Baylor College of Medicine News

Baylor, Texas Children’s join national collaboration to solve most difficult, rare medical cases

Dr. Brendan Lee will lead the Baylor/Texas Children's study site.

Baylor College of Medicine and Texas Children’s Hospital will become part of a new national network of clinicians and scientists joining forces to address prolonged undiagnosed medical conditions as part of a newly awarded $7.3 million, four-year National Institutes of Health grant.

The grant to Baylor and Texas Children’s Hospital is one of six awarded today as part of the NIH’s Undiagnosed Diseases Network.

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

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.

The program is a collaborative effort between the Departments of Molecular and Human Genetics, Pediatrics, Medicine, and Neurology at Baylor. Co-leaders of the program include Dr. Carlos Bacino, professor of molecular and human genetics, Dr. Jordan Orange, professor of pediatrics, Dr. Gary Clark, professor of pediatrics and neurology, Dr. Ashok Balasubramanyam, professor of medicine, and Dr. Paolo Moretti, assistant professor of neurology, all of Baylor. 

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

“In the last 30 years, we have made significant strides in molecular diagnosis of undiagnosed and rare diseases with the advancement of research and implementation 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 at Baylor and co-director of the Rolanette and Berdon Lawrence Bone Disease Program of Texas. “Baylor and Texas Children’s Hospital have been pioneers in this effort and have robust research and clinical programs focused on improving this field.”

“Newly developed methods for genome sequencing now provide us amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions,” said Dr. Eric D. Green, director of the National Human Genome Research Institute. “Along with robust clinical evaluations, genomics will play a central role in the UDN’s mission.”

The network will address both childhood and adult cases.

Other institutions with Undiagnosed Disease Network clinical sites that are a part of the network include:  the National Institutes of Health in Bethesda, MD; Harvard Teaching Hospitals in Boston; Duke University in Durham, N.C.; Stanford University, in Palo Alto, Calif.; The University of California in Los Angeles and Vanderbilt University Medical Center in Nashville, Tenn.

Instructions on applying to the Undiagnosed Diseases Network on behalf of a patient can be found online.

Local patients interested in participating in this study should contact Mary Mullins at 832-822-4263 or mullins@bcm.edu