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.

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