Baylor Receives NIH Funding for Center to Model Rare Genetic Diseases

Rare Daily Staff

The National Institutes of Health has awarded Baylor College of Medicine a five-year, $9.9 million grant for its new Center for Precision Medicine Models to study rare genetic diseases.

The center will use precision animal models of a patient’s or group of patients’ specific genetic variation and study why the change causes disease and how the disease can be treated.

Clinical exome sequencing and whole genome sequencing have led to major advances in diagnosing patients with suspected genetic disease. However, the clinical significance of those genetic variants often remains unclear. As there are a proliferation in the identification of pathogenic genetic variants, it has created what Baylor called an “interpretation bottleneck.”

“Our center is connecting the dots between discovery of a change in your genetics and how to treat the associated disease,” said Jason Heaney, lead principal Investigator of the center and associate professor of molecular and human genetics at Baylor. “We may be able to find therapies or lifestyle interventions that can help people manage their disease and improve quality of life.”

The center will take nominations for genetic variants to model from patients, patient groups, clinicians, researchers, and NIH-funded consortiums like the Undiagnosed Diseases Network and the Centers for Mendelian Genomics. An accepted disease-causing genetic variant must previously be identified to be considered for modeling.

After a case is submitted, the center’s clinical and bioinformatics teams will independently assess the genetic variant for likelihood of causing disease. Next, the modeling team will decide if a precision model organism can be produced for that genetic change and whether appropriate resources are available within the center to study the disease. A final decision about whether to select the case will be made based on likely clinical benefit to the patient.

“Everything that we plan to do has the overall goal of benefitting the individual with a rare disease in the clinic,” Heaney said. “If we can find a therapeutic that makes a tremendous payoff for even just one patient, we will do it.”

Photo: Jason Heaney, lead principal Investigator of the center and associate professor of molecular and human genetics at Baylor