Cominsky said.

Among the program’s special consultants is Dan Swearingen, one of Cominsky’s former students from more than 25 years ago. Swearingen, who himself is autistic as well as his son, founded a program to help young adults with autism or other neurological differences to ease their transition to an independent adulthood.

“The staff and students at Autistry are excited about the NASA Neurodiversity Network,” said Dan Swearingen, who co-founded Autistry Studios with his wife Janet Lawson in Marin County. “This is a fabulous opportunity, and a rare one, for autistic students to explore STEM learning. Dr. Cominsky’s energy and ability to inspire scientific curiosity put me on the path to pursue astrophysics, and I am confident she will give this gift to our students as well.”

Other partners in the N3 team are Wendy Martin and Ariana Riccio from the nonprofit Education Development Center; Sylvia Perez and Georgette Williams from the New York Hall of Science; and Laura Peticolas, EdEon’s Associate Director. Along with Anova, other Bay Area high schools will also be participating as partners, including Oak Hill School in San Anselmo, Stanbridge Academy in San Mateo, and the Orion Academy in Moraga. The internship program that N3 will be implementing was inspired by the successful program at Orion that partners their students with scientists from the Lawrence Livermore National Laboratory in STEM-related projects.

The program began this month with the NASA Kickoff meeting for the SciAct program. Cominsky said they are currently co-developing NASA resources with autistic learners to ensure they create learning opportunities that meet their needs. For more information about NASA’s Science Activation Program, visit https://science.nasa.gov/learners.

See the full article here.

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Please help promote STEM in your local schools.

Stem Education Coalition

Sonoma State University is a public university in Rohnert Park in Sonoma County, California. It is one of the smallest members of the California State University (CSU) system. Sonoma State offers 92 Bachelor’s degrees, 19 Master’s degrees, and 11 teaching credentials.The university is a Hispanic-serving institution.

Sonoma State College was established by the California State Legislature in 1960 to be part of the California State College system, with significant involvement of the faculty from San Francisco State University. As with all California State Colleges, Sonoma State later became part of the California State University system. Sonoma opened for the first time in 1961, with an initial enrollment of 250 students. Classes offered took place in leased buildings in Rohnert Park where the college offered its first four-year Bachelor of Arts degree in Elementary Education. With the completion of its two main classroom halls, Stevenson Hall, named for politician Adlai Stevenson II, and Darwin Hall, named for Charles Darwin, the college moved to its permanent campus of 215 acres (87 ha) in 1966 where the first graduating class received their degrees.

Early development

As enrollment increased, Sonoma State built more on-campus facilities, including Ives Hall for performing arts, The University Commons for dining, a small library, and a gymnasium. These buildings followed the physical master plan of the school which stated that the facilities would be urban in character, defining the use of smooth concrete building façades with landscaped courtyards. Among the landscaping features added with these facilities were the “Campus Lakes”, two small reservoirs located behind the Commons next to Commencement Lawn, the site of the university’s annual commencement ceremonies, as well as one lake near a housing facility, Beaujolais Village; the lakes are home to local waterfowl.

In 1969, the first master’s degrees in biology and psychology were offered. The new cluster school concept, coupled with a more intense focus on the surrounding rural environment, influenced the new physical master plan. The first facility built under the new plan was the Zinfandel residence area. The new Student Health Center used a primarily redwood façade with a landscaped ground cover of wild roses and poppies. Sonoma State was closed from May 7–11, 1970 after Governor Ronald Reagan ordered that all California colleges and universities shut down due to anti-war protests and rallies after the shootings of four students at Kent State University. In 1975, Nichols Hall was built as the newest classroom hall and named in honor of Sonoma’s founding president, Ambrose R. Nichols.

Early development of the modern campus came to a close in 1976 when the Student Union was constructed between the main quad and the lakes. This building continued the use of the physical master plan, using primarily redwood and preceded the similarly built Carson Hall, an art building, a childcare center, additional parking, and a computer center which was added onto the library.

The modern university

In 1978, Sonoma State College became Sonoma State University when the school officially gained university status. In response to this achievement, the surrounding community provided funds for the new university to build a large swimming pool, completed in 1982, and the 500-seat Evert Person Theatre, 1989 and which dominates the view when entering campus through the main drive. Further enrollment increases and a new goal of movement toward a residential campus as opposed to a commuter campus facilitated the building of Verdot Village in 1995.

21st-century expansion

In May 2001, the Board of Trustees approved a new master plan, which added 48 acres (19 ha) to the campus, located north of Copeland Creek. Rapidly accelerated growth of the residential student body was alleviated by the construction of the third phase of on-campus housing named Sauvignon Village, offering housing to non-freshman students. In the same year, the Jean and Charles Schulz Information Center was completed to accommodate the expanded needs of the library and computing services. The facility was built as a prototype library and information complex for the 21st century, housing more than 400,000 volumes in its stacks. The center also houses an advanced Automated Retrieval System (ARS) which contains an additional 750,000 volumes in a computer-managed shelving system in the library wing.

From Cardiff University (UK): “Clinical criteria for diagnosing autism inadequate for people with genetic conditions research suggests”

From Cardiff University (UK)

4 January 2021

Dr Samuel Chawner
chawnersj@cardiff.ac.uk

Marianne van den Bree
Professor, Division of Psychological Medicine and Clinical Neurosciences
School of Medicine
vandenbreemb@cardiff.ac.uk
+44 (0)29 2068 8433

Hermione Hyde

People with certain genetic conditions are likely to have significant symptoms of autism, even if they do not meet all diagnostic criteria, a study concludes.

Researchers at Cardiff University say their findings show clinical services need to adapt so that people diagnosed with autism-linked genetic conditions are not denied access to vital support and interventions.

Published in The American Journal of Psychiatry, the international study analysed data from 547 people who had been diagnosed with one of four genetic conditions, also known as copy number variants (CNVs), associated with a high chance of autism – 22q11.2 deletion, 22q11.2 duplication, 16p11.2 deletion and 16p11.2 duplication.

CNVs happen when a small section of a person’s DNA is missing or duplicated. Certain CNVs have been linked to a range of health and developmental issues. They can be inherited but can also occur at random.

The results showed a high prevalence of autism in individuals with these four genetic conditions, ranging from 23% to 58%. The prevalence of autism in the general population is 1%.

Using clinical cut-offs, the team also found 54% of people with these genetic conditions who did not meet full autism diagnostic criteria nonetheless had elevated levels of autistic symptoms. There was also considerable variability in symptoms of autism between those who had the same genetic condition.

Dr Samuel Chawner, based at Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics said: “Our study shows that an individualised approach is needed when assessing the needs of people with genetic conditions. Although many of those who were included in this study would not have met all of the criteria which define someone as having autism, more than half of those with these genetic conditions had significant symptoms associated with it – such as social and communication difficulties or repetitive behaviours.

“There is a danger that being too prescriptive with how autism is diagnosed will result in these individuals slipping through the net and being denied important services. Sadly, many families we have met through doing this research describe longstanding struggles in accessing autism support for their child. This is often due to a lack of integration between genetic testing services and autism diagnosis services.”

Data for the study was pooled from eight clinical research centres around the world, which had used the “Autism Diagnostic Interview – Revised (ADI-R)” and IQ tests on study participants.

The ADI-R is used internationally in research as well as in clinical settings for making autism diagnoses. It involves an interview with the parent or guardian and asks about the child’s developmental history across areas of social skills, communication skills and repetitive behaviours.

It is estimated that 15% of autistic people and 60% of people with developmental delay have a genetic condition.

Helen Hyde’s 16-year-old daughter, Hermione, was diagnosed with 22q.11.2 Deletion when she was four. Her genetic diagnosis first came to light after it was found she had a cleft palate, which affects her speech. She has Developmental Verbal Dyspraxia (DVD), which causes difficulties with how she processes and communicates language. As a consequence Mini attends a school for pupils with language disorders where she is fully supported in her education. She has also been diagnosed with comorbid anxiety.

Hermione Hyde Credit: Helen Hyde.

Mini, as she’s known to her family, wasn’t formally diagnosed with autism until last year, even though researchers at Cardiff University and her school had previously flagged that she had autistic traits. The family have been involved in studies with Cardiff University’s Copy Number Variant research group for eight years.

“In many ways, the physical diagnosis of Mini’s cleft palate has been easier to deal with than the autism and mental health issues,” said Helen, also mum to Olivia, 19 and Edward, 23. “People have less of an understanding of Mini’s autistic traits and it’s been much harder to get the right support for her.”

Mini said: “At first I did not know what 22q was but now I understand more. My main problem is my speech. Sometimes people don’t understand me and that can make me cross. Sometimes I find lessons difficult and I need a lot of help at school.I know they can learn lots of things from these studies and this will help people with 22q in the future.”

Tracy Elliot, Head of Research and Information at charity Cerebra, said: “We know many children and families frequently have problems in accessing autism support services or face very long delays. We welcome the findings of this research that indicate that individuals with different genetic conditions could benefit from the same autism support. This reinforces the case for improved support and should ease the path for parents and children with rare conditions.”

Cardiff University is an international leader of research on genetics and neurodevelopmental conditions and Prof Marianne van den Bree has developed one of the largest research cohorts of individuals with neurodevelopmental genetic conditions in the world.

See the full article here .

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Please help promote STEM in your local schools.

Stem Education Coalition

Cardiff Unversity (UK) is and innovative university with a bold and strategic vision located in a beautiful and thriving capital city. Our research is world-leading and we provide an educationally outstanding experience for our students.

Driven by creativity and curiosity, we strive to fulfil our social, cultural and economic obligations to Cardiff, Wales, and the world.

From Harvard Medical School: “‘Hearing’ Autism”

Harvard University

From Harvard Medical School

News & Research

December 16, 2020
DAVID HOLZMAN

Image: isayildiz/Getty Images.

Autism spectrum disorder, estimated to affect one in 54 children in the United States, encompasses a range of complex neurodevelopmental conditions that typically emerge in the first few years of life. Yet for a variety of reasons, these conditions could be challenging to diagnose early when interventions are most likely to avert or mitigate some of the more serious long-term developmental consequences.

Now research led by Harvard Medical School investigators and conducted in collaboration with colleagues at the University of Miami suggests that a relatively simple hearing test—already used in newborns worldwide—could enhance screening efforts.

The study, published in Autism Research, shows that newborns with abnormal scores in their hearing results are at increased risk for a subsequent diagnosis with an autism spectrum disorder.

“Research has shown that if we could detect autism and start treating it at age 2 instead of 4, we could drastically improve outcomes among children with the condition,” said study lead author Oren Miron, a former research associate in biomedical informatics in the Blavatnik Institute at HMS who is now pursuing a doctoral degree at Ben-Gurion University of the Negev. “Universally administered newborn hearing tests could represent an untapped opportunity to enhance screening efforts and improve early detection, and we hope that our work could set the stage for doing so.”

The researchers emphasize that the test is not yet ready for frontline clinical use and their work needs to be reaffirmed in subsequent studies.

All newborns in the United States undergo a hearing screening to identify those at risk for hearing loss. The test measures how well a newborn’s inner ear and brain respond to sounds when the baby is exposed to a series of clicks. Newborns who have abnormal scores are deemed at high risk for hearing loss and other hearing disorders and are referred for further testing.

For his research, Miron, colleagues from HMS, and investigators from the University of Miami analyzed data from newborn hearing tests administered to nearly 140,000 babies born in Florida between 2009 and 2015. Then, they matched the hearing-test data with records from the Florida Department of Education to look for cases of autism spectrum disorder.

The analysis showed that 321 of the 140,000 were subsequently diagnosed with autism. The analysis further revealed that children who went on to be diagnosed with autism spectrum disorder had abnormal newborn hearing tests—their brains detected sounds with delay.

If affirmed through further research, the study findings could inform the development of an autism-specific hearing test for newborns or infants that could identify those at heightened risk during their first months of life. Such a test would not be an actual diagnosis, the researchers cautioned, but rather a screening tool to determine who needs further testing and diagnostic workup.

Despite the encouraging early findings of the research, improved accuracy and specificity are needed, said Miron, who plans a prospective follow-up study. The newborn hearing test, which is currently optimized to detect hearing impairment, needs to be refined for autism detection.

Future studies with higher-intensity, stimulus auditory brainstem responses may achieve more accurate predictions of risk, the researchers said.

Zak Kohane of HMS was senior investigator on the study. Kun-Hsing Yu of HMS was co-author on the study.

Other authors included Christine Delgado, Elizabeth Simpson, Anibal Gutierrez, and Guangyu Zeng and Rafael Delgado of the University of Miami and Jillian Gerstenberger of MEDNAX’s Pediatrix Medical Group.

The work was supported in part by the National Institutes of Health (grant 1R43DC018430–01), National Science Foundation Career Award (no. 1653737), and Harvard Data Science Fellowship.

See the full article here .

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Please help promote STEM in your local schools.

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The Harvard Medical School community is dedicated to excellence and leadership in medicine, education, research and clinical care. To achieve our highest aspirations, and to ensure the success of all members of our community, we value and promote common ideals that center on collaboration and service, diversity, respect, integrity and accountability, lifelong learning, and wellness and balance. To be a citizen of this community means embracing a collegial spirit that fosters inclusion and promotes achievement.

Harvard is the oldest institution of higher education in the United States, established in 1636 by vote of the Great and General Court of the Massachusetts Bay Colony. It was named after the College’s first benefactor, the young minister John Harvard of Charlestown, who upon his death in 1638 left his library and half his estate to the institution. A statue of John Harvard stands today in front of University Hall in Harvard Yard, and is perhaps the University’s best known landmark.

Harvard University has 12 degree-granting Schools in addition to the Radcliffe Institute for Advanced Study. The University has grown from nine students with a single master to an enrollment of more than 20,000 degree candidates including undergraduate, graduate, and professional students. There are more than 360,000 living alumni in the U.S. and over 190 other countries.

From Harvard Gazette and Broad Institute of Harvard and MIT: “New technology to investigate autism spectrum disorder”

Harvard University

From Harvard Gazette

and

From Broad Institute of Harvard and MIT

December 2, 2020
Jessica Lau

Researchers applied the Perturb-Seq method to the developing mouse brain by introducing multiple genetic changes to cells (in red) and measuring how gene expression changed in individual cells. Credit: Paola Arlotta laboratory/Harvard University.

Technology to identify potential biological mechanisms underlying autism spectrum disorder has been developed by scientists at Harvard University, the Broad Institute of MIT and Harvard, and MIT.

The “Perturb-Seq” method investigates the function of many different genes in many different cell types at once, in a living organism. Scientists applied the large-scale method to study dozens of genes that are associated with autism spectrum disorder, identifying how specific cell types in the developing mouse brain are impacted by mutations.

Published in the journal Science, the method is also broadly applicable to other organs, enabling scientists to better understand a wide range of disease and normal processes.

“For many years, genetic studies have identified a multitude of risk genes that are associated with the development of autism spectrum disorder,” said said co-senior author Paola Arlotta, the Golub Family Professor of Stem Cell and Regenerative Biology at Harvard. “The challenge in the field has been to make the connection between knowing what the genes are, to understanding how the genes actually affect cells and ultimately behavior.

“We applied the Perturb-Seq technology to an intact developing organism for the first time, showing the potential of measuring gene function at scale to better understand a complex disorder,” Arlotta explained.

The study was also led by co-senior authors Aviv Regev, who was a core member of the Broad Institute during the study and is currently executive vice president of Genentech Research and Early Development, and Feng Zhang, a core member of the Broad Institute and an investigator at MIT’s McGovern Institute.

To investigate gene function at a large scale, the researchers combined two powerful genomic technologies. They used CRISPR-Cas9 genome editing to make precise changes, or perturbations, in 35 different genes linked to autism spectrum disorder risk. Then, they analyzed changes in the developing mouse brain using single-cell RNA sequencing, which allowed them to see how gene expression changed in over 40,000 individual cells.

By looking at the level of individual cells, the researchers could compare how the risk genes affected different cell types in the cortex — the part of the brain responsible for complex functions including cognition and sensation. They analyzed networks of risk genes together to find common effects.

“We found that both neurons and glia — the non-neuronal cells in the brain — are directly affected by different sets of these risk genes,” said Xin Jin, lead author of the study and a Junior Fellow of the Harvard Society of Fellows. “Genes and molecules don’t generate cognition per se — they need to impact specific cell types in the brain to do so. We are interested in understanding how these different cell types can contribute to the disorder.”

To get a sense of the model’s potential relevance to the disorder in humans, the researchers compared their results to data from post-mortem human brains. In general, they found that in the post-mortem human brains with autism spectrum disorder, some of the key genes with altered expression were also affected in the Perturb-seq data.

“We now have a really rich dataset that allows us to draw insights, and we’re still learning a lot about it every day,” Jin said. “As we move forward with studying disease mechanisms in more depth, we can focus on the cell types that may be really important.”

“The field has been limited by the sheer time and effort that it takes to make one model at a time to test the function of single genes. Now, we have shown the potential of studying gene function in a developing organism in a scalable way, which is an exciting first step to understanding the mechanisms that lead to autism spectrum disorder and other complex psychiatric conditions, and to eventually develop treatments for these devastating conditions,” said Arlotta, who is also an institute member of the Broad Institute and part of the Broad’s Stanley Center for Psychiatric Research. “Our work also paves the way for Perturb-Seq to be applied to organs beyond the brain, to enable scientists to better understand the development or function of different tissue types, as well as pathological conditions.”

“Through genome sequencing efforts, a very large number of genes have been identified that, when mutated, are associated with human diseases. Traditionally, understanding the role of these genes would involve in-depth studies of each gene individually. By developing Perturb-seq for in vivo applications, we can start to screen all of these genes in animal models in a much more efficient manner, enabling us to understand mechanistically how mutations in these genes can lead to disease,” said Zhang, who is also the James and Patricia Poitras Professor of Neuroscience at MIT and a professor of brain and cognitive sciences and biological engineering at MIT.

See the full article here .

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Broad Institute Campus

The Eli and Edythe L. Broad Institute of Harvard and MIT is founded on two core beliefs:
This generation has a historic opportunity and responsibility to transform medicine by using systematic approaches in the biological sciences to dramatically accelerate the understanding and treatment of disease.
To fulfill this mission, we need new kinds of research institutions, with a deeply collaborative spirit across disciplines and organizations, and having the capacity to tackle ambitious challenges.

The Broad Institute is essentially an “experiment” in a new way of doing science, empowering this generation of researchers to:

Act nimbly. Encouraging creativity often means moving quickly, and taking risks on new approaches and structures that often defy conventional wisdom.
Work boldly. Meeting the biomedical challenges of this generation requires the capacity to mount projects at any scale — from a single individual to teams of hundreds of scientists.
Share openly. Seizing scientific opportunities requires creating methods, tools and massive data sets — and making them available to the entire scientific community to rapidly accelerate biomedical advancement.
Reach globally. Biomedicine should address the medical challenges of the entire world, not just advanced economies, and include scientists in developing countries as equal partners whose knowledge and experience are critical to driving progress.

Harvard University is the oldest institution of higher education in the United States, established in 1636 by vote of the Great and General Court of the Massachusetts Bay Colony. It was named after the College’s first benefactor, the young minister John Harvard of Charlestown, who upon his death in 1638 left his library and half his estate to the institution. A statue of John Harvard stands today in front of University Hall in Harvard Yard, and is perhaps the University’s best known landmark.

Harvard University has 12 degree-granting Schools in addition to the Radcliffe Institute for Advanced Study. The University has grown from nine students with a single master to an enrollment of more than 20,000 degree candidates including undergraduate, graduate, and professional students. There are more than 360,000 living alumni in the U.S. and over 190 other countries.

From University of Washington: “Sleep difficulties in the first year of life linked to altered brain development in infants who later develop autism”

From University of Washington

May 7, 2020
Kim Eckart

An 8-month-old boy wears an EEG cap to measure brain activity during a visit to the UW Autism Center.Kiyomi Taguchi/U. of Washington

Studying baby brains at UW Autism Center

Infants spend most of their first year of life asleep. Those hours are prime time for brain development, when neural connections form and sensory memories are encoded.

But when sleep is disrupted, as occurs more often among children with autism, brain development may be affected, too. New research led by the University of Washington finds that sleep problems in a baby’s first 12 months may not only precede an autism diagnosis, but also may be associated with altered growth trajectory in a key part of the brain, the hippocampus.

In a study published May 7 in the American Journal of Psychiatry, researchers report that in a sample of more than 400 6- to 12-month-old infants, those who were later diagnosed with autism were more likely to have had difficulty falling asleep. This sleep difficulty was associated with altered growth trajectories in the hippocampus.

“The hippocampus is critical for learning and memory, and changes in the size of the hippocampus have been associated with poor sleep in adults and older children. However, this is the first study we are aware of to find an association in infants as young as 6 months of age,” said lead author Kate MacDuffie, a postdoctoral researcher at the UW Autism Center.

As many as 80% of children with autism spectrum disorder have sleep problems, said Annette Estes, director of the UW Autism Center and senior author on the study. But much of the existing research, on infants with siblings who have autism, as well as the interventions designed to improve outcomes for children with autism, focus on behavior and cognition. With sleep such a critical need for children — and their parents — the researchers involved in the multicenter Infant Brain Imaging Study Network, or IBIS Network, believed there was more to be examined.

“In our clinical experience, parents have a lot of concerns about their children’s sleep, and in our work on early autism intervention, we observed that sleep problems were holding children and families back,” said Estes, who is also a UW professor of speech and hearing sciences.

Researchers launched the study, Estes said, because they had questions about how sleep and autism were related. Do sleep problems exacerbate the symptoms of autism? Or is it the other way around — that autism symptoms lead to sleep problems? Or something different altogether?

“It could be that altered sleep is part-and-parcel of autism for some children. One clue is that behavioral interventions to improve sleep don’t work for all children with autism, even when their parents are doing everything just right. This suggests that there may be a biological component to sleep problems for some children with autism,” Estes said.

To consider links among sleep, brain development and autism, researchers at the IBIS Network looked at MRI scans of 432 infants, surveyed parents about sleep patterns, and measured cognitive functioning using a standardized assessment. Researchers at four institutions — the UW, University of North Carolina at Chapel Hill, Washington University in St. Louis and the Children’s Hospital of Philadelphia — evaluated the children at 6, 12 and 24 months of age and surveyed parents about their child’s sleep, all as part of a longer questionnaire covering infant behavior. Sleep-specific questions addressed how long it took for the child to fall asleep or to fall back asleep if awakened in the middle of the night, for example.

At the outset of the study, infants were classified according to their risk for developing autism: Those who were at higher risk of developing autism — about two-thirds of the study sample — had an older sibling who had already been diagnosed. Infant siblings of children with autism have a 20 percent chance of developing autism spectrum disorder — a much higher risk than children in the general population.

A 2017 study by the IBIS Network found that infants who had an autistic older sibling and who also showed expanded cortical surface area at 6 and 12 months of age were more likely to be diagnosed with autism compared with infants without those indicators.

In the current study, 127 of the 432 infants were identified as “low risk” at the time the MRI scans were taken because they had no family history of autism. They later evaluated all the participants at 24 months of age to determine whether they had developed autism. Of the roughly 300 children originally considered “high familial risk,” 71 were diagnosed with autism spectrum disorder at that age.

Those results allowed researchers to re-examine previously collected longitudinal brain scans and behavioral data and identify some patterns. Problems with sleep were more common among the infants later diagnosed with autism spectrum disorder, as were larger hippocampi. No other subcortical brain structures were affected, including the amygdala, which is responsible for certain emotions and aspects of memory, or the thalamus, a signal transmitter from the spinal cord to the cerebral cortex.

The UW-led sleep study is the first to show links between hippocampal growth and sleep problems in infants who are later diagnosed with autism.

Other studies have found that “overgrowth” in different brain structures among infants who go on to develop those larger structures has been associated, at different stages of development, with social, language and behavioral aspects of autism.

While the UW sleep study found a pattern of larger hippocampal volume, and more frequent sleep problems, among infants who went on to be diagnosed with autism, what isn’t yet known is whether there is a causal relationship. Studying a broader range of sleep patterns in this population or of the hippocampus in particular may help determine why sleep difficulties are so prevalent and how they impact early development in children with autism spectrum disorder.

“Our findings are just the beginning — they place a spotlight on a certain period of development and a particular brain structure but leave many open questions to be explored in future research,” MacDuffie said.

A focus on early assessment and diagnosis prompted the UW Autism Center to establish an infant clinic in 2017. The clinic provides evaluations for infants and toddlers, along with psychologists and behavior analysts to create a treatment plan with clinic- and home-based activities — just as would happen with older children.

The UW Autism Center has evaluated sleep issues as part of both long-term research studies and in the clinical setting, as part of behavioral intervention.

“If kids aren’t sleeping, parents aren’t sleeping, and that means sleep problems are an important focus for research and treatment,” said MacDuffie.

The authors note that while parents reported more sleep difficulties among infants who developed autism compared to those who did not, the differences were very subtle and only observed when looking at group averages across hundreds of infants. Sleep patterns in the first years of life change rapidly as infants transition from sleeping around the clock to a more adult-like sleep/wake cycle. Until further research is completed, Estes said, it is not possible to interpret challenges with sleep as an early sign of increased risk for autism.

The study was funded by the National Institutes of Health, Autism Speaks and the Simons Foundation. Dr. Stephen Dager, professor of radiology at the UW School of Medicine and Tanya St. John, research scientist at the UW Autism Center, were co-authors. Additional co-authors, all at IBIS Network institutions, were Mark Shen, Martin Styner, Sun Hyung Kim and Dr. Joseph Piven at the University of North Carolina at Chapel Hill; Sarah Paterson, now at the James S. McDonnell Foundation; Juhi Pandey at the Children’s Hospital of Philadelphia; Jed Elison and Jason Wolff at the University of Minnesota; Meghan Swanson at the University of Texas at Dallas; Kelly Botteron at Washington University in St. Louis; and Dr. Lonnie Zwaigenbaum at the University of Alberta.

See the full article here .

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From Rutgers University: “Autism Diagnosis Test Needs Improvement, Rutgers Researchers Say”

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From Rutgers University

January 27, 2020
Megan Schumann
848-445-1907
MEGAN.SCHUMANN@rutgers.edu

Study finds inconsistencies in a broadly used autism test.

Rutgers researchers have found that a test widely used to diagnose whether children have autism is less reliable than previously assumed.

Rutgers researchers have found that a test widely used to diagnose whether children have autism is less reliable than previously assumed.

The study is published in the journal Neural Computation.

The standardized test, known as the Autism Diagnostic Observation Schedule (ADOS), assesses communication skills, social interaction and play for children who may have autism or other developmental disorders.

The researchers digitized the test by attaching wearable technology, like an Apple Watch, to two clinicians and 52 children who came in four times and took two different versions of the test.

When researchers looked at the scores of the entire cohort, they found they did not distribute normally – which could mean a chance of false positives inflating the prevalence of autism, among other implications.

The results showed that switching clinicians may change a child’s scores and consequently influences the diagnosis. The researchers found similar results when they analyzed open-access data of 1,324 people ages 5 to 65, said Elizabeth Torres, associate professor of psychology in Rutgers’ School of Arts and Sciences, and director of The New Jersey Autism Center of Excellence.

“The ADOS test informs and steers much of the science of autism, and it has done great work thus far,” said Torres, whose expertise has brought emerging computer science technology to autism. “However, social interactions are much too complex and fast to be captured by the naked eye, particularly when the grader is biased to look for specific signs and to expect specific behaviors.”

The researchers suggest combining clinical observations with data from wearable biosensors, such as smartwatches, smartphones and other off-the-shelf technology.

By doing so, they argue, researchers may make data collection less invasive, lower the rate of false positives by using empirically derived statistics rather than assumed models, shorten the time to diagnosis, and make diagnoses more reliable, and more objective for all clinicians.

Torres said autism researchers should aim for tests that capture the accelerated rate of change of neurodevelopment to help develop treatments that slow down the aging of the nervous system.

“Autism affects one out of 34 children in New Jersey,” she said. “Reliance on observational tests that do not tackle the neurological conditions of the child from an early age could be dangerous. Clinical tests score a child based on expected aspects of behaviors. These data are useful, but subtle, spontaneous aspects of natural behaviors, which are more variable and less predictable, remain hidden. These hidden aspects of behavior may hold important keys for personalized treatments, like protecting nerve cells against damage, or impairment, which could delay or altogether stop progression.”

The study was co-authored by Richa Rai, a graduate student in psychology at Rutgers University, Sejal Mistry, a former Rutgers Biomathematics student now at the University of Utah Medical School, and Brenda Gupta from Montclair State University.

See the full article here .

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From University of Pennsylvania: Women in STEM-“A Spectrum of Possibilities” Caitlin Clements

From University of Pennsylvania

January 16, 2020
Karen Brooks

A doctoral candidate in psychology, puts autism-related lore to the test.

Caitlin Clements, a doctoral candidate in psychology

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“Is this my fault?”

It’s the question Caitlin Clements has heard more than any other since she began studying autism a decade ago. Currently completing a year-long clinical internship at SUNY Upstate Medical University, the Ph.D. candidate in psychology counsels families with children who have developmental or psychological disorders.

“When I see parents going through the early diagnostic process for autism, so often, they ask me why this happened and what they did wrong,” Clements says. “While we know they are not to blame, there is so much we don’t know. I wish I could give them more concrete answers—that’s what motivates me to keep working.”

Before beginning her undergraduate degree at Yale, Clements had only known one person with autism: a family friend’s son. The child’s behavior had seemed different for years, and she jumped at the opportunity to learn more about it by working in an autism-focused lab. Her commitment to exploring the condition hasn’t wavered since.

Supervised by faculty advisor Robert Schultz—scientific director of the Center for Autism Research, a collaboration between Penn and Children’s Hospital of Philadelphia—Clements has studied the relationship between IQ and autism across patients of varying ages and abilities. Recently, she has examined whether common cognitive tests like the Differential Ability Scales-II (DAS-II) test, which were developed based on neurotypical children, accurately assess the intellectual capacities of autistic children.

“When using the DAS-II with autistic kids, clinicians sometimes place a greater emphasis on nonverbal scores, thinking that maybe their verbal scores are not as meaningful because they often have lower language levels than expected for their age,” Clements says. “This seems like good intuition, but as clinicians, we have made these judgments without having real data to support them.”

Clements accessed data from the 2,000 neurotypical children used in the development of the DAS-II as well as from a study applying the test to 1,200 children with autism. In comparing their verbal and nonverbal subtest scores, she discovered that the “rule of thumb” that a child with autism has stronger nonverbal than verbal skills is, in fact, a bit of medical lore.

“It turns out that both verbal and nonverbal subtests work really well in autistic populations and capture the same things as in the normative sample. A higher nonverbal than verbal score barely predicts autism better than chance,” she says.

The study revealed another unexpected finding: Performance patterns on the test’s spatial components differed significantly between children with and without autism. Those with the condition excelled at pattern construction—an exercise in which they copied a pattern using colored blocks—but struggled with recall of design, an exercise that involved remembering and reproducing abstract designs.

“We are in the process of analyzing what these results mean and looking at whether there is a bias, and if that bias is an overprediction or underprediction of these kids’ abilities,” she explains.

Although autism is her primary focus, Clements also maintains an interest in depression—a condition she studied in 2018 as a Fulbright Scholar at the Karolinska Institutet in Sweden. Working under psychiatrist Mikael Landén, she aimed to identify genetic causes for severe depression.

“Like with autism, there are a lot of individual differences in clinical presentation among people with depression. A general label of ‘depression’ doesn’t capture these important differences, just like a general label of ‘autism’ doesn’t, either,” she says. “People with severe symptoms could have very different underlying biology than those with milder symptoms.”

To ensure a sample of individuals with truly severe depression, Clements, Landén, and their team selected those who had received electroconvulsive therapy (ECT), a “last-ditch” treatment used only with patients who had not responded to any other therapies. They then performed a genome-wide association, an approach that involves scanning markers across many complete sets of DNA to pinpoint genetic variations associated with a particular disease—and detected a potential culprit on a region of one particular chromosome.

“The landscape for the genetics of depression is no longer as bleak as it once was,” she notes. “What’s exciting about this paper’s approach is that a giant international consortium is now trying to do what we’ve done in Sweden all over the world, building up much larger samples of individuals who have received ECT to gain more traction in analyzing a more homogeneous subset. Identifying more severely affected subsets is a good direction for researchers studying autism to go, as well.”

Clements defended her dissertation, “Phenotypic and genotypic heterogeneity of autism spectrum disorders,” last spring and will graduate when she finishes her internship in August. She is applying for postdoc positions in which she can continue to study the biological basis of autism and plans to pursue a career in academic research.

“I like to see patients because it keeps me in touch with clinical issues,” she says, “but gaining knowledge about why a child has autism is cathartic for families, and my priority is to do research that helps answer these questions.”

See the full article here .

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