Nazli McDonnell, MD, PhD

National Institute on Aging, NIH

Nominated by: Ehlers-Danlos National Foundation

The Ehlers-Danlos National Foundation is honored to nominate Dr. Nazli McDonnell, MD, PhD, to the NORD "Rare Disease Day Hall of Fame". Our specific nomination is a result of her research into clinical and molecular manifestations of heritable disorders of connective tissue, specifically Ehlers-Danlos syndrome.

Dr. McDonnell graduated from University College Cork and Towson University with a BA Degree in philosophy and a BS 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 her MD/PhD program at the University of Maryland Medical School in 1998. Her PhD 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 PhD 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 in the Metropolitan Washington DC Genetics Fellowship Training Program of the 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 to study hereditary disorders of connective tissue. Upon Dr. Francomano's departure, she moved to the Laboratory of Clinical Investigation.

Dr. McDonnell's research is focused on clinical and molecular investigations of hereditary disorders of connective tissue. 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, as well as studying genotype/phenotype correlations, molecular and cellular mechanisms, and exploring treatment strategies in the laboratory.