Fight to secure funding for gene-flaw tests

By Simon Rocker, August 23, 2012

Jewish organisations have mobilised against a potential threat to state funding for screening for the fatal genetic disease, Tay Sachs.

The UK National Screening Committee is considering a report which earlier this year cast doubt on the value of a screening programme, noting that “only one baby” suffering from Tay Sachs was expected to be born within the UK Ashkenazi Jewish community each year.

The Board of Deputies, Jewish Genetic Disorders UK and Jewish Care have written to the National Screening Committee in order to protect funding.

Katrina Sarig, chief executive of JGDUK, said; “It is an essential service that is needed in our community.”

Alan Harris, the founder of the Tay Sachs and Allied Diseases Association, who lost a daughter to the disease, said: “The number of babies diagnosed and subsequently dying of Tay Sachs Disease was reduced through the introduction of education and parental screening.”

Ashkenazi Jews are 10 times more likely than the UK population to carry the gene which causes Tay Sachs. The disease occurs only if both parents are carriers, when there is a one in four chance of a baby being born with it. Around one in every 25 to 30 Ashkenazim carry the gene.

Jewish Care, which runs a screening and awareness programme in the Jewish community, told the committee that “testing should continue with a greater emphasis on empowering the community to roll out the programme and information”.

The Board of Deputies has also called for screening for other disorders to which Jews are more susceptible, particularly Canavan’s Disease and Familial Disautonomia.

According to Ms Sarig, there are 17 known cases of Familial Disautonomia in the UK Jewish community. Sufferers can now survive into their 30s and 40s with sophisticated medical care. But the rarer Canavan’s, like Tay Sachs, usually proves fatal in early infancy.

Meanwhile a doctor at the Royal Free Hospital in north London will study another genetic disease suffered by a high proportion of Ashkenazi Jews.

Dr Derralynn Hughes will use a new grant to concentrate on the study of Gaucher’s disease, which can cause pain due to enlarged organs or affected bones.

Gaucher’s, first identified in 1882, is known to occur in Ashkenazi Jews at 100 times that of the general population.

Last updated: 10:07am, August 23 2012