domingo, 12 de enero de 2014

PHG Foundation | Potential expansion of Qatari inherited disease screening

PHG Foundation | Potential expansion of Qatari inherited disease screening

Potential expansion of Qatari inherited disease screening

8 January 2014   |   By Dr Philippa Brice   |   News story

Sources: Press releaseGulf Times
Genomic research has identified 37 variants in 33 genes associated with inherited diseases including cystic fibrosis, sickle cell anaemia and muscular dystrophy among the Qatari population.
Researchers from Weill Cornell Medical College (WCMC) led an exome sequencing project that examined the DNA from 100 Qatari citizens from the three most common ethnic subgroups - the Bedouin, people of Persian-South Asian descent, and people of African descent. The exome sequences were compared with those from the international 1000 Genomes Project 
It is hoped that the discoveries could be used to make premarital genetic screening and counselling more effective and reduce the incidence of serious forms of inherited disease in the Qatari population; current programmes screen for only four genetic variants.
Dr. Ronald Crystal, chairman of genetic medicine at WCMC New York said: "The reason this is relevant for Qatar is that the structure of the society encourages a high degree of consanguineous marriage, so the frequency of these monogenic diseases is quite high"Consanguineous marriage (ie. between blood relatives) increases the probability of inherited disease in children, as both healthy parents may be unwitting carriers of the same recessive diseases.
Qatar has previously shown interest in biomedical research to support improved population health, having established the Qatar biobank in 2010 (see previous news). 

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