Telomere biology disorders care
Helping you navigate telomere biology disorders with confidence
Telomere biology disorders are rare, sometimes inherited conditions caused by genetic changes that affect telomeres, protective caps at the ends of chromosomes that help keep DNA stable as cells divide. Telomeres normally shorten with age, but with telomere biology disorders, they are abnormally short or shorten prematurely, which can prevent cells from repairing and renewing themselves. Telomere-related disorders such as dyskeratosis syndrome can affect bone marrow, lungs, liver, and other parts of the body.
Living with a telomere biology disorder often means managing uncertainty, challenging symptoms, and care needs that span multiple organ systems. Expert, coordinated care across a variety of medical specialties is critical. Penn Medicine is a leading center for the diagnosis and care of adults with telomere-related disorders, offering multidisciplinary expertise through the Penn Medicine Telomere Biology Program.
Nationally recognized care for telomere biology disorders
The Penn Medicine Telomere Biology Program is the only program in the region dedicated exclusively to the care of adults with telomere biology disorders and one of only a few such centers nationwide. Penn Medicine is certified as a Tier 1 Center of Excellence through Team Telomere, recognizing advanced expertise, multidisciplinary care, and a strong commitment to patient support, advocacy, and research collaboration.
Through participation in Team Telomere and active research collaboration, Penn Medicine helps advance understanding of telomere biology disorders while ensuring patients have access to the most current knowledge and care strategies available today.
An integrated approach to treating telomere diseases
People with telomere biology disorders are vulnerable to a wide range of conditions. These may develop and respond to treatment differently than in people who do not have telomere-related disorders.
Our fully integrated care model brings together experts in hematology and bone marrow transplantation, interstitial lung disease (ILD) care, lung transplantation, hepatology, oral medicine, immunology, genetics, and other subspecialties, who have specific expertise in these rare conditions. Rather than navigating multiple appointments across disconnected services, you’ll receive coordinated care designed around your individual needs, risks, and long-term health goals.
Telomere biology disorders often affect bone marrow and blood. Common issues include anemia, low platelet counts, and problems with the immune system. Some people have a higher risk of blood cancers. Regular blood tests and long-term hematology care help detect changes early and guide treatment. In severe cases, bone marrow transplantation may be considered.
Some patients develop interstitial lung disease (ILD), which causes scarring in the lungs and makes breathing difficult. Lung disease linked to telomere disorders may progress more quickly and requires specialized care. For advanced disease, evaluation at a center with lung transplant expertise may be needed.
Telomere biology disorders can also affect the liver over time. Some people develop liver scarring, portal hypertension, or liver failure. Regular screening and close monitoring help identify liver problems early, and transplant evaluation may be needed in advanced cases.
Many people with telomere biology disorders develop changes in the mouth, such as white patches (leukoplakia) or dental problems. These lesions can raise the risk of head and neck cancers. Routine oral exams help with early detection and treatment.
Because telomere biology disorders can be hereditary and can be passed on through generations, genetic testing and counseling play an important role in care. Genetics specialists help confirm the diagnosis, assess risk for family members, and guide screening and family planning decisions.
Your health partners for life
Through our partnership with Children’s Hospital of Philadelphia, Penn Medicine offers a seamless transition process for people diagnosed in childhood as they grow into adult care. In addition, we offer support for our patients and their young family members who may need evaluation or genetic counseling.
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