Batsheva Kerem (Hebrew: בת-שבע כרם; born 1955) is an Israeli geneticist who was on the research team that identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF).
[2] She researches how some CF mutations prevent CFTR protein production by causing nonsense-mediated decay and abnormal mRNA splicing, and how therapies might be able to counteract those problems.
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 Johanna Rommens, and a team of researchers led by Francis Collins at the University of Michigan.
[2] She became intrigued so, when she moved back to Israel in September 1990, she collected blood from most Israeli CF patients and searched their CFTR genes for mutations.
[7] This early stop signal, a premature termination codon (PTC), caused the production of truncated, dysfunctional CFTR protein.
[2] Much of Kerem's later contributions to cystic fibrosis research involves studying defects in the production of CFTR caused by premature termination and improper RNA splicing.
[8] In addition to identifying and classifying the wide spectrum of CFTR mutations, Kerem studies how therapies might be able to counteract the problems present among the various classes.
[1] She has investigated genome instability and made significant contributions to knowledge of the involvement of frequent fragile sites in cancer.
[12] The reason Batsheva chose a postdoctoral fellowship in Tsui's lab at SickKids was in part because she and Eitan were looking for job opportunities where they would be able to work nearby one another.