Stuart A. Scott is an Assistant Professor in the Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, and is an Assistant Director of the Mount Sinai Genetic Testing Laboratory. Dr. Scott did his Ph.D. on leukemia epigenetics at the University of Saskatchewan, Canada, under the mentorship of Dr. John DeCoteau. In 2005, he then joined the American Board of Medical Genetics (ABMG) postdoctoral clinical molecular genetics training program at Mount Sinai School of Medicine and was certified in 2007. Dr. Scott then did additional laboratory training in cytogenetics, which lead to his second ABMG certification in clinical cytogenetics in 2009. In addition to clinical molecular genetics, cytogenetics, and epigenetics, Dr. Scott’s research interests also include the field of pharmacogenetics, studying the role of heritable genetic variation in drug response.
During his ABMG training, Dr. Scott was directly involved in implementing an expanded Ashkenazi Jewish genetic disease carrier screening panel in the molecular laboratory as well as an array-comparative genomic hybridization platform for postnatal diagnosis in the cytogenetics laboratory. Additionally, Dr. Scott setup the pharmacogenetic testing menu at the Mount Sinai Genetic Testing Laboratory that includes genes commonly implicated in adverse drug responses (e.g., CYP2C19, CYP2D6) and warfarin dosing (e.g., CYP2C9, VKORC1). A major area of his research involves studying the population structure of pharmacogenetic genes and their variant alleles by surveying different racial and ethnic populations of the New York metropolitan area. As such, the identification and characterization of novel pharmacogenetic alleles is an ongoing area of his research. In collaboration with Mount Sinai cardiologists, current studies are investigating the role of variant alleles in warfarin dosing with additional ongoing studies on antiplatelet pharmacogenetics. Mount Sinai is a clinical site for the NHLBI-sponsored Clarification of Optimal Anticoagulation Through Genetics (COAG) warfarin pharmacogenetics clinical trial and Dr. Scott oversees the rapid genotyping required at their site. Consistent with his clinical training and pharmacogenetic interests, Dr. Scott is also a member of the Clinical Pharmacogenetics Implementation Consortium (CPIC) whose goal is to provide peer-reviewed and evidence-based practice guidelines to facilitate the clinical adoption of pharmacogenetic testing. In addition, Dr. Scott was recently appointed Co-Director of the Clinical Laboratory Fellowship Program at the Mount Sinai School of Medicine.
Fowzan S. Alkuraya obtained his M.D. with honors from King Saud University College of Medicine in Riyadh where he was the valedictorian of his class. Following his graduation, he joined the Georgetown University Hospital Pediatric Residency Program where he did his internship and residency. He then joined the Harvard Medical Genetics Training Program as a clinical as well as a clinical molecular genetics fellow. He was also a postdoctoral research fellow at Richard Maas' lab at the Brigham and Women's Hospital.
Dr. Alkuraya's passion in medical genetics dates back to when he was at medical school. As a final year medical student he conducted a study to investigate the influence of religious ruling on attitude towards abortion among families with genetic disorders in Saudi Arabia. As a pediatric resident, he expanded the phenotype of septo-optic dysplasia. During his fellowship, he led a very active basic research career in developmental biology and developmental genetics specifically in the area of craniofacial and eye development which earned him the Best Research Award for Fellows from Children's Hospital Boston.
Dr. Alkuraya currently is an instructor of pediatrics at Harvard Medical School, an assistant professor of Human Genetics at Alfaisal University and a scientist at King Faisal Specialist Hospital and Research Center. He runs an active clinical genetics program and heads a lab focused on the study of genetics of eye and craniofacial birth defects. He is an expert on homozygosity mapping as a tool in clinical genetics as well as in his research which allowed him to characterize the underlying genetic defect for a number of developmental disorders. He is the recipient of the 2008 Tamayoz Award from Dubai-Harvard Foundation for Medical Research and is a member of the Society for Pediatric Research.
Dr. Heather Christy Mefford is a Pediatrician and Medical Geneticist at the University of Washington and Seattle Children's Hospital in Seattle, WA. After completing her undergraduate studies in chemical engineering at Washington University in St. Louis, Heather entered the MSTP (MD/PhD program) at University of Washington in 1995. Her graduate work in the Department of Genetics (now Genome Sciences) was with Dr. Barbara Trask, where she focused on understanding the evolutionary relationship of duplicated sequences near the ends of human chromosomes. It was during her thesis work that she developed an interest in chromosome structure - specifically complex and duplicated regions of the human genome - and how certain structures might facilitate disease-causing chromosomal rearrangements. After completing the M.D./Ph.D. program in 2003, she stayed to pursue training in both Pediatrics and Medical Genetics at the University of Washington.
During her Medical Genetics fellowship, Dr. Mefford found a place to combine her scientific and clinical interests in the lab of Dr. Evan Eichler. Her current research focuses on regions of the human genome that are especially susceptible to rearrangement because of their genomic structure, and how small deletions and duplications of these regions contribute to pediatric disease. She has played a pivotal role in describing several new syndromes important in clinical genetics. She identified a deletion on chromosome 17q12 that causes pediatric renal disease and diabetes. She has also described the clinical features associated with deletions on chromosome 1q21 and 15q13, both of which result in a wide range of developmental problems including mental retardation, autism and epilepsy.
Dr. Mefford is continuing to investigate deletions and duplications as a cause of developmental abnormalities and birth defects in the Department of Pediatrics at the University of Washington. In addition, she has a clinical practice in the Medical Genetics clinic at Seattle Children's Hospital. She lives in Seattle with her husband, Chris and their two children.
Ralph DeBerardinis, M.D., Ph.D. is Assistant Professor of Pediatrics and Genetics at the University of Texas - Southwestern Medical Center in Dallas, TX. Dr. DeBerardinis graduated from St. Joseph's University in Philadelphia, PA with a degree in Biology. He then joined the M.D./Ph.D. program at the University of Pennsylvania and performed his thesis research on retrotransposition of mammalian L1 elements under the mentorship of Haig H. Kazazian, M.D. in the Department of Genetics. The experience stimulated a deep interest in the connections between genetics and human health. After graduation Dr. DeBerardinis joined the Combined Residency Program in Pediatrics and Genetics at The Children’s Hospital of Philadelphia, ultimately obtaining Board Certification in Pediatrics, Medical Genetics and Biochemical Genetics.
Dr. DeBerardinis' clinical work focuses on the inborn errors of metabolism and newborn screening. In the laboratory, he performed post-doctoral research with Craig B. Thompson, M.D. in the Abramson Cancer Center at Penn, focusing on the impact of signal transduction pathways on cellular metabolic activities, and how these activities support cell growth and cancer. Since January, 2008, Dr. DeBerardinis has an independent laboratory at the University of Texas - Southwestern, where he continues to explore the mechanisms by which cell signaling influences metabolism, and is seeking ways to apply this information to the diagnosis and treatment of children with genetic metabolic diseases. Dr. DeBerardinis has received several awards for clinical work, teaching and basic science research, including the Roy G. Williams Award from Penn, the Senior Resident Clinician Award from the Children's Hospital of Philadelphia, and the Neil Buist Award from the Society for Inherited Metabolic Disorders.
Amy Roberts, M.D. received her undergraduate degree in Biology and Women’s Studies from Swarthmore College and her medical degree from Dartmouth Medical School. During her pediatrics residency at the University of Massachusetts Medical School she became interested in clinical genetics and worked with Laurie Demmer, M.D. studying primary care physicians’ knowledge of the ethics of genetic testing. Following her residency, Dr. Roberts was accepted into the Harvard Medical School Genetics Training Program. In her second year of training she began to work with her research mentor, Raju Kucherlapati, Ph.D., on a genotype-phenotype correlation study for children and adults with a cardiovascular disorder, Noonan syndrome. A multi-center research protocol was established to recruit patients from across the country and around the world. Upon completion of her genetics training, Dr. Roberts joined the Cardiovascular Genetics Program in the Department of Cardiology at Children’s Hospital Boston and continues her Noonan syndrome research. She is board certified in both pediatrics and medical genetics. Her clinical practice includes children with heart disease and a broad range of genetic diagnoses including cardiomyopathy and Williams, Noonan, Cardiofaciocutaneous, Velocardiofacial, Ehlers Danlos, Marfan, Alagille, and Turner syndromes. Dr. Roberts also serves as a clinical geneticist at the Harvard-Partners Center for Genetics and Genomics and as associate physician and instructor in medicine at Brigham and Women’s Hospital. Dr. Roberts received the 2006 John M. Opitz Young Investigator Award for a research paper investigating the clinical presentation of children with subtelomeric chromosomal deletions and duplications. Dr. Roberts was the lead author of a paper published in 2007 that describes that mutations in the SOS1 gene are responsible for a significant proportion of cases of Noonan syndrome.
Dr. Ronald D. Cohn is Assistant Professor in the Department of Pediatrics and Neurology and in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. Dr. Cohn attended the University GHS Essen School of Medicine (Germany) and completed an internship in pediatrics at the Children’s Hospital of the University of Essen. He became interested in neuromuscular diseases during his first year of medical school when he studied the metabolism profile of patients with lipid storage myopathies. Toward the end of medical school, his interest broadened to include the clinical management and basic science aspects of muscular dystrophies. After completion of his internship in Essen, he started a three-year postdoctoral fellowship in the laboratory of Dr. Kevin Campbell at the Howard Hughes Medical Institute and University of Iowa. Dr. Cohn’s research focused on the molecular mechanisms of abnormal muscle regeneration in the pathogenesis of muscular dystrophies. In 2001, he joined the five-year combined pediatrics-genetics residency program at Johns Hopkins University School of Medicine and served as Chief Resident. He continued to study the molecular aspects of muscle regeneration in muscular dystrophies and other myopathic conditions in the laboratory of Dr. Hal Dietz at the Howard Hughes Medical Institute at Johns Hopkins University School of Medicine. His research into the biology of the maintenance of muscle mass and regeneration as well as his clinical leadership in the field of neuromuscular disorders and hypotonia has earned him national and international recognition. He directs the medical genetics residency program at Johns Hopkins and led establishing a newly combined genetics residency program between Johns Hopkins and the NIH starting in 2011. He has received numerous prestigious awards. His multidisciplinary Johns Hopkins Center for Hypotonia, the first and only of its kind, has earned national and international recognition.