Gene Discovery Core, The Manton Center

Launched by BOSTON CHILDREN'S HOSPITAL · Apr 14, 2016

Keywords

ClinConnect Summary

The Gene Discovery Core at The Manton Center for Orphan Disease Research, located at Boston Children's Hospital, is conducting a clinical trial to help understand rare genetic conditions that are not well understood or still undiagnosed. The main goal of this research is to identify the genes involved in these rare diseases, which could lead to better diagnoses and treatments in the future. If you or a family member has a rare or uncertain diagnosis that might have a genetic component, you may be eligible to participate in this study.

Participants in the trial will provide DNA and tissue samples, when available, and share their medical records. The research team will analyze these samples to search for the genetic causes of the condition. If a cause is found, the results will be shared with the family through their healthcare provider. The study is open to individuals of all ages and genders who meet the eligibility criteria, including those with a known or uncertain rare diagnosis or those related to someone with such a diagnosis. This trial offers a valuable opportunity to contribute to important research that could benefit many families facing similar challenges.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and/or be a relative to a person with such a diagnosis
• Exclusion Criteria:
• • Not having such a diagnosis and/or not being related to such an individual