Division for genetics and metabolic diseases

About Us
The Department of Genetics and Metabolic Diseases integrates clinical and laboratory work with research. Among our units are the Genetic Counseling Clinic and a number of topic-specific laboratories such as our cytogenetic and molecular cytogenetic laboratory, tissue culture laboratory, biochemical genetics laboratory and molecular genetics laboratory. Each of these units perform clinical services in addition to research, in an attempt to better understand genetic disorders and develop accurate means for their diagnosis. Special emphasis is placed on inherited diseases that are commonly found among the Israeli population.

The genetic counseling clinics, serving a broad spectrum of patients, works hard to provide an accurate diagnosis, allowing the best possible counseling as to future pregnancies and risk assessment to all family members; this is done in close collaboration with our various laboratories.

Each of our genetic counseling clinics operate in collaboration with other laboratories and clinics, such as the Onco-Genetic Clinics, Ophthalmology Genetics, Craniofacial Genetics, Birth Defects and Prenatal Diagnosis Clinic.

In addition to providing clinical diagnosis, our laboratories also focus on 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, and a few hundred cytogenetic diagnoses for patients referred from the Genetic Counseling Clinic, Fertility Clinic or outside the hospital. Fluorescence in-situ hybridization is an integral part of the cytogenetic work-up of our patients.

In collaboration with the Hematology, Bone Marrow Transplantation and Oncopediatric departments, we perform cytogenetic analyses in bone marrow cells in cancer patients, mostly those suffering from 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 along with 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 focuses on lysosomal storage diseases and is a national referral laboratory. Research in this laboratory focuses on lysosomal storage disorders. Our laboratory recently identified the gene responsible for mucolipidosis type IV.

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.

Reasearch Areas

STAFF
Professors:
Prof. Orly Elpeleg, Head of Department
Meiner, Vardiella, M.D
Professor Emeritus
Cohen, T., M.D
Bach, G., Ph.D., former Head of Department
Teaching Fellow
Frumkin, A., Ph.D