Genetic Testing Opportunity

For families with or suspected to have a Telomere Biology Disorder

About the Project: 

Team Telomere is collaborating with the Rare Genomes Project, a research program that performs genome sequencing on families with suspected genetic diseases.

Participation: 

Participation in the Rare Genomes Project is remote and free of cost. Eligible families will be asked to provide relevant medical information and a blood sample using a collection kit mailed directly to their homes. If a result is found, the RGP study will work with your doctor to confirm the result. This research process takes longer than routine genetic testing and not all families will have a result identified.

Eligible Participants: 

• Have a suspected Telomere Biology Disorder, consisting of a telomere length (as clinically measured by flow FISH) less than or equal to the 10th percentile for one’s age
• Have a suspected genetic cause that has not been identified due to a lack of access to genetic testing or prior testing being negative or inconclusive
• Live in the United States

Contact information: 

Phone: 855-534-4300

Website: https://raregenomes.org/ 

E-mail: raregenomes@broadinstitute.org

Additional Research Study Resources

To find current research and clinical trials that may be relevant to you, consider visiting ClinicalTrials.gov, a registry of clinical trials run by the United States National Library of Medicine at the National Institutes of Health. 

For more information on navigating ClinicalTrials.gov, consider reading Chapter 30 of our Diagnosis and Management Guidelines: “Finding Clinical Trials”

If you would like additional information or guidance, contact info@teamtelomere.org.