My clinical and research interests focus on disorders caused by telomere dysfunction. Our goal is to define approaches to surveillance, diagnosis and treatment for patients with telomere-mediated disease. Human syndromes associated with telomere shortening were first identified in the context of dyskeratosis congenita, a premature aging syndrome that predisposes to cancer. Dyskeratosis congenita patients and patients with telomere-mediated syndromes have an increased risk for developing certain malignancies which include myelodysplastic syndromes, myeloid leukemia and squamous cell carcinomas of the upper aerodigestive tract.
The Telomere Clinic in the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins provides multi-disciplinary care to patients who are suspected to have or who carry the diagnosis of telomere-related disorders. These disorders include individuals with cancer, bone marrow failure/aplastic anemia, lung disease including idiopathic pulmonary fibrosis and liver cirrhosis, among others. Our clinic brings together geneticists, genetic counselors, and we work closely with expert physicians in adult and pediatric hematology, bone marrow transplant, pulmonary medicine, lung transplant medicine, hepatology, and otolaryngology. Together, our team has established expertise in the management of these disorders, and is at the forefront of leading the effort to individualize care for affected patients and their families. My group also has ongoing research efforts which include a long-term study to understand the genetics and spectrum of telomere disorders through a Registry which has been based at Johns Hopkins since 2005.