Research News

Cleveland Clinic has been designated a Tier 1 Center of Excellence for Telomere Biology Disorders by Team Telomere, an international advocacy organization dedicated to improving outcomes for people living with these rare genetic conditions.  

Team Telomere selected Cleveland Clinic based on its commitment to advancing coordinated and comprehensive care, advocacy, support, education, collaboration and research for the Telomere Biology Disorder community. At Cleveland Clinic, that commitment includes defining the genetic causes of these disorders and improving the quality and speed of diagnosis and treatments for patients and families. 

Those research advances, combined with a clinical team that spans hematology, oncology, bone marrow and solid organ transplantation, pulmonary medicine, hepatology, immunology, genetics and many other specialties, allow Cleveland Clinic physicians to diagnose and treat patients with the complex and multisystemic disease features of telomere biology disorders. 

As one of very few Tier 1 Centers of Excellence, Cleveland Clinic is designated as a destination for patients and families from across the world seeking care for these rare conditions.

"A lot of individuals with telomere biology disorders have complex medical needs and, unfortunately, can get turned away for care from major medical centers because their care requires several specialties working together," says Richa Sharma, MD, lead PI and primary contact of Cleveland Clinic’s Center of Excellence for Telomere Biology Disorders. "That's why becoming a Center of Excellence is important. We have the clinical and research expertise across multiple organ systems in pediatrics and adults to evaluate and treat patients who otherwise may have very few options." 

The discoveries of researchers like Dr. Sharma help equip physicians with new tools to diagnose and care for affected patients. Because these conditions can affect multiple organs and systems, effective treatment often depends on close collaboration among specialists. 

What are telomeres? 

Telomeres are DNA caps that protect genes at the ends of our chromosomes, like a plastic cap protecting the end of a shoelace. This protection is especially important when our cells divide. 

Every time our body makes new cells, our DNA is copied. During this process, proteins physically attach to and move along the DNA. As it moves down the existing DNA strand, the protein copies the part it touches and builds a brand new piece of DNA. 

Because the proteins stop before reaching the very end of the strand, every strand of newly copied DNA is slightly shorter than the one it was copied from. To prevent important genes from being lost, telomeres act as a protective buffer of non-coding DNA that can be shortened instead. As we age and our cells continue to divide, our telomeres become shorter and shorter. When a cell senses its telomeres have become too short, it stops dividing and releases chemicals that contribute to inflammation and biological aging. 

What are telomere biology disorders? 

Telomere biology disorders are inherited, whole-body diseases that occur when your telomeres are too long or too short compared to other people of the same age. Telomere biology disorders have been tied to bone marrow failure, pulmonary fibrosis, liver fibrosis, cancers and other systemic manifestations. Many of these disorders require bone marrow and/or solid organ transplants at some point for most patients. 

Researchers have identified almost 20 genes tied to specific telomere biology disorders in recent years. Dr. Sharma discovered and characterized two of the twenty.  

"Telomere biology disorders have existed for a long time, but our ability to recognize and genetically diagnose them is a working progress," says Dr. Sharma. "As genetic testing improves and researchers identify new disease-causing genes, we continue to discover the full range of clinical features that occur in patients with telomere biology disorders."