Leveraging long-term health data and exome sequencing for autism-related gene discovery

  • Autism Research
Speaker David Ledbetter, Ph.D., FACMG
Date & Time


Gerald D. Fischbach Auditorium
160 5th Avenue
New York, NY 10010 United States

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.

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On 11 October 2017, David Ledbetter discussed the progress made by Geisinger Health System’s Precision Health Center – in partnership with Regeneron Genetics Center – towards advancing research and innovation by leveraging electronic health data and exome sequence data.  Such an approach has already led to the successful identification of new drug targets and improved prevalence estimates of common Mendelian conditions, including familial hypercholesterolemia, BRCA-related cancers and Lynch syndrome, as well as autism spectrum and neuropsychiatric copy number variant disorders.

His talk is part of the Simons Foundation Autism Research lecture series.

About the Lecture

Healthcare providers, government agencies and research groups are using data drawn from decades of electronic medical records to improve patient care and to identify the genetic mutations responsible for conditions such as autism spectrum disorders. Called the Learning Health System model, the approach is helping transform the health care system into one that can more rapidly learn, adapt and improve.

In this lecture, David Ledbetter described Geisinger Health System’s Precision Health Center. The center makes available more than 20 years’ worth of electronic health data for research and innovation. In partnership with Regeneron Genetics Center, Geisinger now has exome sequence data for more than 92,000 patient-participants, with an ultimate goal of 250,000.

Those data have already led to the successful identification of new drug targets, improved prevalence estimates of the most common Mendelian disorders (including familial hypercholesterolemia, BRCA-related cancers and Lynch syndrome) and the identification of autism spectrum and neuropsychiatric copy number variant disorders in 0.8 percent of the dataset’s adult participants. These results are already having a positive impact on individual participants, their family members and their primary care physicians.

About the Speaker

David Ledbetter is a human geneticist with an American Board of Medical Genetics and Genomics certification in clinical cytogenetics. Ledbetter’s earlier work contributed to the discovery of the genetic causes of Prader-Willi and Miller-Dieker syndromes. Since then, his research has focused on developing and applying technologies to better understand neurodevelopmental conditions such as autism spectrum disorders. He has held leadership positions at the National Institutes of Health, the University of Chicago, Emory University, and is currently the Executive Vice President and Chief Scientific Officer of Geisinger Health System.

Past Lectures

How emotions shape our memories

Kelsey C. Martin, M.D., Ph.D.Executive Vice President, Autism and Neuroscience
Leonard Mlodinow, Ph.D.Physicist and Author

Have you ever contemplated the difference between a feeling, a thought and a memory? And how do all these things fit together in making us who we are?

Leonard Mlodinow is a theoretical physicist and best-selling author. In his latest book, “Emotional: How Feelings Shape Our Thinking,” he unpacks the role emotions play in our thinking and mental well-being.

Kelsey Martin, director of the Simons Foundation Autism Research Initiative (SFARI) and the foundation’s neuroscience collaborations, has spent much of her career as a neuroscientist seeking to understand better how experiences change brain connectivity to store long-term memories.

What do we mean by ‘autism risk genes’?

David Ledbetter, Ph.D.
Chief Clinical Officer, Dascena

Joseph Buxbaum, Ph.D.
Director, Seaver Autism Center
Professor, Psychiatry, Neuroscience, Genetics and Genomic Sciences
Vice Chair for Research and Vice Chair for Mentoring, Psychiatry, Icahn School of Medicine at Mount Sinai

Heather Mefford, M.D., Ph.D.
Full Member, St. Jude Children’s Research Hospital

David Ledbetter and Joseph Buxbaum discussed whether there are genes for which mutations confer risk specific to autism or whether these genes are really conferring general risk of disrupted brain development. The discussion was moderated by Heather Mefford.

Small molecules, genes and antisense oligonucleotides: Industry perspectives on treatment development for ASD

Federico Bolognani, M.D., Ph.D.
Vice President, Head of Clinical Science, Axial Therapeutics

Stuart Cobb, Ph.D.
Chief Scientific Officer, Neurogene; Research Fellow, University of Edinburgh

Yael Weiss, M.D., Ph.D.
Vice President, Business Development, Ultragenyx

Randy Carpenter, M.D.
Chief Medical Officer, Rett Syndrome Research Trust; Co-Founder, Allos Pharma

Federico Bolognani, Stuart Cobb, and Yael Weiss joined a panel to discuss new industry developments on the use of small molecules, gene therapy and antisense oligonucleotides as treatment approaches for autism spectrum disorders (ASD). The panel discussion was moderated by Randall Carpenter.

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