Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF).
She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems.
[1] She is a Senior Scientist Emeritus at SickKids Research Institute and a professor in the Department of Molecular Genetics at the University of Toronto.
[3] In 1986, she started post-doctoral training in the lab of Lap-Chee Tsui at the Hospital for Sick Children in Toronto, Canada (commonly referred to as SickKids).
This work was carried out when she was a postdoctoral fellow in the lab of Lap-Chee Tsui at the Hospital for Sick Children (SickKids) in Toronto, Canada, and was a collaboration between Tsui's lab, including fellow postdoctoral researcher Batsheva Kerem, and a team of researchers led by Francis Collins at the University of Michigan.
[1] The most common of the mutations they discovered introduced premature stop codons (PTCs) which led the patients to produce truncated versions of the SBDS protein.
[14] This gene was uncharacterized at the time, but Rommens' lab and others would go on to show that, among other potential functions, SBDS is involved in ribosomal maturation.