Seminar – Richard Finnell, PhD – “Embryonic Consequences of Abnormal Folate Transport”

Dr. Richard H. Finnell has been involved in investigating genetic susceptibility to environmentally induced birth defects, applying multi-omic approaches to the detection of potential teratogenic compounds in efforts to prevent these birth defects, developing mouse models to understand the pathogenesis of complex structural malformations, and using highly innovative stem cell therapies to treating these disabilities.

Harry A. Waisman Memorial Lecture – Stephen Scherer, PhD, DSc FRSC – Understanding the Composition of the Human Genome for Studies of Genetic Disease

Dr. Stephen Scherer’s research includes understanding the composition of the human genome for studies of genetic disease built around three themes: 1) gene copy number and structural variation in the human genome, 2) determining the genetic architecture in autism spectrum and related- disorders and using this information to help families, and 3) developing infrastructure and capacity in Canada for translational genomics research.

Seminar – Jonathan Santoro, MD – “Down Syndrome Regression Disorder: Neuroinflammation and Response to Immunotherapeutics”

Dr. Santoro serves as the Director of Neuroimmunology and Demyelinating Disorders Program at Children’s Hospital Los Angeles. He is also an assistant professor of neurology at the Keck School of Medicine at USC. Santoro has been instrumental in identifying systemic vascular abnormalities in persons with Down syndrome and moyamoya disease, a rare stroke disorder which affects persons with Down syndrome 26 times more frequently than the general population. Santoro also has clinical research expertise in inflammation as it related to cerebrovascular disease and neurocognitive disorders such as Down syndrome regression syndrome, of which he spoken on internationally.

Seminar – Carlos Portera-Cailliau, MD, PhD – “Cortical Circuits in Neurodevelopmental Disorders”

Dr. Carlos Portera-Cailliau investigates synaptic and circuit changes in the mouse model of Fragile X syndrome in his lab at the UCLA David Geffen School of Medicine, where he is on faculty. He has received grants from the NIH, the Dana Foundation, the March of Dimes Foundation, the Simons Foundation, and the John Merck Fund. From 2013 to 2021 he was the co-director of the UCLA-Caltech medical Scientist Training Program. He still sees patients in the movement disorders clinic.