National collaboration seeks to solve most difficult, rare medical cases

Clinicians and scientists from Baylor College of Medicine and Texas Children’s Hospital will become part of a new national network joining forces to address prolonged undiagnosed medical conditions, through the National Institutes of Health’s Undiagnosed Diseases Network.

It was established to help address the most rare and difficult-to-solve medical cases from around the country and develop effective approaches to diagnoses them. It will focus on undiagnosed diseases that are rarely seen and often unrecognized in both childhood and adult cases.

Image courtesy the National Institutes of Health.
Image courtesy the National Institutes of Health.

The network is modeled after a successful NIH pilot program that has enrolled people with intractable medical conditions from every state. For nearly six years the program has evaluated hundreds of patients and provided many diagnoses, often using genomic approaches, such as gene sequencing.

Dr. Brendan Lee, professor and interim chair of molecular and human genetics at Baylor, a Howard Hughes Medical Institute Investigator and founder and director of the Skeletal Dysplasia Clinic at Texas Children’s Hospital, will lead the Baylor/Texas Children’s study site, which will contribute its advanced resources and expertise in clinical genetics and genomics research.

Lee said in the last 30 years there have been significant strides made in molecular diagnosis of undiagnosed and rare diseases with the advancement of research and use of next generation genetic testing.

“We are able to make a diagnosis (identify a potential molecular DNA lesion) in approximately 25 to 30 percent of cases, whereas before it was less than 1 to 2 percent,” said Lee, also the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics.

Learn More

Read the announcement of the new network and NIH grant.

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