Israeli, French team eyes genetic syndromes cure

Researchers innovative technique looks to cure syndromes such as those that cause cleft lips and palates in babies.

February 11, 2013 04:14
1 minute read.
A PREMATURE BABY born in an Israeli hospital

A PREMATURE BABY born in an Israeli hospital 370. (photo credit: Courtesy Forum for Premature Babies)


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


An Israeli-French team of scientists has developed an innovative technique that they believe will cure numerous rare genetic syndromes in babies.

These syndromes include those that cause cleft lips and palates; defects in the fingernails, sweat glands, teeth, fingers, skull and facial bones; and a syndrome that makes the corneas opaque, threatening the victim with blindness.

Researchers from the Technion- Israel Institute of Technology in Haifa and the Paris Descartes University investigated the cause of ectodermal dysplasia, which affects seven out of every 10,000 babies born in the world. The collection of syndromes, they discovered, results from a mutation in the p63 gene.

More than 150 different congenital syndromes have been identified, and while they affect a variety of different organs, the symptoms are similar. The syndromes can affect any race, but are more common in light-haired Caucasians, and were named about 85 years ago.

Their paper has just been published in Proceedings of the National Academy of Sciences of the United States of America.

The researchers created a unique cellular model that summarizes the main embryonic defects involved in ectodermal dysplasia. Dr. Ruby Shalom-Feuerstein of the Technion’s Rappaport Faculty of Medicine and Prof. Daniel Aberdam and Dr. Isabel Petit of Paris programmed cell samples taken from patients with the syndrome, so they would turn into pluripotent stem cells that bear the mutation.

In the next stage, they proved that unlike normal embryonic stem cells, those taken from the patients were unable to complete the embryonic ripening process to become skin and cornea cells. Finally, using a chemical substance called PRIMA-APR246, the team greatly improved the function of the damaged cells via in-vitro experiments.

They said that the substance is likely to improve renewal of the skin and corneas in patients.

But the researchers said they are being careful and will wait for clinical testing that will look at the drug’s influence on the functioning of the cornea.

These tests will be carried out at Saint Louis Hospital in Paris.

The research proves the relevance of embryonic stem cell research for the investigation of genetic diseases in general and specifically disorders connected to the p63, and paves the way for future treatments, concluded the researchers.

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

August 31, 2014
Weizmann scientists bring nature back to artificially selected lab mice