The IVF unit in cooperation with the genetic institute:

Dr. Mira Malcov and Ms. Tzvia Frumkin Cohen - IVF unit.

Prof Yuval Yaron - the Genetic Institute.

Monogenetic diseases diagnosis - Dr. Mira Malkov. Tel: 03-6915661.

Chromosomal aberration and translocation diagnosis - Ms. Zvia Frumkin Cohen. Tel: 03-6973123.

A new technique for preimplantation genetic diagnosis allows genetic analysis on embryos before pregnancy actually begins. The impressive technological advances in genetic diagnosis, as well as the development of micromanipulation techniques, allow us to perform genetic analysis on an eight-cell embryo before its implantation in the uterus. This technique is called PGD.

PGD is appropriate for couples who are carriers of hereditary genetic diseases and whose risk of conceiving a sick child is high without PGD. In order to ensure a healthy child, we perform IVF. Three days after fertilization when the embryos are 6-10 cells we perform genetic analysis on one of the cells in each embryo to determine if it is healthy; healthy embryos may be transferred into the patient's uterus whereas embryos carrying the genetic disease are discarded. Since all the embryonic cells are identical at this stage, and carries the same genetic potential, each cell is representative of the entire embryo. An embryo at the eight-cell stage is capable of "rehabilitating" itself, and continues to divide and develop normally after losing a cell or two for analysis.

The sampling of a cell from the embryo for analysis is achieved by micromanipulation, using laser equipment, and requires a high level of skill. The analysis is performed in an isolated, sterile room built expressly for this purpose. The specific genetic analysis performed is determined by the disease carried by the couple, after detailed genetic counseling.

The unit performs genetic analysis using PCR methods for diseases caused by single gene mutations, and FISH analysis for diagnosing chromosomal aberrations. The technique allows us to look at several genes at once, making it much more reliable than tests used at other centers. The ability to precisely identify the mutation allows us to differentiate between embryos who are sick, healthy and carriers of the disease, and improves the chance for a healthy child.

So far we have developed tests for the following genetic diseases:

Fragile X syndrome

Muscle Dystrophies such as Duchenne and SMA.

Canavan's disease.

Bloom's syndrome.

Familial dysautonomia

Cystic Fibrosis.

Gender analysis for X linked disorders.

HLA matching for bone marrow transplant to a sick sibling.

Chromosomal translocation.

Adrenoleukodystrophy

Kleinfelter's syndrome

Dwarfism

Albinism

We are also developing new tests for additional genetic disorders requested by patients. In fact, our PGD system may be used for diagnosis of any disease with a recognized mutation or any disease diagnosed by amniocentesis.

Using PGD techniques for diagnosis of habitual abortions or IVF failures

The FISH technique is used for the identification of chromosomal aberrations by checking for chromosomal structure and number. It is useful in couples with recurrent IVF failures, women with recurrent abortions and older women attempting to conceive who have a higher risk of chromosomal aberrations. The IVF unit offers FISH on 9 different chromosomes, increasing the chances of identifying aberrant embryos and ensuring the transfer of healthy ones into the uterus.

Human embryonic stem cells for the study of human genetic disorders

Project Director: Dr. Dalit Ben-Yosef, PHD

In PGD, embryos found to be healthy, by the analysis are transferred to the uterus to hopefully produce a pregnancy and the birth of a healthy child. Before, we started on our project for deriving human embryonic stem cells; embryos found to be affected by the PGD procedure were discarded. We now take these affected embryos that are donated following the approval of the national ethic committee and after obtaining informed consent from the couple undergoing PGD, so that we can grow them in the lab for another 3-4 days until they reach late-blastocyst stage. We then use them for the generation of an embryonic stem cell line that naturally harbor the specific gene defect that they carry.