Baylor College of Medicine and Stanford University received an award for more than $25 million over five years from the National Institutes of Health to continue building the Clinical Genome (ClinGen) Resource, an effort to create expert curated knowledge about clinically relevant genes and genomic variants for use in precision medicine. The award is one of three NIH grants totaling $73.2 million over five years for the project.
The National Human Genome Research Institute established the ClinGen consortium in 2013 to fill the need for organized information about which genes and genomic variants are relevant to human disease. The consortium works to identify which genes are associated with disease and which variants in those genes are disease-causing. Then, they work to standardize the way researchers and clinicians share this information for broad use. A multidisciplinary team from Baylor and Stanford has led one of the consortium awards since 2013 and is now working on phase 3 of the project.
The work at Baylor focuses on developing software infrastructure and computational approaches to enable researchers to scale up the current work, expand the number of genes in the resource and facilitate integration into healthcare delivery. This award will also fund research into cancer disease genes and expanding the use of ancestry and diversity in genetic research.
“Supporting ClinGen’s international teams of experts in cancer genetics has been very rewarding. Through this work we help to minimize uncertainty in genetic test results so that patients at increased of cancer can get the guidance they need,” said Dr. Sharon Plon, co-principal investigator of the Baylor ClinGen project and professor of molecular and human genetics and pediatrics – hematology and oncology at Baylor.
“The Bioinformatics Research Laboratory (BRL) at Baylor will work closely with our ClinGen collaborators to develop the key software tools for evidence-based knowledge curation and a computational infrastructure that will serve as the center of an emerging ecosystem of FAIR (Findable, Accessible, Interoperable, Reusable) knowledge for both machines and humans,” said Dr. Aleksandar Milosavljevic, co-principal investigator of the Baylor ClinGen project, BRL director, and Henry and Emma Meyer Professor in Molecular Genetics at Baylor.
Dr. Teri Klein is the co-principal investigator from Stanford University of the ClinGen project.
Plon holds the Dan L Duncan Comprehensive Cancer Center Professorship at Baylor. She also is co-leader of the pediatrics cancer program at the Duncan Cancer Center and director of the Cancer Genetics and Genomics Program at Texas Children’s Hospital. Milosavljevic is director of the Program in Quantitative and Computational Biosciences, co-director of the Computational and Integrative Biomedical Research Center and member of the Dan L Duncan Comprehensive Cancer Center at Baylor.
The National Human Genome Research Institute will provide the majority of the funding for the awards. The National Cancer Institute will provide co-funding to support ClinGen’s cancer-related activities. The Baylor award is supported by the National Human Genome Research Institute of the National Institutes of Health grant U24HG009649.