Basil Darras's research has focused on the molecular genetics, diagnostics and therapeutics of pediatric neuromuscular diseases. Two conditions he specializes in, from a clinical and research perspective, are Duchenne muscular dystrophy (DMD) and spinal muscular atrophy. He was one of the first to describe germline mosaicism in DMD, a biological phenomenon with important implications for the genetic counseling of affected families.
Through his clinical and research experience, shared in papers, chapters, books and conference presentations, Dr. Darras has influenced clinical care in the field of pediatric neuromuscular diseases both nationally and internationally. He has contributed significantly to the development of methodologies for DNA-based molecular diagnostics of the muscular dystrophies. Further, he has attempted to define the indications for the new diagnostic tests, re-delineate the role of traditional procedures and develop algorithms illustrating the recommended diagnostic approach to the evaluation of children with neuromuscular diseases.
Dr. Darras is also actively working to further research in spinal muscular atrophy (SMA). He has joined top clinicians and researchers in New York City and Philadelphia to create the Pediatric Neuromuscular Clinical Research (PNCR) Network. This project, funded by the SMA Foundation, seeks to develop the necessary infrastructure for efficient phase I and II clinical trials in patients with SMA. These trials will be aimed at testing candidate drugs, using innovative clinical trial designs to minimize study duration and sample size. In building the infrastructure for clinical trials, Dr. Darras was the principal investigator for an observational study to learn more about the natural history of SMA and to ascertain the outcome measures available for future trials. The results of this study will be published in the near future. More information about the PNCR network and its current research studies on SMA can be found at: http://www.urmc.edu/sma.
About Basil Darras
Basil Darras received his MD from the University of Athens, Greece. He completed an internship and residency in pediatrics at the State University of New York at Stonybrook and fellowships in Child Neurology and Medical Genetics at Tufts-New England Medical Center and Yale University School of Medicine, respectively. He is currently Director of the Division of Clinical Neurology at Boston Children's Hospital and Professor of Neurology at Harvard Medical School.