The Sidney Kimmel Comprehensive Cancer Center

The Telomere Clinic at Johns Hopkins was the first of its kind and started evaluating patients and providing multidisciplinary care since 2003. The Telomere Clinic is deeply tied to a long-standing research program where collaborative studies between patients and researchers have led to critical discoveries that have transformed the understanding and bedside care of affected patients, both children and adults. 

Experts include pediatric and adult doctors who specialize in hematology, oncology and genetics as well as a specialized bone marrow transplantation approach for patients with short telomere syndromes. The Telomere Clinic at Johns Hopkins has been at the forefront of coordinating care across disciplines including immunology, gastroenterology, hepatology and liver transplantation, and pulmonary medicine and lung transplantation teams among others. 

The Telomere Clinic is one arm of the Telomere Center at Johns Hopkins, a translational program which serves national needs to advance patient care in this area of medicine.

The Telomere Diagnostics Lab is the only clinical testing laboratory of its kind in the United States and it is housed within Johns Hopkins Hospital. In 2025 alone, it served nearly  4,000 patients. 

Treatments

Timing of treatment

Most patients do not require treatment for many years, and the focus is avoiding unnecessary and harmful interventions. Telomere length can be useful in helping to assess the risk for each patient and individualizing the surveillance and treatment program.

Stem cell transplant/Bone marrow transplant

Treatment for severe bone marrow failure and/or primary immunodeficiency due to short telomere syndromes is bone marrow/stem cell transplantation, in which a patient’s bone marrow and immune system are replaced with that of a healthy donor’s. Reduced intensity transplant offers new, safer options for patients with short telomere syndromes, including dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

A new trial funded by the Maryland Stem Cell Foundation is studying earlier timing of transplant to allow for consideration of other complications of short telomere syndromes such as the risk of subsequent liver disease and need for liver transplantation. Building on long-standing experiences at Johns Hopkins Kimmel Cancer Center, this study is also examining the options of half-matched stem cell donors ensuring virtually every individual has a donor.

Lung and liver transplantation

Johns Hopkins physicians have one of the longest standing experiences in lung and liver transplantation for short telomere syndromes (Silhan et al. Eur Respir J 2014, Gorgy et al. Chest 2015 and Oseini et al. Liver Transpl 2021 and others).

Innovative new lung transplant protocols that overcome new complications were developed here and disseminated across the world (Shah and Armanios Eur Respir J 2025).