Browse the research registry public · Customer Self-Service

Research registry ID

Date submitted

Project lead

Title

Gene discovery and establishment for rare pediatric conditions

Community 1

Community 2

Community 3

Lay summary

Rare diseases are a major cause of illness and death in children. There are thousands of different diseases and they affect ~100 million people around the world. Many, if not most, are genetic conditions caused by specific changes in DNA. Current genetic testing can diagnose one-third to one-half of patients with rare disorders, which tells us that many of the genes responsible have not yet been discovered. Genome sequencing in families with rare diseases can help identify those "missing" genes. However, it remains challenging since the patients affected can be anywhere in the world. In this project. We already use data sharing websites such as GeneMatcher to connect investigators who are interested in the same gene. In this project, we will also query the Genomics England resource to identify patients and families who have variants in candidate disease genes. Although these individuals have been de-identified, their genetic and health information can help us prioritize the candidates most likely to provide a diagnosis for many patients. This will not only help us diagnose more patients, but also will help us better understand the genetic basis of rare diseases and eventually to improve how we treat them.

In this section