Professor Skorecki’s research group focuses on the regulation of specific genes, which are restricted in expression to specific differentiated cell types in the kidney, in normal and disease states. These genes encode channels and transporters, which govern movement and balance of sodium, potassium, chloride, electrolytes and water in the kidney. In addition, our laboratory is studying epigenetic effects related to telomere regulation and allelic inactivation in hereditary disease and cancer.

• What are the roles and mechanisms of observed perturbations in the separation of chromosome ends (telomeres) in the replicative arrest and genomic instability associated with aging in health and disease?
• How are the "immortality enzyme", telomerase, and cell cycle cycle regulators, modulated during human embryonic stem cell differentiation?
• Can human embryonic stem cells be used to develop a novel experimental platform for studying the stromal reaction and influence of the microenvironment on tumorigenesis responses and for pre-clinical testing of anti-cancer therapies?
• How does large-scale analysis of DNA sequence variation at the mtDNA and Y-chromosome loci influence our understanding of population history and impact upon patterns of genetic disease in populations and communities of the Near East?
• Can the genetic analysis of rare disease in specific kindreds and families in northern Israel shed light on mechanisms of more common disease?
• How can population admixture be used to facilitate the mapping of genetic loci contributing to enhanced susceptibility to common diseases?
• Can the principles of population genetics be applied to individual cells to promote our understanding of development, differentiation and tumorigenesis?

These multidisciplinary research projects involve a dedicated research team and extensive intra- and inter-institutional collaboration with other centers in Israel and around the world.

Quantitive in situ SA Beta Gal (QBGAL Ver 1.0)

Preliminary Report: Missense mutations in the APOL gene family are associated with end stage kidney disease risk previously attributed to the MYH9 gene (June 2010).

Shay Tzur, Saharon Rosset, Revital Shemer, Guennady Yudkovsky, Sara Selig, Ayele Tarekegn, Endashaw Bekele, Neil Bradman, Walter G Wasser, Doron M Behar, Karl Skorecki

• Interactive Course in Nephrology Year IV
• Clinical elective rotation in Nephrology at Rambam