30 years ago, the Huntington’s Disease Collaborative Research Group identified the Huntington’s disease (HD) mutant gene. By examining 75 disease families, they found a trinucleotide (CAG) repeat that is expanded and unstable on chromosome 4.
The Group published their work in Cell on March 26, 1993 and is an exceptional milestone that gave visibility to the wonderful breakthroughs that HD scientists from around the world accomplished. Dr. Leslie Thompson, UC Irvine Donald Bren and Chancellor’s Professor and lead investigator of the HD Thompson Lab, was part of this incredible consortium and continues to be a world renowned scientist pushing forward the field of HD research.
Check out Dr. Thompson, her lab and the research at https://faculty.sites.uci.edu/thompsonlab/
Reference: Group, H.C., A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 1993. 72(6): p. 971-983. 8458085.