The roots of the Danek Gertner Institute of Human Genetics, officially founded in the early 1970's, lay in the pioneering work and spirit of Prof. Padeh, the founder of the Sheba Medical Center over fifty years ago. Over the years, physicians and scientists from numerous specialties have conducted studies on genetic diseases, especially those predominant in Jewish populations of various ethnic origins, such as Familial Mediterranean Fever, Tay Sachs Disease and G6PD Deficiency. These clinical and research activities serve as the foundation of the Danek Gertner Institute of Human Genetics.
Our primary goal at the Danek Gertner Institute of Human Genetics is to provide superior, cutting edge medical care. We do this by coupling scientific research and development with clinical activities.
We provide genetic counseling and clinical diagnoses through our close cooperation between our staff of highly qualified genetic counselors and clinical laboratory personnel.
Our pre-marital counseling is geared at identifying potential risks for genetic disease and defining options for prevention and/or treatment of future offspring.
Pre-natal counseling is offered to expectant couples, either self-referred, or referred by other entities, such as the OB/GYN Department, Neonatal Department, the Ultra-Sound Unit at Sheba Medical Center, public health clinics, etc.
Referred patients with suspected or diagnosed genetic conditions are evaluated through clinical examination and genetic testing, after which appropriate counseling including recommendations for follow-up care, testing of additional family members, and options for prenatal diagnosis.
We provide genetic testing for numerous genetic conditions, geared at both diagnosis of affected individuals, pregnancies and carrier detection.
Our laboratory is divided into sub-groups, each focused on a different area of genetic testing, but always working in close cooperation with the groups. The array of genetic tests we offer include: Cytogenetic testing providing prenatal and patient chromosome analysis (from Amniocentesis and chorionic villous samples or blood Lymphocytes, with a total of over 2,000 tests per year).
Pregnancies at-risk for chromosomal Aneuploidy, mainly Trisomy 21 are detected through maternal serum biochemical marker tests in both the first and second trimesters of pregnancy.
A broad spectrum of biochemical and molecular testing is carried out at both the carrier detection and prenatal diagnosis levels for metabolic diseases, such as Tay-Sachs (29,000 tests a year) as well as molecular testing for Fragile -X Syndrome, Bloom Syndrome, Fanconi Anemia, Canavan Disease, Cystic Fibrosis, Familial Disautonomia, ML-4, Niemman-Pick, Gaucher Type I and Ataxia Telangiectasia (21,000 tests a year) and pre-symptomatic testing for Breast Cancer genes (BRCA).
In addition, in 1994 we established a molecular cytogenetics facility in which in-situ Fluorescent Hybridization techniques ("FISH") enable expedited chromosome analysis (within 24 hours, where indicated).
Preimplantation genetic disorder (PGD) is also carried out where indicated. This technology enables identification of embryos containing a normal compliment of chromosomes, before implantation with IVF technology.
The Institute is affiliated with Tel Aviv University's Sackler School of Medicine. Many of our senior staff members are faculty members in the Departments of Human Genetics, Pediatrics, Internal Medicine and Obstetrics and Gynecology.
Graduate students from the M.Sc. and Ph.D. program of the Medical School are engaged in research projects for their respective theses under the supervision of our staff scientists.
| Institute at a Glance |
Number of Outpatient Visits per Year - 23000
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| Director - Prof. Elon Pras |
| Address - The Danek Gertner Institute of Human Genetics |
| E-mail - Alon.Peress@sheba.health.gov.il |
| Tel - 972-3-530-3963 | |
