W. Ted Brown, MD, PhD, is the Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Chair of the IBR Department of Human Genetics and Director of the IBR Jervis Clinic.  He is a fellow of the American College of Medical Genetics and adjunct Professor at the State University of New York- Downstate Medical Center in Brooklyn.

Dr. Brown received a B.A. degree in 1967, an M.A. degree in 1969, and a PhD in 1973 in Biophysics from the Johns Hopkins University.  He received an M.D. from Harvard Medical School (Cum Laude) in 1974.  He trained in Internal Medicine in New York City, undertook a fellowship in Clinical Genetics and was appointed as an assistant Professor of Medicine at The New York Hospital-Cornell University Medical Center in 1978.  He began research into Premature Aging Syndromes and Down syndrome while on the Cornell Medical School Faculty and was an Attending Physician at New York Hospital, and a faculty member of Rockefeller University.  In 1981, he moved to become Chairman of the Department of Human Genetics. In 1991, he was appointed the Director of IBR’s Jervis Clinic and in 2005 became IBR’s Director. He is the author of more than 300 publications.  At IBR, his initial research was on Down syndrome genes.  He began research focused on the Fragile X syndrome, which was then newly recognized and is considered to be the most common inherited cause of mental retardation. At IBR, he established a DNA diagnostic and molecular laboratory. He developed a screening  and prenatal testing program for Fragile X. He was the first to describe a relationship between autism and the Fragile X syndrome. His work on Fragile X has ranged from clinical studies relating to phenotype, to family inheritance studies, to mouse model development, and to basic molecular research.

His current research is focused on autism genetics and the Fragile X syndrome. Dr. Brown has remained a recognized world authority on Progeria, a rare and tragic disease that afflicts young children with premature aging and was instrumental in the discovery of the genetic mutation that causes this disease. Dr. Brown serves on the editorial board of the American Journal of Intellectual and Developmental Disability. He has served on the scientific advisary board for Cure Autism Now, the Progeria Research Foundation, and the National Fragile X Foundation.

Presentation Title

The Fragile X Syndrome and Autism

Abstract: The Fragile X Syndrome is the most common inherited cause of intellectual disability. Fragile X has a population incidence of approximately 1 in 4,000 affected (full-mutation) males, 1 in 6,000 affected females, 1 in 700 premutation carrier males and 1 in 260 carrier females. This disorder typically causes moderate to severe mental retardation in affected males, and milder retardation in affected females.  It is associated with autism or PDD-NOS in about 70% of affected males, and most affected individuals evidence some autistic-like behaviors. Fragile X syndrome is considered to be the most common known single gene cause of autism. It is estimated that Fragile X accounts for 2-4% of retardation overall, and is second to Down syndrome as a genetic form of retardation. The lack Fragile X Protein (FMRP) in the syndrome, an mRNA finding protein, leads to overexpression of the glutamate (stimulatory) and underexpression of the GABA (inhibitory) pathways in the brain. Current experimental treatment trails are being carried out with glutamate blockers and GABA stimulatory drugs, and may also be useful in autism.  The underlying defects in neurochemical pathways in both conditions may have much in common, involving the ERK, mTOR and PI3K signaling pathways.