NIA at Harbor Hospital
The National Institute on Aging (NIA) maintains a cutting-edge clinical research unit at Harbor Hospital, Baltimore. Under the direction of Dr. Nazli McDonnell at the NIA clinical unit, more than 800 patients from around the world have been enrolled in a natural history study of hereditary disorders of connective tissue. The patients enrolled in longitudinal follow-up receive a comprehensive 2-day evaluation, including genetic testing, medical examinations, and cardiovascular imaging studies. Many of these patients meet the eligibility criteria for and are recruited into the GenTAC Registry during their visit to the NIA facility.
Nazli B. McDonnell, MD, PhD
Nazli B. McDonnell, MD, PhD, has been an NIA clinician in medical genetics since 2003. Her research is focused on clinical and molecular investigations of hereditary disorders of connective tissue, in particular EDS, Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes, and fibromuscular dysplasia. Dr. McDonnell is investigating the natural history of these disorders, and studying genotype/phenotype correlations and molecular and cellular mechanisms and exploring treatment strategies using plasma and tissue samples from affected patients. In collaboration with Dr. Mark Talan at the NIA Laboratory of Cardiovascular Science, Dr. McDonnell has been working with a mouse model of vascular EDS to discover and assess treatment strategies. She is also investigating the role of tenascin X mutations and deletions in hypermobile EDS and congenital adrenal hyperplasia together with Dr. Deborah Merke of the Eunice Kennedy Shriver National Institute of Child Health and Human Development.
Benjamin F. Griswold is the clinical research coordinator with the NIA GenTAC site in Baltimore. Mr. Griswold has a bachelor’s degree in biochemistry from Ursinus College, Pennsylvania. He joined NIA as a postbaccalaureate research training award recipient in 2005 in Dr. Clair Francomano’s group. He subsequently joined Dr. Nazli McDonnell’s lab and continued to work on projects related to hereditary disorders of connective tissue, initially focusing on Stickler syndrome and Fibromuscular Dysplasia of the Arteries. His current research interest is Vascular form of Ehlers-Danlos Syndrome. Mr. Griswold is responsible for all aspects of enrollment to GenTAC, including recruitment, sample collection, and completion of forms.