Batsheva Kerem

Batsheva Kerem (; 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). She later established the Israel National Center for CF Genetic Research. Her Ph.D work was supervised by Menashe Marcus and Howard Cedar. She did a brief post doctoral fellowship with Tamar Schaap in the Department of Genetics at Jerusalem's Hadassah Medical School, from 1986 to 1987. She established the National Genomic Knowledge Center at Hebrew University's Institute of Life Sciences and served as its chair from 2000-2014. Kerem helped identify the globally most common CFTR mutation, F508del, a deletion of the 508th amino acid (protein letter) in the CFTR protein, which is normally a phenylalanine (abbreviated F). This early stop signal, a premature termination codon (PTC), caused the production of truncated, dysfunctional CFTR protein. She published this finding in 1992 and in 1997, Israel's government introduced population carrier screening for it.

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. In order to make a protein, a cell first makes RNA copies of the DNA gene for that protein. These RNA copies contain regulatory regions called introns which are removed in a process called RNA splicing in order to produce mature messenger RNAs (mRNAs) which are used by the cell's protein-making machinery (ribosomes and helpers) to make the corresponding protein in a process called translation. Certain CF-causing mutations, instead of affecting the CFTR protein's shape and functioning, affect how the messenger RNA (mRNA) copies of the genetic recipe for CFTR are processed, thus preventing CFTR protein from being made.

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. For example, Kerem researches how pharmaceutical compounds that promote read-through of these stop codons might be able to counteract problems caused by premature termination codon (PTC) mutations such as the W1282X she discovered was common among Ashkenazi Jewish patients.

In the late 1990s she began studying chromosome structure and function. They have carried out collaborative research together, including the development of potential therapeutics. 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.

Honors

Julodan Prize for Contribution to Medicine (1993) Teva Prize for Excellence in Human Genome Research (1993) Joels Senior Lectureship for Excellence in Science (1996) Abisch-Frenkel Prize for Excellence in Life Sciences (2004) EMET Prize Laureate – Life Sciences: Genetics (2008)

Key publications