The research of the clinical section of the Department of Human Genetics is directed towards the identification of newly recognized genetic disorders and the further delineation of previously described conditions. A focus of our research has been on the group of lysosomal disorders found among Jews of Ashkenazi descent or so-called "Jewish genetic diseases" which include Tay-Sachs diseases, Gaucher disease and Niemann-Pick disease. Another lysosomal disease, Fabry disease is also a major research interest.\r\n\r\n
Sheen VL, Walsh CA, Chen MH, Parrini E, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Berkovich J, Anermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Jansen A. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology 2005 January; 64(2): 254-262.
Shin HT, Paller A, Orlow SJ, Willner JP, Chang MW, Hoganson G. Infantile systemic hyalinosis. J Am Acad Dermatol 2004 Feb; 50(2Suppl): 61-64.
Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Griffith AJ, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Avraham KB. Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003; 40(10): 762-772.
Ahmed Z, Avraham KB, Bar-Lev A, Ben-Yosef T, Desnick RJ, Friedman TB, Wolfman JH, Madeo AC, Ness S, Oddoux C, Ostrer H, Willner J, Griffith AJ. A prevalent founder mutation of PCDH15 among deaf-blind Ashkenazi Jews with Usher syndrome type 1. New. Eng. J. Med 2003 April; 348(17): 1664-1670.
Tegay DH, Willner JP, Tepper R. 6-mercaptopurine teratogenicity. Postgrad Med J 2002 September; 78(923): 572.