Head of Genetic Diagnosis and Research
Dept. of Genetics and Metabolic Diseases
Hadassah Medical Center, Jerusalem
Tel: 972-2-6777114
E-mail: avshag@hadassah.org.il
Education and Work Experience
1989 B.Sc. in Agronomy, The Faculty of Agriculture, The Hebrew University, Jerusalem.
1992 M.Sc. in Biotechnology with Honors, The Faculty of Medicine, The Hebrew University, Jerusalem. Mentor: Prof. Ariella Oppenheim. Subject: Molecular techniques for the diagnosis of -Thalasemia.
1998-2002 Ph.D. Student. Genetics Department – The Faculty of Medicine, The Hebrew University, Jerusalem. Subject:: Analysis of molecular mechanism in metabolic disease. Mentors: Prof. Orly Elpeleg and Prof. Ariella Oppenheim.
1992-2002 Head of genetic diagnosis and research at the Metabolic Unit, Shaare - Zedek Medical Center
2002-2005 Post-DocTrainee Division of Medical Genetics University of Washington Seattle WA. Mentor: Prof. Mary-Claire King
2005-present Head of genetic diagnosis and research at the Metabolic Unit, Hadassah Medical Center, Jerusalem.
Awards
Recipient of the Genetic Approches to Aging. Taining grant from the Nathan Shock Center of Excellence in Basic Biology.
List of Publications
Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet. 2005 Feb 15;14(4):555-63
Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, Hershkovitz E, Elpeleg O. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol. 2004 Nov;56(5):734-8.
Saada A, Shaag A, Elpeleg O. mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab. 2003 May;79(1):1-5.
Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C. N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Ann Neurol. 2002 Dec;52(6):845-9.
Ben-Shalom E, Kobayashi K, Shaag A, Yasuda T, Gao HZ, Saheki T, Bachmann C, Elpeleg O. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol Genet Metab. 2002 Nov;77(3):202-8.
Nevo Y, Soffer D, Kutai M, Zelnik N, Saada A, Jossiphov J, Messer G, Shaag A, Shahar E, Harel S, Elpeleg O. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion. J Child Neurol. 2002 Jul;17(7):499-504
Hurvitz H, Naveh Y, Shaag A, Shoseyov D, Klar A, Elpeleg ON. Transmission of the mitochondrial t8993c mutation in a new family. Am J Med Genet 2002 Sep 1;111(4):446-7
Saada A*, Shaag A*, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001 Nov;29(3):342-4
*These authors contributed equaly to this work.
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews. Am J Hum Genet 2001 Dec;69(6):1218-24
Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E, Hochner-Celnikier D, Berger I, Nadjari M. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet 2001 Aug 1;102
Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. Mol Genet Metab 2001 May;73(1):107-10
Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem Biophys Res Commun. 1999 Aug 19;262(1):163-6.
Elpeleg ON, Shaag A. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inherit Metab Dis. 1999 Jun;22(4):531-4.
Chowers I, Lerman-Sagie T, Elpeleg ON, Shaag A, Merin S. Cone and rod dysfunction in the NARP syndrome. Br J Ophthalmol. 1999 Feb;83(2):190-3.
Besley GT, Elpeleg ON, Shaag A, Manning NJ, Jakobs C, Walter JH. Prenatal diagnosis of Canavan disease--problems and dilemmas. J Inherit Metab Dis. 1999 May;22(3):263-6.
Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet. 1999 Jan 15;82(2):177-82.
Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence. Hum Mutat. 1997;10(3):256-7.
Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T). Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9.
Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, Halevy J. Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria. Muscle Nerve. 1997 Feb;20(2):238-40.
Anikster Y, Shaag A, Joseph A, Mandel H, Ben-Zeev B, Christensen E, Elpeleg ON. Glutaric aciduria type I in the Arab and Jewish communities in Israel. Am J Hum Genet. 1996 Nov;59(5):1012-8.
Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H, Nigro F, Pronicka E, Ribes A, Zabot MT, et al. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet. 1995 Sep;57(3):572-80.
Elpeleg ON, Anikster Y, Barash V, Branski D, Shaag A. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. Am J Hum Genet. 1994 Aug;55(2):287-8.
Filon D, Oron V, Krichevski S, Shaag A, Shaag Y, Warren TC, Goldfarb A, Shneor Y, Koren A, Aker M, et al. Diversity of beta-globin mutations in Israeli ethnic groups reflects
recent historic events. Am J Hum Genet. 1994 May;54(5):836-43.
Elpeleg ON, Shaag A, Anikster Y, Jakobs C. Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis. J Inherit Metab Dis. 1994;17(6):664-6.