- Rare variants and the genetics of autism
- Progress in understanding the genetic basis of mental health
- New SPARK study identifies a novel group of inherited genes of moderate effect and shows their links to other behavioral conditions
- What do we mean by ‘autism risk genes’?
- New research results from the Australian Autism Biobank study
A report about this workshop will be posted soon.
On September 23, 2022, SFARI will co-host a virtual workshop to discuss the causal mechanisms underlying neuropsychiatric conditions, from genes to cells to circuits to behavior. The event is organized in conjunction with the New York Genome Center, Columbia University, the University of California, San Francisco, the University of Oxford and the University of California, Los Angeles.
Tremendous progress has been made in finding genetic variants that play a causal role in neuropsychiatric disorders; however, understanding the etiology of these disorders continues to present an immense challenge. Bringing together panelists with a wide range of expertise, this workshop will explore the inherent conceptual and epistemological limitations of developing causal models of brain function in health and disease. Participants will explore the nature of causality against our limited understanding of brain function across levels of organizational complexity, from genes to cells to circuits to behavior. Expected outcomes are a critical assessment of the current state of the field, a prioritized list of recommendations for future research, and the identification of areas in need of collaboration across specialties.
The proceedings will be summarized in a white paper.
The workshop agenda can be found here.
Thomas Lehner is Scientific Director of Neuropsychiatric Disease Genomics at the New York Genome Center (NYGC). Reporting to NYGC Evnin Family Scientific Director and Chief Executive Officer Tom Maniatis, Lehner spearheads the overarching scientific strategy for neuropsychiatric disease genomics research at the Center, which includes expansion of large-scale whole genome autism research into other neuropsychiatric disease areas, including schizophrenia and bipolar disorder. He works closely with the NYGC’s Neuropsychiatric Scientific Working Group and is responsible for coordinating collaborative research with academic and industrial partners, as well as leading efforts to secure external research funding from grants, contracts, industry and philanthropic sources to support critical neuropsychiatric research projects.
Lehner joined the NYGC following a distinguished 15-year tenure at the National Institute of Mental Health (NIMH), a division of the National Institutes of Health (NIH), where he most recently served as Director, Office of Genomics Research Coordination and Senior Genomics Advisor, Intramural Research Program. Lehner was instrumental in the conception and development of the NIMH’s comprehensive neuropsychiatric genomics program. Prior to joining NIMH in 2004, Lehner held academic research positions at Columbia University and The Rockefeller University; in industry at Millennium Pharmaceuticals and as founder of a molecular medicine startup; and worked in government for New York State.
Lehner holds a Ph.D. in human biology and genetics from the University of Vienna and conducted postdoctoral studies in psychiatry at Columbia University, where he also obtained his master of public health degree.
Kelsey Martin joined the Simons Foundation in September 2021 as director of SFARI and the Simons Foundation Neuroscience Collaborations. She previously served as dean of the David Geffen School of Medicine at the University of California, Los Angeles (UCLA), chair of the UCLA Department of Biological Chemistry and professor in the UCLA Department of Biological Chemistry and the Department of Psychiatry and Biobehavioral Sciences. Her research addresses the cellular and molecular biology of long-term synaptic plasticity and memory, with a focus on experience-dependent regulation of gene expression in neurons. Her lab has discovered signaling molecules that travel from stimulated synapses to the nucleus to impact transcription. They have also elucidated functions for the translation of synaptically localized mRNAs during synapse formation and plasticity. As dean at UCLA, Martin established programs in precision health and computational medicine and developed a series of interdepartmental research initiatives spanning basic through clinical research.
Martin earned her bachelor’s degree at Harvard University, her M.D. and Ph.D. in molecular biophysics and biochemistry at Yale University and completed her postdoctoral training with Eric Kandel at Columbia University. She is a member of the National Academy of Medicine and a fellow of the American Academy of Arts and Sciences. Her experience as a Peace Corps volunteer in maternal and child health in Zaire (now the Democratic Republic of Congo) inspired her to pursue a career in medicine and science.
Stephan Sanders trained as a pediatric physician in the United Kingdom before pursuing a career in genomics and bioinformatics research as a graduate student and postdoctoral researcher in the laboratory of Matthew State at Yale University. In 2014, he moved to the University of California, San Francisco to start his own lab in the Department of Psychiatry.
His research has helped characterize the role of rare and de novo genetic variants in the etiology of neurodevelopmental conditions, including identifying many genes that contribute to autism risk. He has used these gene lists to provide insights into the cell types and biological processes that underlie autism and to investigate genotype-phenotype relationships, including autism sex bias and variants in the sodium channel gene SCN2A. Recently, Sanders has played a leading role in using whole-genome sequencing data to extend rare variant methods to noncoding variants in autism and other neurodevelopmental and psychiatric disorders.