04/25/2026
What was geneticist Francis Collins, M.D., Ph.D., like in the 90s?
He was literally hunting for needles in haystacks, trying to find disease-related genes in the vast expanse of DNA known as the human genome.
In this photo from 1991, when he was on our University of Michigan Medical School Genetics faculty, he was showing just how big a deal it was that his team, and their Canadian counterparts led by Lap-Chee Tsui, Ph.D. of The Hospital for Sick Children - SickKids in Toronto, had found the genetic variation responsible for most cases of .
It was the first time a disease-related genetic mutation had been found using the technique they had developed, called positional cloning.
And it accelerated the hunt for many more disease-related genes, and the sequencing of the entire human genome. Dr. Collins went on to lead National Human Genome Research Institute and then all of National Institutes of Health (NIH).
Meanwhile, the Cystic Fibrosis Foundation led the way in using the CF gene discovery to fuel more research. That led to genetic tests and eventually the basis for treatments called CFTR modulator therapies that are giving people with CF the chance at much longer lives.
Today, the needle that Dr. Collins & his colleagues found in that haystack is helping patients in our adult and pediatric CF clinics at C.S. Mott Children's Hospital.
And genetic information on many diseases is used to guide diagnosis and treatment. In some cases, cells engineered to contain certain genes are the treatment itself.
On this , read more about this milestone, and all that came after it: https://michmed.org/MD3GP
Photo from Bentley Historical Library