Center for Precision Medicine Models receives $10…

Baylor College of Medicine's Center for Precision Medicine Models has received a five-year, $10 million grant from the National Institutes of Health to continue its work using precision models to study rare genetic diseases.

The center creates customized cell, fly and mouse models that mimic specific genetic variations found in patients. These models help scientists understand how genetic changes cause disease and explore potential treatments, offering hope to families affected by rare conditions. With this new round of funding, the center will continue to build on the strong partnerships and resources at Baylor College of Medicine, bringing together experts in rare disease research, animal modeling and bioinformatics to drive discovery and improve patient outcomes.

"The Department of Molecular and Human Genetics is uniquely equipped to bring together the diverse expertise needed to connect clinical human genetics, animal research and advanced bioinformatics tools. This integration allows us to drive personalized medicine forward using precision animal models and to turn those discoveries into better care for patients," said Dr. Jason Heaney, associate professor in the Department of Molecular and Human Genetics and lead principal investigator of the center.

The center hosts an online portal that allows physicians, families and advocacy groups to nominate genetic variants or rare diseases that need further investigation or development of new treatments. Each submission is reviewed collaboratively by center experts for the feasibility of modeling and the potential clinical impact of the proposed precision models. In some cases, the team solves the case during the review process. In others, they accept the variant for further research in the center or refer the nominator to other expert labs across the country. Since the center's launch with NIH funding in 2020, researchers have received 156 nominations, accepting 63 for modeling and producing more than 200 precision models.

"The center's success demonstrates the benefit of interdisciplinary collaboration to resolve variants of uncertain significance and develop therapies for rare disease," said Dr. Lindsay Burrage, associate professor in the Department of Molecular and Human Genetics and a principal investigator of the center.

The center's models have contributed to the discovery of several new rare disease genes and new symptoms caused by known disease genes. With renewed funding, researchers will continue their work, enhance bioinformatic tools and broaden the center's scope to include modeling of complex diseases.

Drs. Aleksandar Milosavljevic and Shinya Yamamoto also are co-principal investigators at the center. Other Baylor faculty members affiliated with the center include Drs. Hugo Bellen, Michael Wangler, Oguz Kanca, Denise Lanza, Audry Christinsen, Chih-Wei Logan Hsu, Pengfei Liu, Seema Lalani, Sandesh Nagamani, Matthew Roth, and Uma Rammamurthy and Jill Mokry.

This center is funded by National Institutes of Health Grant (U54 OD030165). Learn more about the center and how to submit a nomination for precision modeling here.