The Department of Human Genetics is comprised of four units: a genetic counseling clinic, cytogenetics, biochemical genetics and molecular genetics. Each of these units performs clinical services as well as research, in an attempt to better understand genetic disorders and develop accurate means for their diagnosis. The counseling clinic serves a wide range of patients who represent a reservoir of clinical material for the investigation of various genetic disorders, primarily those which are found in relatively high frequency in the various Israeli ethnic groups. In the cytogenetic laboratory, modern techniques are applied for a better delineation of chromosomal aberrations by in situ hybridization. This laboratory performs over 2500 prenatal diagnoses per year, as well as hundreds of diagnoses of patients of possible chromosomal abnormalities, bone marrow analysis for the diagnosis of blood malignancies. The biochemical genetic laboratory specializes in lysosomal storage disorders, and performs the diagnosis of hundreds of suspected patients and fetuses. Research in this unit focuses on the various aspects of lysosomal enzymes in normal cells and lysosomal storage disorders such as Mucolipidosis IV, metachromatic leukodystrophy and Hunter disease. The molecular genetic laboratory conducts studies and diagnoses on various common inherited disorders, namely cystic fibrosis, fragile X syndrome, neurofibromatosis and myotonic dystrophy.
Research areas include: Lysosomal storage diseases. Mutations in metabolic disorders. Function of the MLIV gene product. Enzyme-therapy. Genetic of cardio-vascular diseases. Genetic counseling. Preimplantation genetic diagnosis. Inherited diseases; analysis. Cancer genetics. Genomic imprinting.
Scientists & Research