Stephen T Warren, Ph.D., FACMG
William Patterson Timmie Professor of Human Genetics
Charles Howard Candler Chair in Human Genetics
Department of Human Genetics
Biochemistry and Pediatrics
Additional Contact Information
Whitehead Biomedical Research Building
615 Michael St
Atlanta, GA 30322
Steve Warren received his Ph.D. in Human Genetics from Michigan State University in 1981 and completed his postdoctoral training at the University of Illinois College of Medicine. While at the University of Illinois, Dr. Warren also spent time as a visiting scientist at the European Molecular Biology Laboratory in Heidelberg. In 1985 he was recruited to Emory as an Assistant Professor of Biochemistry with a joint appointment in the Department of Pediatrics. Currently, Dr. Warren is William Patterson Timmie Professor of Human Genetics, Charles Howard Candler Chair in Human Genetics, and the Founding Chair of the Department of Human Genetics. He also holds secondary appointments in the Departments of Pediatrics and Biochemistry. He is a Founding Fellow of the American College of Medical Genetics and a Diplomat of the American Board of Medical Genetics with specialty certification in both clinical cytogenetics and clinical molecular genetics.
Dr. Warren has held various national and international service positions. He serves or has served on the Editorial Boards of eleven other scientific journals, seven currently including being Associate Editor of the Proceedings of the National Academy of Sciences, USA. From 1999 – 2005 he was Editor-in-Chief for the American Journal of Human Genetics, the first PhD to hold this position since the journals founding in 1949. He has held several committee memberships in the American Society of Human Genetics, including election to the Board of Directors in 1997 and serving as President in 2006. Dr. Warren has been a member of the NIMH Council and the NIMH Board of Scientific Counselors.
Dr. Warren has received numerous awards and accolades in recognition of his contributions to the scientific community. In 1991 Dr. Warren was named as Associate Investigator of the Howard Hughes Medical Institute and was promoted to Full Investigator in 1995. He has also received the Albert E. Levy Faculty Award from Emory University, the inaugural William Rosen Research Award from the National Fragile X Foundation, and a MERIT award from the National Institutes of Health. In 1999, Dr. Warren was awarded the William Allan Award from the American Society of Human Genetics for his research on fragile X syndrome. He was an inaugural inductee of the National Institute of Child Health and Human Development’s Hall of Honor and was elected to the Institute of Medicine of the National Academies in 2004. He won the William Rosen Research Award an unprecedented second time from the National Fragile X Foundation in 2006. He was also awarded the Michigan State University Outstanding Alumni Award, the Brandwein Award in Genetic Research, the “Champion for Babies” award from the March of Dimes, the Jacob’s Ladder International Research Prize, the American Academy of Neurology “Frontiers in Clinical Neuroscience” Award, the March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in Genetics, Emory University Distinguished Faculty Award and the Association for Molecular Pathology Award for Excellence in Molecular Diagnostics. In 2011, Dr. Warren was elected to membership in the National Academy of Sciences (NAS), one of the highest honors given to a scientist in the United States.
Dr. Warren is best known for his genetics research on intellectual disability (ID). It had been appreciated since the 1930s that cognitive impairment was more common in males than females, subsequently leading to the hypothesis that there are likely genes on the X chromosome (of which males have only one copy) that, when mutated, result in ID. In the 1960s it was discovered that rather than many genes on the X chromosome that are involved in ID, a single locus accounted for most X-linked ID and this disorder was later called fragile X syndrome. Dr. Warren organized and led an international group of collaborators that isolated the FMR1 gene responsible for this syndrome in 1991. The cloning of this locus also discovered, for the first time, a trinucleotide repeat expansion mutation, now known to be responsible for dozens of diseases. Dr. Warren subsequently demonstrated that the expanded FMRI repeat in patients leads to transcriptional suppression and the absence of the encoded protein, FMRP. He has shown that this protein is a selective RNA-binding protein and identified FMRP associated mRNAs. He has demonstrated that FMRP is involved in the regulation of local protein synthesis at the synapse and that in the absence of FMRP, the FMRP-associated mRNAs are over translated, in an activity-dependent manner. He has shown that this leads to enhanced AMPA receptor internalization and directly to weakened synaptic strength, likely the direct cause of the cognitive deficit in patients. This decades long investigation into this disorder has led to a theory that posits therapeutic approaches using mGluR antagonists and Dr. Warren recent completed a chemical library screen to rescue FMRP-deficient phenotypes and identified GABA agonists as additional candidate drugs. This work has now directly led to several ongoing clinical trials, here at Emory and elsewhere, of drugs of both classes to evaluate the therapeutic efficacy in fragile X syndrome.
Current work in the Warren laboratory involve elucidating the regulation of FMRP at the synapse, particularly involving phosphorylation; functional studies of conventional mutations of FMR1 found in patients with intellectual disability and/or autism spectrum disorder; mechanisms of the transcriptional silencing of FMR1 in full mutations induced pluripotent stem cells; and characterization of recently identified nuclear functions of FMRP. In addition, we continue our work on the genetics of schizophrenia, following up on our discovery of 3q29 deletions, while extremely rare in patients, greatly elevate risk. We are in the process of recapitulating the deletion in the mouse and ultimately identify the responsible gene.We also are part of an international consortium seeking to identify genes that contribute to the extremely high risk of schizophrenia among patient with 22q11.2 deletion syndrome.
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