Telomere biology disorders care

Home to one of the nation’s few dedicated Centers of Excellence for adults with telomere biology disorders, Penn Medicine delivers coordinated, research-driven care for these rare and complex cases.
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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.

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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