Genetics in israel

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Head of the Genetic and Metabolic Diseases Department

If you know firsthand what orphan diseases are, if a child from the family of your relatives or friends suffers from it, contact the specialists of the Israeli Hadassah medical center: if there is a way to save your child, we will do our best.

Regarding diagnostics and treatment of orphan diseases, please contact
phone: +972 506 171 885 (Viber, WhatsApp)

The Genetic and Metabolic Diseases Department at Hadassah Ein Kerem Hospital offers a comprehensive, innovative examination in genetics and hereditary diseases. At the hospital you will be provided with an accurate genetic diagnosis, consultation with a specialist in genetic pathology, as well as the diagnosis and treatment of patients with metabolic diseases.

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Services of the Genetics Department include:

  • diagnostics of hereditary diseases in children and adults with subsequent consultation and prescription of a treatment plan for genetic diseases;
  • consultation for families and people preparing to get married;
  • examination for the presence of hereditary oncopathology (breast cancer, etc.) with the development of appropriate recommendations;
  • testing to detect a carrier of a hereditary disease in the general population or in specific ethnic groups.

In addition to the above, prenatal diagnostics is also carried out:

  • amniocentesis;
  • chorionic biopsy, i.e. examination of samples of its villi (CVS);
  • fetal blood sampling;
  • examination of pregnant women to identify patients at high risk of Down syndrome, etc. in the first trimester (measurement of the collar space (collar zone) and the necessary indicators in the mother’s blood) and in the second trimester (testing for alpha-fetoprotein and other markers in this biological fluid).
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About the advanced Genetic and Metabolic Diseases Department in Israel

The Genetic and Metabolic Diseases Department at Hadassah Ein Kerem integrates research activities with the work of the clinic and laboratories. Our units include a genetic consultation clinic and a number of specialized laboratories, such as: cytogenetic, molecular cytogenetic, tissue culture, biochemical and molecular genetics. Each of these departments performs medical services in combination with research, using the latest world technologies, in order to better understand genetic disorders and develop more reliable tools for their diagnostics. Particular attention is paid to hereditary diseases, which are commonly found among the Israeli population.

Genetic clinical consultations provided to a wide range of patients work hard to ensure correct diagnostics. Thus, they provide the best possible recommendations regarding risk assessment guidance for both women who are going to have a child and all family members. This is done in close cooperation with our multidisciplinary laboratories.

Each of the genetic consultations conducts joint work with other departments: oncogenetic, ophthalmological, maxillofacial, prenatal diagnostics and birth defects.

Our laboratories also specialize in prenatal diagnostics, amniocentesis, chorionic villus sampling, preimplantation genetic diagnostics (PGD) to exclude chromosomal aberrations or single gene defects, such as cystic fibrosis (mucoviscidosis), Tay-Sachs disease, etc.

Cytogenetic laboratories perform about 2000 prenatal (predelivery) diagnostic tests per year and several hundred cytogenetic diagnostics for patients with a referral from a genetic consultation clinic, a fertilization clinic or medical institutions located outside the hospital.

Fluorescence in situ hybridization is an integral part of the cytogenetic examination of our patients. In cooperation with the hematology, oncopediatrics, and bone marrow transplantation departments, we carry out cytogenetic analyzes of bone marrow cells in cancer patients, mainly suffering from leukemia and lymphoma.

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As part of prenatal diagnostics, we provide population screening of genetic diseases among various ethnic groups in Israel in the first and second trimesters (triple test). The new technique QF-PCR (quantitative fluorescent polymerase chain reaction) allows you to increase the spectrum and the number of diagnoses.

The biochemical laboratory is focused on lysosomal storage diseases and it is a national laboratory in this area. Studies carried out there are aimed at examination of lysosome storage disorders. It was in our laboratory that the gene responsible for type IV Mucolipidosis was recently identified.

The Molecular Genetic Laboratory is engaged in the study and molecular diagnostics of a wide range of diseases, namely:

  • cystic fibrosis,
  • myotonic dystrophy (Rossolimo – Kurshman – Steinert – Batten disease),
  • neurofibromatosis type 1 (Von Recklinghausen disease),
  • fragile X syndrome (Martin-Bell syndrome),
  • spinocerebellar ataxia,
  • Huntington’s disease,
  • breast and ovarian cancer that predispose to the presence of genes (BRCA1 and BRCA2 – from Breast Cancer),
  • retinoblastoma,
  • syndrome and disease of Charcot – Marie – Tooth (neural amyotrophy),
  • Prader-Wili syndrome,
  • Angelman syndrome (“happy puppet” syndrome),
  • Beckwith–Wiedemann syndrome,
  • uniparental disomy,
  • family dysautonomy,
  • Canavan disease (infantile spongy degeneration, spongy degeneration of the white matter of the brain, Canavan-van Bogart-Bertrand disease, spongy degeneration of the central nervous system),
  • glycogen storage disease type I (Girke’s disease) and others.

A distinctive feature of the Hadassah Ein Kerem hospital is a personal approach to each patient. Therefore, we will be happy to help you and answer all your questions.

Recovery stories of children with genetic diseases

For a patient from Ukraine Vanya Volokhatyuk, doctors could not make a diagnosis for 2 years. The patient was diagnosed with a rare and very dangerous disease – IPEX syndrome at the Hadassah hospital. The boy was saved thanks to a successful bone marrow transplantation (BMT).

Left photo: this is how Vanya looked before Professor Polina Stepenski performed BMT on him at the Hadassah Medical Center.

Right photo: Vanya after BMT with Esther Vinokurov, an employee of our medical department.

For reference:

  • According to various estimates, by 2017, from 1.5 to 5 million patients with rare diseases were registered in Russia.
  • In 2017, 1 billion hryvnias was allocated in Ukraine for the treatment of orphan diseases, and this amount was almost immediately recognized as insufficient.
  • Thousands of cases of orphan diseases have been registered in Belarus; according to estimates of the local press, from 6% to 8% of the population suffer from them.


Why did dozens of parents choose treatment of orphan diseases in Israel at the Hadassah clinic?

Questions and answers

Why should you choose treatment of rare diseases in Israel, and not in Europe or the United States?
Rescue of a child with a rare disease often requires promptness. Many CIS countries have signed an agreement with Israel on a visa-free regime. Not needing a visa saves a lot of time and allows you to start necessary treatment earlier
What are the advantages of diagnosing orphan diseases in Israel at the Hadassah clinic?
The Genetic Diagnostics Department of the Hadassah Clinic is one of the world leaders in the detection of rare genetic diseases. It contains the largest database in Israel and uses the most advanced equipment, such as the latest NovaSeq 6000 exome sequencing device. Over the past few years, the geneticists of the clinic have discovered more than 100 new gene mutations previously unknown to medicine.
What are the benefits of treating orphan diseases in Israel at the Hadassah clinic?
The main treatment for rare genetic diseases is bone marrow transplantation. The BMT department of the Hadassah clinic is a recognized leader in Israel in this field of medicine. By the end of 2019, more than 4,200 successful transplantations had been carried out here, of which 1,380 were for children. In 2018, for the success achieved the department became the first BMT center in Israel to receive full accreditation of the International Joint Committee JACIE. The Hadassah Clinic extensively cooperates with various foundations and charitable organizations that help finance treatment.
Which doctors will treat your child in Israel at the Hadassah clinic?
Unique specialists in the diagnostics and treatment of orphan diseases work at the hospital, such as: • Prof. Polina Stepensky, one of the world leading specialists in bone marrow transplantation, head of the BMT department. • Prof. Orly Elpeleg, Head of the Genetics Department and an internationally renowned scientist.
Where can I see reviews of orphan diseases treatment in Israel at the Hadassah clinic?
In the top menu of the official website of the Hadassah clinic in Russian, select the category "About the clinic", and then click on the item "Reviews". You will be taken to the page with patients` reviews and grateful letters. Some of them belong to the parents of children who were cured of orphan diseases at the clinic.



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