HUMAN GENETICS

Prof. Orly Elpeleg

Head Department of Genetics

and Metabolic Diseases

Hadassah University Hospital, Jerusalem, Israel

Tel: 972-2-67 79197

Cell Phone: 050 4048765

Fax: 972-2- 67 77499

E-mail: judithme@hadassah.org.il

j.melki@genopole.inserm.fr

 

 

STAFF

 

Professor Emeritus

Cohen, T., M.D

Bach, G., Ph.D., former Head of Department)

 

Professors

Prof. Orly Elpeleg, Head of Department

Abeliovich, D., PhD

Meiner, V., M.D

 

Senior Lecturers

Raas-Rothschild, A., M.D

 

Lecturer

Sagi, M., Ph.D

 

Physician Participating in Teaching

Ben-Neriah, Z., M.D

 

Teaching Fellow

Frumkin, A., Ph.D

 

Research Associate

Zeigler, M., Ph.D

 

INTRODUCTION

 

The Department of Human Genetics integrates clinical and laboratory work with research. We have a Genetic Counseling Clinic and laboratories specialized in various areas: cytogenetic and molecular cytogenetic, tissue culture, biochemical genetics and molecular genetics. Each of these units perform clinical services as well as research activities, in an attempt to better understand genetic disorders and develop accurate means for their diagnosis. Special emphasis is placed on inherited diseases that are common in the Israeli population, Jewish and Arab alike.

 

The genetic counseling clinics, which serve a wide range of patients, strive  to reach an accurate diagnosis to allow for better counseling as to future pregnancies and risk assessment to all family members; this is done in close collaboration with the various laboratories.

 

In the frame of the Genetic Counseling Clinics, specialized clinics operate in collaboration with other disciplines, such as the Onco-Genetic Clinics, Ophthalmology Genetics, Craniofacial Genetics, Birth Defects and Prenatal Diagnosis Clinic.

 

In the laboratories' section, in addition to clinical diagnosis, the two main activities are prenatal diagnosis, amniocentesis, chorionic villi sampling and preimplantation genetic diagnosis (PGD) for either chromosomal aberrations or single gene defects such as Cystic Fibrosis, Tay Sachs etc. The Cytogenetic Laboratory performs about 2,000 prenatal diagnosis tests per year , hundreds of cytogenetic diagnoses of patients that are referred from the Genetic Counseling Clinic, Fertility Clinic and outside. Fluorescence in-situ hybridization is an integral part of the cytogenetic work-up of patients. In collaboration with Hematology, Bone Marrow Transplantation and Oncopediatric departments, we perform cytogenetic analyses in bone marrow cells of cancer patients, mainly leukemia and lymphoma. As part of the prenatal diagnosis, we also perform population screening for the common genetic diseases among the various ethnic groups in Israel and first and second trimester tests (triple test).  A new technique QF – PCR enables us to increase the spectrum and number of diagnoses.

 

The Biochemical Laboratory specializes in lysosomal storage diseases and is a national referral laboratory. Research in this laboratory focuses on lysosomal storage disorders. Recently, the gene for mucolipidosis type IV was identified in our laboratory.

 

The Molecular Genetic Laboratory is involved in the molecular diagnosis of a wide range of diseases, including cystic fibrosis, myotonic dystrophy, neurofibromatosis 1, fragile X syndrome, X-linked mental retardation, deafness, spinocerebellar atexia, Huntington disease, breast & ovarian cancer predisposing genes (BRCA1 & BRCA2), Retinoblastoma, Charcot-Marie-Tooth disease, Prader-Willi and Angelman syndromes; Beckwith-Wiedemann syndrome, uniparental disomy, familial dysautonomia, canavan disease, glycogen storage I diseases and others.

 

RESEARCH AREAS

 

§         Lysosomal storage diseases, (Bach, Zeigler, Frumkin, Raas-Rothschild

 

§         Mutations in metabolic disorders, (Bach, Zeigler)

 

§         Function of the MLIV gene product, (Bach, Frumkin)

 

§         Enzyme-therapy, (Bach, Raas-Rothschild)

 

§         Genetic of cardio-vascular diseases, (Meiner)

 

§         Genetic counseling, (Sagi)

 

§         Preimplantation genetic diagnosis, (Abeliovich)

 

§         Inherited diseases; analysis, (Abeliovich)

 

§         Cancer genetics, (Abeliovich, Sagi)

 

§         Genomic imprinting, (Abeliovich)

 

 

                         

Genetics