Non-invasive test for Gaucher disease developed

Technique does not require a sample of amniotic fluid

September 1, 2015 02:53
2 minute read.
Doctors perform surgery

Doctors perform surgery. (photo credit: COURTESY SZMC)


Dear Reader,
As you can imagine, more people are reading The Jerusalem Post than ever before. Nevertheless, traditional business models are no longer sustainable and high-quality publications, like ours, are being forced to look for new ways to keep going. Unlike many other news organizations, we have not put up a paywall. We want to keep our journalism open and accessible and be able to keep providing you with news and analysis from the frontlines of Israel, the Middle East and the Jewish World.

As one of our loyal readers, we ask you to be our partner.

For $5 a month you will receive access to the following:

  • A user experience almost completely free of ads
  • Access to our Premium Section
  • Content from the award-winning Jerusalem Report and our monthly magazine to learn Hebrew - Ivrit
  • A brand new ePaper featuring the daily newspaper as it appears in print in Israel

Help us grow and continue telling Israel’s story to the world.

Thank you,

Ronit Hasin-Hochman, CEO, Jerusalem Post Group
Yaakov Katz, Editor-in-Chief


Researchers at Jerusalem’s Shaare Zedek Medical Center have developed a new technique to discover hereditary diseases in young embryos and fetuses in natural pregnancies without the need to examine samples of amniotic fluid in the uterus.

The team, headed by Dr. Gheona Altarescu, head of the preimplantation genetic diagnosis project at the hospital’s Medical Genetics Institute, calls their achievement a “breakthrough.”

The results have been published in the Journal of Clinical Investigation , a leading journal on clinical trials.

Working with Dr. David Ze’evi of the genetics department, the technique was used on eight couples who carry the Gaucher disease genetic disorder. The technique identified the cause of the disease in 100 percent of the cases and, as a result, the team will attempt to use it to predict other hereditary disorders. Characterized by bruising, fatigue, anemia, low levels of blood platelets and enlargement of the liver and spleen, Gaucher disease is caused by a hereditary deficiency of the enzyme glucocerebrosidase and treated by supplements of the enzyme in recombinant form.

At present, when it is known that a couple carries a genetic disease, there are two ways to test the newly formed embryo – preimplantation diagnosis, testing a cell removed from the embryo before it is returned to the womb, and an invasive test called amniocentesis, or chorionic villus sampling. The new test can identify hereditary diseases with a simple test of the mother’s blood, which contains chromosomal material from the fetus. The technique for identifying Down syndrome by testing the mother’s blood was discovered by a Hong Kong researcher, Altarescu explained. But it could find only genetic defects passed on by the father, because it was difficult to differentiate between material that originated in the mother from that of the fetus. The new technique makes it possible to identify genetic material in the mother’s blood originating in the genes of both the mother and the father.

“We started our research with Gaucher patients in cooperation with the head of our Gaucher clinic, Prof. Ari Zimran,” said Ze’evi. “We chose this group because these carriers are very accessible to us, as Zimran’s clinic is the largest in the world, and because the technique does not cause miscarriages in pregnant women.”

Participants in the study underwent the blood test during normal pregnancies, and after they delivered, the babies were tested. The results of the test on the women’s blood turned out to be identical to those in the babies, Altarescu noted.

Join Jerusalem Post Premium Plus now for just $5 and upgrade your experience with an ads-free website and exclusive content. Click here>>

Related Content

July 22, 2019
Assa Abloy Israel wins


Cookie Settings