Web Desc
Neuropsychiatric and Neurodevelopmental Disorders: Harnessing Rare Variants - VIRTUAL CONTENT AVAILABLE ON DEMAND
Organizer(s): Jennifer G. Mulle, Audrey Thurm, Christa L. Martin and Carrie E. Bearden
Date: February 11 - 11, 2021
Location: Virtual at your computer. Recorded presentation content is available On Demand.
Sponsored by Ultragenyx Pharmaceutical Inc.
For important information on the coronavirus, please click here
Summary of Meeting:
This is an unprecedented time in psychiatric genetics. There are now hundreds of rare genetic variants that are strongly associated with neuropsychiatric traits and psychiatric diseases. Many individual teams are making progress studying a given gene or genomic interval, and the time is right for knowledge transfer across teams. This conference is driven by three emerging concepts. First, the discovery of rare variants with large effects for neuropsychiatric disorders provides a new avenue for understanding the underlying mechanisms of more common disorders. Second, these rare variants are often associated with multiple neurodevelopmental or neuropsychiatric disorders, suggesting that there are common underlying biological pathways that confer susceptibility to disease; this finding simultaneously suggests that genetic and epigenetic modifiers play a key role in determining the phenotype of specific individuals. Third, large scale collaborative efforts and harmonized frameworks for data collection are starting to enable more fine-grained, quantitative and even longitudinal phenotyping of probands and relatives, allowing us to move beyond the relatively gross characterization of categorical Diagnostic and Statistical Manual of Mental Disorders (DSM) diagnoses. These new findings underscore the need for interaction between geneticists, neurobiologists and clinical scientists, and this meeting sets the stage for such cross-cutting collaborations.
Keystone Symposia thanks our Sponsor(s) for generously supporting this meeting:
Ultragenyx Pharmaceutical Inc.
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Thursday, February 11 | 8:00AM - 8:10AM
Welcoming Remarks (8am Denver/Mountain Time Start)

Speaker 1 of 1
* Jennifer G. Mulle, Emory University School of Medicine, USA

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 1 of 8
* Audrey Thurm, NIMH, National Institutes of Health, USA

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 2 of 8
* Christa L. Martin, Geisinger Health, USA

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 3 of 8
Elise Robinson, Harvard T.H. Chan School of Public Health and Broad Institute, USA
Genetic Clues to Autism Heterogeneity

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 4 of 8
Jacob Vorstman, University of Toronto, Canada
Genetics of Neuropsychiatric Disorders: Lessons Learned and Clinical Implications

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 5 of 8
Wendy K. Chung, Columbia University, USA
Complexities of Genetic Conditions Associated with Autism Spectrum Disorders

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 6 of 8
John N. Constantino, Washington University School of Medicine, USA
Reconciling Rare Variants, Inheritance, and Diagnosis in Autism: A 'Grand Unified Theory' to Guide Biomarker Discovery and Higher-Impact Intervention

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 7 of 8
Stephan Sanders, University of California, San Francisco, USA
Heterogeneity of Genotype-Phenotype Relationships in Neurodevelopmental Delay

Thursday, February 11 | 8:10AM - 11:10AM
Neuropsychiatric and Neurodevelopmental Disorders (8:10am De
nver/Mountain Time Start)


Speaker 8 of 8
Mustafa Sahin, Boston Children's Hospital, USA
Mechanism-based Biomarker and Treatment Trials in the Neurology of TSC

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 1 of 10
* Carrie E. Bearden, University of California Los Angeles, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 2 of 10
* Jennifer G. Mulle, Emory University School of Medicine, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 3 of 10
John N. Constantino, Washington University School of Medicine, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 4 of 10
Elise Robinson, Harvard T.H. Chan School of Public Health and Broad Institute, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 5 of 10
Stephan Sanders, University of California, San Francisco, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 6 of 10
Jacob Vorstman, University of Toronto, Canada

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 7 of 10
Wendy K. Chung, Columbia University, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 8 of 10
Mustafa Sahin, Boston Children's Hospital, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 9 of 10
Ricardo E. Dolmetsch, uniQure, USA

Thursday, February 11 | 11:20AM - 12:05PM
Panel Discussion (11:20am Denver/Mountain Time Start)

Speaker 10 of 10
Bina Shah, Commission on Neurodevelopmental CNVs, USA

Thursday, February 11 | 12:05PM - 12:10PM
Closing Remarks (12:05pm Denver/Mountain Time Start)

Speaker 1 of 1
* Carrie E. Bearden, University of California Los Angeles, USA

Thursday, February 11 | 12:10PM - 1:30PM
Networking Lounge (12:10pm Denver/Mountain Time Start)


*Session Chair.