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Division of Internal Medicine
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Home Page > Division of Internal Medicine > Genetics - Institute
Genetics - Institute
Director Dr. Avi Orr-Urtreger


Main description
The Genetic Institute in the Tel Aviv Medical Center is comprised of outpatient clinics in genetics, multidisciplinary clinics, consultation services and laboratories. About 7-8 thousand people are being referred each year for the following services:
  • Clinical genetic work-up of children with birth defects and late or delayed physical or mental development, and genetic consultation for their parents.
  • Genetic consultation for families with hereditary diseases.
  • Pre-pregnancy and prenatal consultation and diagnosis of abnormal pregnancies, fetal defects and prevention of known genetic disorders.
  • Genetic consultation for repeated, spontaneous abortions and infertility.
  • Genetic consultation and diagnosis for hereditarily susceptibility for cancers, such as breast, ovary, colon and prostate, and other familial cancers or genetic syndromes that include cancer.
  • The multidisciplinary clinics include:
    1. The Clinic for Familial Cancer - in coordination with the Gastroenterology Institute,
    2. The Cleft Lip and Palate Team - in coordination with the Department of Plastic Surgery and the Pediatric Dental Clinic.
    3. Genetic Diagnosis for Pediatric (and adult) Muscular Dystrophy and Spino-Muscular Atrophy - in coordination with Pediatric Neurology.


The staff of the Genetic Institute offers consultation services to other departments in the Tel Aviv Sourasky Medical Center:
  • Consultation to the Neonatal and Pre-term Department.
  • Consultation to the Obstetric and Delivery Department.
  • Consultation to Pediatrics, Pediatric Surgery and Pediatric Orthopedics during hospitalization.
  • Consultation to other departments (such as Neurology and Internal Medicine.


The institute operates three diagnostic genetic laboratories:
  • Molecular Laboratory that performs screening tests for many common genetic diseases: muscular dystrophies, SMA, cancer of breast, ovary, colon and prostate, Rett Syndrome, and prenatal molecular diagnosis of the genetic disorders above and others. In addition to routine molecular techniques, the laboratory operates ABI 310 Sequencers and a Transgenomic Wave dHPLC.
  • Cytogenetic Laboratory that performs cytogenetic analyses of Amniocentesis and CVS samples, blood and fibroblast samples, and tumor tissues from multiple origins, such as kidney, bone and soft tissue, head and neck and hematological malignancy. In addition to routine cytogenetic techniques, the laboratory offers high resolution karyotype analysis, FISH and SKY tests.
  • Biochemical Laboratory that performs 1st and 2nd trimester screenings during pregnancy.


    Research:
    The Genetic Institute is deeply involved with basic science and clinical genetics research. Multiple clinical genetic studies were published in recent years in the fields of prenatal diagnosis, cancer genetics and hereditary and familial disorders.
    The R&D laboratory focuses on genotyping of human tumors, with specific emphasis on bone and soft tissue tumors and prostate cancer (). In order to identify new genes and pathways involved in tumorigenesis, the lab is looking for novel quantitative (amplifications, deletions and duplication) and expression alterations in tumors, using Spectral Karyotyping, array-based CGH and expression microarrays. We also screen patient and tumor samples to identify new mutations and single nucleotide polymorphisms (SNPs), using dHPLC, in genes that may be associated with increased risk for cancer in the general population ( RNASEL ).
    The lab also conducts research on animal models with deficiency in neuronal nicotinic acetylcholine receptor genes in order to study their function in the central and peripheral nervous system ().

    medical staff
    Yuval Yaron, MD, Director, Prenatal Genetic Diagnostic Unit.
    Ruth Shomrat, PhD, Director, Genetic Laboratory.
    Yaffa Nevo, PhD, Assistant Director, Cytogenetic Laboratory.
    Anat Bar-Shira, PhD, Director, Research and Development Laboratory.
    Shai Ben-Shahar, Eli, Genetic Consultant
    Dalit Barel, PhD, Clinical Geneticist
    Dalia Eli, PhD, Genetic Consultant


    Location
    Sourasky Building, first floor, wing ”F”

    appointments
    972-3-6974704/4905


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