SFARI

One brain, many genomes: Somatic mutation and genomic variability in human cerebral cortex
2016-04-27 17:00 - 18:15 UTC | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 27 April 2016, Christopher Walsh reviewed recent work on ‘somatic mutations’ — de novo mutations that are present in some brain cells but not in all cells of the body — in several neurological conditions associated with intellectual disability and seizures.
His talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
Christopher Walsh and his team are interested in genetic mechanisms of cerebral cortical development and abnormalities of cortical development resulting in intellectual disability, autism and epilepsy. The lab pioneered the analysis of recessive causes of autism by studying children with autism whose parents share ancestry.
In this lecture, Walsh reviewed recent work on ‘somatic mutations’ — de novo mutations that are present in some brain cells but not in all cells of the body — in several neurological conditions associated with intellectual disability and seizures. His talk also covered the extent to which somatic mutations are an inevitable part of normal brain development, such that the neurons in the human brain are a tapestry of cells with distinct genomes. The relevance of somatic mutations to autism was also discussed.
About the Speaker
Christopher A. Walsh is Chief of the Division of Genetics and Genomics at Boston Children’s Hospital, Bullard Professor of Pediatrics and Neurology at Harvard Medical School, and an investigator of the Howard Hughes Medical Institute. He completed the M.D. and Ph.D. degrees at the University of Chicago, trained in neurology at Massachusetts General Hospital, and has been at Children’s Hospital since 2006.

Sleep in autism spectrum disorders: A window to etiology, diagnosis and treatment
2016-09-07 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 7 September 2016, Ruth O’Hara discussed the field’s current understanding of sleep in autism spectrum disorder.
Her talk was part of the Simons Foundation Autism: Emerging Concepts lecture series.
About the Lecture
Understanding sleep physiology in autism spectrum disorder (ASD) not only provides a window to the underlying etiology, it can also help characterize sub-phenotypes and offer a potent treatment approach for improving neuropsychiatric and neurocognitive function in ASD through improved sleep.
Ruth O’Hara discussed the field’s current understanding of sleep in ASD, including: a) describing how sleep physiology in ASD differs from sleep physiology in typically developing children; b) discussing the different potential ASD phenotypes suggested by her work; and c) describing the different sleep architecture, sleep disturbances, and sleep disorders that are more prevalent in ASD than in typically developing children and which can serve as treatment targets that may in turn improve the core symptoms of ASD.
About the speaker:
Ruth O’Hara is associate professor and associate chair of the Department of Psychiatry at Stanford University. Her research integrates measures of sleep physiology, the brain and behavior across the lifespan. Over the years she has obtained substantial National Institutes of Health (NIH) funding to support her work. O’Hara received a SFARI grant to examine sleep physiology and neurodevelopmental processes in autism spectrum disorder. She was a member of the most recent Diagnostic and Statistical Manual of Mental Disorders (DSM) sleep-wake disorders work group.

Tuberous Sclerosis: Shedding light on the neural circuitry of autism
2016-10-05 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 5 October 2016, Mustafa Sahin presented an update on translational research in Tuberous Sclerosis Complex. His talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
In this lecture, Mustafa Sahin presented the rationale for investigating Tuberous Sclerosis Complex (TSC) as a way to understand the cellular and circuitry alterations underlying autism spectrum disorder. Using a combination of cell culture, mouse behavior and human electroencephalography (EEG) and magnetic resonance imaging (MRI) experiments, Sahin and colleagues have demonstrated abnormalities in neuronal connectivity and neuron-glia interactions in TSC. Inhibitors of mammalian target of rapamycin (mTOR) proteins are effective in mouse models of TSC and are being tested in clinical trials now. A better understanding of TSC can also provide insights for related neurodevelopmental disorders in which similar cellular and circuit abnormalities can be detected.
About the Speaker
Mustafa Sahin is a developmental neurobiologist and a pediatric neurologist. He received his B.S. degree from Brown University, his M.D. and Ph.D. from Yale School of Medicine. He completed a pediatrics residency at Children’s Hospital of Philadelphia and a child neurology residency at Boston Children’s Hospital. He is currently the director of the Translational Neuroscience Center at Boston Children’s Hospital and a professor of neurology at Harvard Medical School. He directs two national consortia to study biomarkers and comparative pathobiology of TSC and related neurodevelopmental disorders.

How immune cells help wire the brain: Implications for autism and psychiatric illness
2016-11-02 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 2 November 2016, Beth Stevens discussed recent work that implicates brain immune cells, called microglia, in sculpting of synaptic connections during development and their relevance to autism, schizophrenia and other brain disorders.
Her talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
Recent research has revealed a key role for microglia and a group of immune-related molecules, called complement, in normal developmental synaptic pruning, a process required to establish precise brain wiring. Emerging evidence from Beth Stevens’ lab and others suggest aberrant regulation of this pruning pathway may contribute to synaptic and cognitive dysfunction in a host of brain disorders, including schizophrenia. Studies also suggest that a person’s risk of schizophrenia is increased if he or she inherits specific variants in complement C4, which plays a well-known role in the immune system but also helps sculpt developing synapses in the mouse visual system.
Together these findings may help explain known features of schizophrenia, including reduced numbers of synapses in key cortical regions and an adolescent age of onset that corresponds with developmentally timed waves of synaptic pruning in these regions. Stevens discussed this and ongoing work to understand the mechanisms by which complement and microglia prune specific synapses in the brain. A deeper understanding of how these immune mechanisms mediate synaptic pruning may provide novel insight into how to protect synapses in autism and other brain disorders.
About the speaker
Beth Stevens is an assistant professor of neurology at Harvard Medical School and the F.M. Kirby Neurobiology Center at Boston Children’s Hospital and a member of the Broad Institute. Her laboratory seeks to understand how neuron-glia communication facilitates the formation, elimination and plasticity of synapses during both healthy development and disease states. Stevens is a recipient of several young investigator awards, including the Ellison Medical Foundation New Scholar in Aging; John Merck Scholar Program; Presidential Early Career Award for Scientists and Engineers; and a MacArthur Fellowship.

SFARI Society for Neuroscience 2016 Social
2016-11-14 18:30 - 20:30 | Hilton San Diego Bayfront Indigo 204, One Park Blvd, San Diego, CA, 92101, United States
All Society for Neuroscience (SfN) attendees are welcome to join SFARI Investigators and scientific staff for an evening of socializing and networking, including a brief information session on SFARI funding opportunities and scientific resources for the autism research community.
We welcome newcomers to autism research as well as those already working to uncover the science of autism spectrum disorders.
Simons Foundation staff will be available to answer questions about the work SFARI currently funds, future opportunities for funding and SFARI resources.

A number of SFARI Investigators will be presenting their research at Neuroscience 2016.
To find out more, click here.

SFARI + SfN Social
Date: Monday, 14 November 2016
Time: 6:30 p.m. – 8:30 p.m.
Hilton San Diego Bayfront
Indigo 204
Questions? Contact communications@simonsfoundation.org.
We look forward to seeing you there.

Potholes and progress on the road to translational treatments in autism spectrum disorder
2017-01-25 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 25 January 2017, Jeremy Veenstra-VanderWeele outlined critical challenges to translating genomic, cellular, and animal model research into new treatments for autism spectrum disorder.
His talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
Emerging genomic and neuroscience findings have delivered hypotheses that are now being tested in autism spectrum disorder (ASD) and related genetic syndromes. Unfortunately, these clinical trials have not yet yielded positive results, suggesting a need to step back and evaluate the science of testing new treatments for neurodevelopmental disorders.
In this lecture, Jeremy Veenstra-VanderWeele outlined critical challenges, both conceptual and practical, to translating genomic, cellular, and animal model research into new treatments for ASD. He discussed the limitations to conclusions drawn from work in the laboratory as they are extrapolated to the clinic. He also described common pitfalls in clinical trials, including mismatches between hypotheses and study populations, substantial “placebo” effects, and subjective outcome measures. Framing these challenges in the context of past successes in ASD treatment research, he suggested guideposts as we work toward neurobiologically based treatments for ASD.
About the speaker:
Jeremy Veenstra-VanderWeele is the Mortimer D. Sackler, M.D., Associate Professor in Psychiatry at Columbia University Medical Center and the New York State Psychiatric Institute. He completed his M.D. and residency training at the University of Chicago, postdoctoral training in neuroscience at Vanderbilt University, and moved to Columbia in 2014. As a child psychiatrist and developmental neuroscientist, his primary motivation is to deliver new treatments to children with autism spectrum disorder and related neurodevelopmental disorders.

Genomic insights into human cortical development and neurodevelopmental disease
2017-02-01 17:00 - 18:00 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Exploiting genetics to identify environmental risks for autism
2017-02-22 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 22 February 2017, Mark Zylka described how candidate environmental risk factors for autism can be identified rationally, by pinpointing chemicals that interfere with the same molecular pathways that are affected in individuals with autism.
His talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
Our inability to identify environmental threats to the brain early — before they cause disease — represents one of the major challenges of our time. This challenge is particularly relevant to autism, which affects 1 in 68 individuals. Heritability studies indicate that environmental factors contribute to autism risk.
In this lecture, Mark Zylka described how candidate environmental risk factors for autism can be identified rationally, by pinpointing chemicals that interfere with the same molecular pathways that are affected in individuals with autism. His research focuses on identifying environmental-use chemicals that target autism-linked molecular pathways, using environmental sampling data to assess the exposure threat to people, and validating risk potential in animal models.
About the speaker:
Mark Zylka is Director of the Neuroscience Center at the University of North Carolina at Chapel Hill. He received his B.S. in biochemistry from Virginia Polytechnic Institute and State University, and his Ph.D. in neurobiology from Harvard University. While at Harvard, he identified several of the core circadian-clock genes and determined how these genes contribute to circadian rhythms in mammals. As a postdoctoral fellow at the California Institute of Technology, he identified a large family of receptors that regulate pain and itch. Zylka’s lab focuses on pain research and studying genetic and environmental risks for autism.

What can genetics tell us about autism spectrum disorder?
2017-03-22 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States
On 22 March 2017, Stephan Sanders presented an update on the current state of genetics research in autism, highlighting some of the key findings that remain to be discovered, and discussing how these findings could ultimately benefit individuals with autism and their families.
His talk was part of the Simons Foundation Autism Research lecture series.
About the Lecture
It has been known that autism spectrum disorder is primarily caused by genetic factors for several decades. The past 10 years have seen great progress in finding some of the genes responsible and in building a map of what other types of genetic variants may contribute. These findings have been used both to provide insight into the biology of autism and, in the clinic, to identify individuals with specific genetic variants.
In this lecture, Stephan Sanders presented an update on the current state of genetics research in autism, highlight some of the key findings that remain to be discovered, and discussing how these findings could ultimately benefit individuals with autism and their families.
About the speaker:
Stephan Sanders trained as a pediatric physician in the United Kingdom before pursuing a research career in genomics and bioinformatics. His work has helped characterize the role of de novo mutations in the etiology of autism and identified multiple autism risk loci, including duplications of the 7q11.23 Williams syndrome region (Sanders et al., Neuron, 2011) and mutations in the sodium channel gene SCN2A (Sanders et al., Nature, 2012). His work on the integration of copy number variation and exome data across multiple autism cohorts recently identified 71 autism risk loci (Sanders et al., Neuron, 2015). In addition, he worked as part of a group that integrated spatiotemporal gene expression data from the human brain with these autism-associated genes (Willsey et al., Cell, 2013). This approach has implicated deep-layer glutamatergic neurons in the frontal cortex during mid-fetal development in the causation of autism.
His lab has three main research aims: 1) Understanding the genetic basis of childhood neurodevelopmental conditions, in particular autism; 2) Understanding how these genetic factors lead to the conditions; and 3) Understanding the mechanism that leads to the male bias in autism diagnosis, in particular through identifying the biological basis of the female protective effect.

Leveraging long-term health data and exome sequencing for autism-related gene discovery
2017-10-11 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Understanding autism and other neurodevelopmental disorders: From the embryo to brain organoids
2017-11-01 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

SFARI Society for Neuroscience 2017 Social
2017-11-13 18:30 - 20:30 | Marriott Marquis Washington, D.C. Liberty Salons I, J, K, 901 Massachusetts Ave NW, Washington, D.C., 20001, United States
All Society for Neuroscience (SfN) attendees are welcome to join SFARI Investigators and scientific staff for an evening of socializing and networking, including a brief information session on SFARI funding opportunities and scientific resources for the autism research community.
We welcome newcomers to autism research as well as those already working to uncover the science of autism spectrum disorders.
Simons Foundation staff will be available to answer questions about the work SFARI currently funds, future opportunities for funding and SFARI resources.

A number of SFARI Investigators will be presenting their research at Neuroscience 2016.To find out more, click here.

SFARI + SfN Social
Date: Monday, 13 November 2017
Time: 6:30 p.m. – 8:30 p.m.
Marriott Marquis Washington, D.C.
Liberty Salons I, J, K
Questions? Contact communications@simonsfoundation.org.
We look forward to seeing you there.

Autism genetics: Searching for coherence
2017-11-28 17:00 - 18:00 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Arousal, emotion regulation and challenging behaviors: Insights from the Autism Inpatient Collection
2018-01-24 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

On the road to precision health: Brain-based biomarkers in autism spectrum disorder
2018-02-07 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Autism genetics: Where have we been and where are we going?
2018-04-10 08:35 - 08:50 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Thinking differently about neurodevelopmental disorders and autism: Lumping vs. splitting
2018-09-26 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

SFARI Society for Neuroscience 2018 Social
2018-11-05 18:30 - 20:30 | Hilton San Diego Bayfront Indigo 204, One Park Blvd, San Diego, CA, 92101, United States

Rethinking autism and animal models: A systems perspective
2018-11-28 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

The predictive impairment hypothesis in autism: An empirical assessment
2018-12-12 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

The genetic influences on autism spectrum disorder risk
2019-01-30 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Mapping human cerebral cortex: Structure, function, connectivity, development and evolution
2019-04-03 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Altered somatosensory processing in autism spectrum disorders: Mechanisms and emerging therapeutic opportunities
2019-04-24 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

SFARI Viewer - an online platform to visualize and analyze SFARI genomic data
2019-06-14 12:00 - 13:00

SFARI Society for Neuroscience 2019 Social
2019-10-21 18:30 - 20:30 | Marriott Marquis Chicago, 2121 S Prairie Ave, Chicago, 60616, United States

Neuroimmune interactions shaping social behavior in mouse models for neurodevelopmental disorders
2019-10-30 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

From genotype to phenotype in autism: The role of adaptive physiology in flies and mice
2019-11-20 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Autism, autisms, or neurodevelopmental disorders?
2020-01-29 17:00 - 18:15 | Gerald D. Fischbach Auditorium, 160 5th Avenue, New York, NY, 10010, United States

Progress in understanding the genetic basis of mental health
2020-05-06 10:00 - 11:15 | Webinar

From parent advocate to nonprofit chief science officer, to biotherapeutic company cofounder — A personal journey through drug development for Angelman syndrome
2020-05-29 13:00 - 14:10 | Webinar
