Karl Skorecki, MD

Molecular genetics and human disease

The Molecular Medicine Laboratory directed by Professor Karl Skorecki comprises a multidisciplinary research team, combining multiple approaches in human molecular genetics, population genetics, and stem cell biology, to investigate both common and rare human genetic diseases. One of the lead projects emanates from the population based discovery of genetic variants in the APOL1 gene, which account for a major component of the disparity in Chronic Kidney and Cardiovascular disease between Sub-Saharan African and other world populations. Based on this APOL1 discovery, in collaboration with the research teams of Rappaport Institute members Professors Adi Salzberg and Daniel Kornitzer, we are employing principles of evolutionary biology and model systems to uncover new insights into basic cell functions and also develop a platform for therapeutic drug discovery. Another ongoing project of Dr. Sara Selig, Hagar Katzir and students involves combining genome editing with stem cell technologies to understand epigenetic events in human health and disease. Additionally, the work of Dr. Maty Tzukerman, Yeela Shamai and students has led to novel insights regarding the specificity of recruitment of mesenchymal stem cells in tumorigenesis. Dr. Tali Shemer, laboratory manager, together with Dr. Ayala Ofir, Dr. Ira Bavli and Eid Zaknoun contribute to these projects, along with numerous other members of the research team and many collaborating scientists.

Representative publications

Kruzel-Davila E, Wasser WG, Aviram S, and Skorecki K. 2015. APOL1 nephropathy: from gene to mechanisms of kidney injury. Nephrol. Dial. Transplant. pii: gfu391.

Sagie S, Ellran E, Katzir H, Shaked R, Yehezkel S, Laevsky I, Ghanayim A, Geiger D, Tzukerman M, and Selig S. 2014. Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome. Hum. Mol. Genet. 23, 3629-3640.

Freedman BI and Skorecki K. Gene-gene and gene-environment interactions in APOL1-associated nephropathy. 2014. Clin. J. Am. Soc. Nephrol. 9, 2006-2013.

Skorecki K, Behar DM. North Africans traveling North. Proc. Natl. Acad. Sci. USA   110, 11668-11669.

Abelson S, Shamay Y, Berger L, Skorecki K, and Tzukerman M. 2012. Intratumoral heterogeneity in the self-renewal and tumorigenic differentiation of ovarian cancer. Stem Cells 30, 415-424.

Figure legend:

Effect of conditional media from human vascular smooth cells transduced with non-risk and risk variants of APOL1 and human podocytes.
Augmented disruption of lysosomal integrity is seen in podocytes exposed to conditioned media from vascular smooth cells transfected with the kidney disease risk variants (G1 and G2) of the human APOL1 gene. (from: Lan X. et al. Exp Mol Pathol. 98(3):491-501, 2015).