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Hospital Title
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Director, Neuromuscular Program
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Academic Title
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Professor of Neurology
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Phone
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617-355-8235
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Fax
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617-730-0279
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Email
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basil.darras@childrens.harvard.edu
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Location
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300 Longwood Avenue
Boston MA 02115
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Basil Darras' 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 (SMA). He was one of the first to describe the phenomenon of germline mosaicism in DMD; the description of this biological phenomenon in DMD has had important implications for the genetic counseling of DMD families. Through his clinical and research experience, as 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 employed in DNA-based molecular diagnostics of 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
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Currently, Dr. Darras is actively working to further research in SMA. He has joined top clinicians and researchers in New York City and Philadelphia to create the Pediatric Neuromuscular Clinical Research Network for SMA clinical trials. The goal of this project, funded by the SMA Foundation, is to develop the necessary infrastructure for efficient phase I and II clinical trials in 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 is the principle investigator for a current observational study which is intended to learn more about the natural history of SMA and evaluate better the outcome measures available to us for future trials. More information about the PNCR network and our current research studies on SMA can be found at: http://www.urmc.edu/sma/
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Basil Darras received his MD form the University of Athens, Greece. He has 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 the Director of the Neuromuscular Program at Children's Hospital Boston and Professor of Neurology at Harvard Medical School.
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- Darras BT, Francke U: A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature 1987; 329:556-558.
- Darras BT: Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990; 117:1-15.
- Darras BT, Jones HR: Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis. Pediatr Neurol 2000; 23(4):289-300.
- Kang PB, Lidov HGW, David WS, Torres A, Anthony DC, Jones HR, Darras BT: The diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol 2003; 54:790-795.
- Wu JY, Kuban K, Allred EN, Shapiro F, Darras BT. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005; 20(10):790-795
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