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Bryan Traynor, M.D., MMSc, MRCPI, Assistant Clinical Investigator Head, Neuromuscular Diseases Research Group Laboratory of Neurogenetics E-mail: traynorb@mail.nih.gov |
| Biography: Dr. Bryan Traynor is a neurologist whose research interests focus on the genetics of amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases. Dr. Traynor graduated as a medical doctor from University College Dublin in 1993 and received his medical doctorate in the genetics and epidemiology of ALS in 1999. At that time, he moved to Boston where he completed his neurology residency training and fellowship at the Massachusetts General Hospital and Brigham and Women’s Hospital. He received a Masters in Medical Science from Harvard University and Massachusetts Institute of Technology in 2004, and, in the same year, was appointed as a staff neurologist in Massachusetts General Hospital and as an instructor at Harvard Medical School. In 2005 he joined the NIH where he has been studying the genetic causes of ALS and other neurological diseases. In 2009 he was appointed as an Assistant Clinical Investigator. Dr. Traynor’s group researches the genetic and cellular mechanisms underlying simple-Mendelian and complex neuromuscular and neurodegenerative diseases. |
| Overview:
Tremendous progress has been made in identifying genetic mutations that cause disease; these discoveries have led to a greater understanding of the underlying biological processes in these disorders, and for several, such as Alzheimer’s disease, the targeting of specific points in these pathways for testing of therapeutic intervention (e.g. amyloid-beta immunotherapy). This is the clear goal of genetic investigation of disease: to understand the pathogenesis of disease, and to use that understanding to halt or reverse the disease process. |
| The Neuromuscular Disease Research Group at the National Institute on Aging focuses on dissecting the genetic pathogenesis of neuromuscular and neurodegenerative diseases. Advances in genotyping and sequencing technology have ushered in the era of genomics, and the group has applied these powerful techniques to identify causative genetic factors underlying neuromuscular disorders, especially amyotrophic lateral sclerosis (ALS). NDRG has published three genome-wide association studies of ALS, and the raw genotype data for these studies are publicly available so that other researchers can datamine these large datasets for their region of interest. More recently, we have begun to use exome sequencing of selected familial cases to uncover genetic mutations underlying motor neuron diseases. In addition, the laboratory investigates the genetic and epigenetic determinants that underlie regional differences in gene expression within the central nervous system, particularly the spinal cord. A more complete understanding of regional gene expression patterns in normal tissue may shed light on why neuronal subpopulations are selectively damaged in neurodegenerative diseases such as the loss of motor neurons in ALS. Ultimately, this knowledge will serve as a road map for future genetic investigation of neurological disease. |
Determining the genetic variants that underlie complex diseases is only the beginning. To impact patient care, these discoveries need to be returned to everyday clinical practice as diagnostic tools and as therapy. However, translating what we learn about genetic variants for the population as a whole to the bedside of an individual patient is tremendously challenging. The resources of the NIH Clinical Center allow patients to be evaluated in a longitudinal, prospective manner. Establishing cohorts of patients with known diseases and genetic backgrounds will begin to address these issues in a meaningful, scientifically rigorous manner. |
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