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Nazli B. McDonnell, M.D., Ph.D. Nazli B. McDonnell, M.D., Ph.D., Staff Clinician
Diabetes Section
Laboratory of Clinical Investigation

Biography:  Dr. Nazli McDonnell graduated from University College Cork and Towson University with a B.A. degree in philosophy and a B.S. degree in chemistry and biology. She subsequently worked as a research assistant in Dr. Jeff Corden's laboratory at Johns Hopkins Medical School, Department of Molecular Biology and Genetics. She completed the M.D./Ph.D. program in University of Maryland Medical School in 1998. Her Ph.D. supervisor was Dr. Michael Summers in the Department of Biochemistry and Molecular Biology at the University of Maryland, Baltimore County. The focus of Dr. McDonnell's Ph.D. research was the study of protein-drug interactions by Nuclear Magnetic Resonance Spectroscopy. Dr. McDonnell's clinical training consisted of a residency in Internal Medicine at York Hospital, Pennsylvania, and a Medical Genetics Fellowship at the Metropolitan Washington D.C. Genetics Fellowship Training Program at National Human Genome Research Institute at the National Institutes of Health. In 2003, Dr. McDonnell joined Dr. Clair Francomano's laboratory at the National Institute on Aging, Laboratory of Genetics to study hereditary disorders of connective tissue. Upon Dr. Francomano's departure, she moved to the Laboratory of Clinical Investigation. Her professional memberships include Sigma Xi, American Medical Association, American Women's Medical Association, American Association for the Advancement of Science, American Society of Human Genetics, and Phi Kappa Phi.
Research Interests:   Dr. McDonnell's research is focused on clinical and molecular investigations of hereditary disorders of connective tissue (HDCT). The disorders of interest are Ehlers-Danlos syndrome (EDS), Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes and fibromuscular dysplasia (FMD). Dr. McDonnell is investigating the natural history of these disorders at the NIA-ASTRA Unit, as well as studying genotype/phenotype correlations, molecular and cellular mechanisms and exploring treatment strategies in the laboratory in Laboratory of Clinical Investigation.
Current Laboratory Projects :  In collaboration with Dr. Mark Talan's group, we are working with a mouse model of VEDS to discover and assess treatment strategies for VEDS. Other investigations include the role of tenascin X (TNXB) mutations and deletions in Hypermobile EDS and in patients with Congenital Adrenal Hyperplasia (in collaboration with Dr. Debbie Merke, NICHD), the study of genotype/phenotype correlations in Stickler Syndrome (with Dr. Ala-Kokko), discovery of new causative genes for familial aneurysm syndromes and in families with HDCT where no mutation in the known genes such as COL5A1, COL5A2, COL2A1, COL11A1, COL3A1, TGFBR1, TGFBR2 or fibrillin has been identified (with Dr. Andrew Singleton). With help from the NIA Research Resources Branch, we are studying tissue samples from patients with connective tissue disorders utilizing cDNA microarray experiments and proteomics approach in order to identify treatment targets for the disorders of interest. Projects on the horizon include siRNA or pharmacological treatment strategies for dominantly inherited genetic disorders.
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Updated: Saturday October 20, 2012