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CiMUS Seminar

Ultra-rare genetic variants and risk for pediatric psychiatric disorders

Joseph D. Buxbaum, PhD and Dorothy Grice, MD

Psychiatrists. Icahn School of Medicine at Mount Sinai

10 May 2024 13:00–14:00

Theatre room, CiMUS


This presentation examines the discovery and role of ultra-rare genetic variants in pediatric psychiatric disorders. Using recent genomic advancements, it delves into their contribution to etiology and pathogenesis; and discusses implications for diagnosis, treatment, and prevention. Attendees will gain insights into the genetic landscape in pediatric psychiatry, informing personalized interventions for improved clinical outcomes.

The presentation will be jointly conducted with Dr. Dorothy E. Grice.


Dr. Joseph D. Buxbaum is a distinguished researcher known for his contributions to the field of neuropsychiatry. He co-founded the Autism Sequencing Consortium (ASC), leading groundbreaking research on autism genetics. He leads the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. His team investigates human psychiatric diseases using genetics, genomics, cell and molecular biology, and animal models. 

Dr. Dorothy E. Grice leads the Division of Tics, OCD, and Related Disorders. She utilizes large-scale genomic approaches to investigate genetic and biological risk factors for OCD. Her research aims to advance our understanding of OCD and related disorders and facilitate the development of more targeted and innovative treatment modalities for these conditions.

Host PI: Ángel Carracedo. Genomics and Bioinformatics group, CiMUS

Attendance certificates will be provided upon request to cimus.xestion [at] (cimus[dot]xestion[at]usc[dot]es). Please do not forget to enter your name and surname on the printout. If you fail to do so, we will not be responsible for changing anyone's record.