There are a lot of rare diseases that strike a small number of people and some of them are actually novel maladies that have to be identified and studied. The National Institutes Of Health (NIH) has just begun a new program to help doctors work with such patients, combining resources at leading institutions across the country to identify the genetic causes of various conditions. Seven centers, including the NIH headquarters in Bethesda, Maryland, are participating in the Undiagnosed Diseases Network (UDN) for which a patient portal, called UDN Gateway, has been setup to recruit potential study subjects. Additionally, two DNA sequencing centers will be involved in providing genomic information gathered from patient samples.
The UDN Gateway provides a central place for patients to apply for the program instead of working with individual hospitals. It’s an online platform, and so no longer requires submitting paper applications to get the process started. The program expects to sign up approximately fifty patients in each of the participating clinical facilities.
Here’s a discussion of the new program with UDN’s co-coordinators William A Gahl, M.D., Ph.D. and Anastasia L. Wise, Ph.D:
Source: National Institutes of Health…