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