2nd MEF2C Family Research Conference, Joseph B. Martin Conference Center, January 2026

Agenda

Topic: Clinical Features Over the Life Course, Wendy Chung, M.D., Ph.D., Principal Investigator of Simons Searchlight, Chief, Department of Pediatrics, Boston Children’s Hospital,Mary Ellen Avery Professor of Pediatrics, Harvard Medical School

Topic: Natural History Studies and Clinical Trial Design, Siddarth Srivastava, M.D., Pediatric Neurologist specializing in Neurogenetics, Boston Children’s Hospital

Topic: Different functional outcomes of distinct MEF2C variants, Jayne Aiken, Ph.D., Assistant Professor of Biomedical Sciences Colorado State University

Topic: Using mouse body language to test treatments for ASD, Sandeep Robert Datta, M.D., Ph.D., Harvard Medical School. During this discussion, Dr. Sandeep Robert Datta will introduce us to the use of artificial intelligence to characterize body language and explain value. He will provide examples of our use of these technologies to study other ASD and how they can capture reversions, as related to planned experiments in MEF2C mice to look for reversions at different ages.

Topic: Small-molecule discovery and human iPSC-derived neurons, Joseph Buxbaum, Ph.D., Icahn School of Medicine at Mt. Sinai, Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, Director of the Seaver Autism Center for Research and Treatment, Vice Chair for Research and for Mentoring in the Department of Psychiatry, Shruti Iyer, Ph.D. Genetics, Postdoctoral Fellow in the Yang Lab at Icahn School of Medicine at Mt. Sinai. During this presentation, Dr. Joseph Buxbaum and Dr. Shruti Iyer will discuss combining small-molecule discovery with disease modeling in human iPSC-derived neurons, by evaluating RNA-targeted small molecules designed to upregulate gene expression in MEF2C deficiency.

Topic: Genetics 101, Misia Kowanda, Ph.D, M.S.c, CGC, Postdoctoral Fellow, Simons Searchlight, ETH Zurich