Genetic disorders awareness campaign

By Robyn Rosen, September 16, 2010

The wife of a lawyer with a rare condition has set up a charity to raise awareness of genetic disorders which are more prevalent among Ashkenazi Jews.

Katrina Sarig, 38, founded Jewish Genetic Disorders UK after struggling to discover information about her husband's neuromuscular condition.

Now 40, Ro'i Sarig was diagnosed with Torsion Dystonia when he was 15. But it was five years ago when the couple began planning a family that they came to appreciate the difficulty in gathering information.

With medical expertise in her family and Mrs Sarig's own research background, "we were lucky to be able to access information.

"But what became very clear was that there are incredible things happening scientifically that are not reaching the public. It seemed crazy to us. There was a real need to bring together all the information out there in one place."

The charity aims to assist prevention, diagnosis, and treatment of Jewish genetic disorders by improving access to information and support to those affected or at risk.

"Most people have heard of Tay Sachs but developments in science have shown there is an extensive group of conditions that have a Jewish element to them," the north Londoner pointed out. "There are 10-to-15 other conditions more prevalent in Ashkenazi Jews that most people haven't heard of.

"Working collaboratively with experts, related patient groups, healthcare professionals and Jewish community educators, we have the opportunity now to capitalise on scientific advances and make a real difference in the prevention and management of these genetic conditions. The best you can do for your family is to understand your genetic profile and the risks."

Gaucher Disease, Bloom Syndrome and Mucolipidosis are among other disorders covered on the charity's website.

The charity's board of trustees and medical advisory committee features a number of high-profile scientists and professionals. They include Patricia Jacobs, professor of human genetics at the University of Southampton, Dr Angela Barnicoat, a consultant clinical geneticist at Great Ormond Street Hospital and Peter Jacobs, the former CEO of Bupa.

Last updated: 11:06am, November 21 2016