The 2005 ASCI Award: Francis S. Collins, MD, PhD

Francis S. Collins, MD, PhD, received the 2005 ASCI Award for his pioneering efforts in the development of the entire field of human genome research. The identification in 1989 of the gene responsible for cystic fibrosis by Dr. Collins and his colleagues was the first successful application of positional cloning to a human disease, without the aid of chromosomal rearrangements or deletions. His laboratory was also responsible for the positional cloning of the Neurofibromatosis type 1 gene in 1990, followed by a number of other key human disease gene discoveries, including identification of the CBFbeta/myosin heavy chain fusion in inv16 AML and positional cloning of the genes for Huntington Disease, Ataxia Telangiectasia, MEN1, Alagille Syndrome, and, most recently, the gene responsible for Progeria. His laboratory has also provided critical insights into molecular pathophysiology for a number of these genetic diseases, most notably for Cystic Fibrosis, NF1, and MEN1. Dr. Collins’ most recent research efforts have focused on the complex genetics of type 2 diabetes. In addition to these extraordinary individual laboratory contributions, Dr. Collins has been the leader of the human genome project for the past decade, culminating recently in the completion of the human and mouse genome sequences. He is uniformly recognized in scientific and public-policy forums as the major spokesman for the entire field of genomic research.