Doctors have accurate diagnostic tests for some single-gene conditions, such as sickle cell disease or cystic fibrosis. But when it comes to understanding the genetic variants underlying most rare genetic conditions, there is still much to learn. This is where the Clinical Genome Resource Consortium (ClinGen) comes in.
This week, the NIH renewed three awards totaling $73.2 million over five years to continue building the Clinical Genome Resource, an effort to collect and archive information about clinically relevant genes and genomic variants - alterations in the DNA sequence of a particular gene - for use in precision medicine.
The ClinGen team at UNC-Chapel Hill, led by Jonathan Berg, MD, PhD, Bryson Distinguished Professor of Genetics and Medicine, was awarded a $24-million, five-year grant to scale biocuration and expert evaluation of genes and variants. The grant includes key contributors at the American College of Medical Genetics and Genomics (ACMG), ARUP Laboratories, Baylor College of Medicine, Georgetown University, Kaiser Foundation Research Institute (KFRI), Massachusetts Eye and Ear Infirmary, Mayo Clinic, the University of Miami, and RTI International.
