Researchers hope to recruit 100,000 Pakistanis and Bangladeshis living in East London in one of the first large studies in the long term to explore the links between genetics and health in a poor ethnic community. The study, launched today, is also one of the largest effort yet to find rare individuals who are healthy, despite the absence of a specific gene.
East London is home to many poor immigrants from Pakistan and Bangladesh, and communities suffering from high rates of diseases such as heart disease and diabetes. The study East London Genes & Health will focus on two groups that are left out of most genetic studies, which rely heavily those of Northern European descent. "It is a great opportunity to improve health and the health of the population in East London," said co-leader of the study David van Heel from Queen Mary University of London, who announced study today. the funding of £ 4 million comes from the Wellcome Trust and the Medical Research Council in the United Kingdom.
researchers also hope to gather information on healthy people who have mutations in both copies of a gene that make it non-functional. These rare individuals could shed light on "what happens when parts of the genetic material are not working," says co-study leader Richard Trembath. If the missing gene protects somewhat against the disease, a drug that targets this gene could treat the disease without causing side effects. An example is PCSK9 , a gene found to be missing in a woman "perfect health" in Texas that led to a new class of cholesterol-lowering drugs, notes van Heel.
These "human knockouts" are extremely rare in the general population. But the chances that someone will inherit two knocked-out copies of the same gene were higher in the groups in which relatives often marry, such as the Pakistani and Bangladeshi communities. (This explains why the rare monogenic diseases are more common in these groups, although the study of these diseases are not the purpose of the study is London, it is the subject of another large British study, Genomes project 100,000.) "It's an opportunity for us to better understand the appearance" of knocked-out genes, van Heel said.
investigators plan to spend 4 years to recruit volunteers 16 and older, healthy or ill, from Bangladesh or Pakistan. Participants will give a saliva sample and allow scientists to access their health records. Sanger Institute Wellcome Trust has agreed exomes sequence (DNA encoding the protein) to the first 25,000 participants, hopefully by the end of 2017, van Heel said. The Broad Institute in Cambridge, Massachusetts, will contribute to genomic analysis.
Some participants may be invited in the next two decades to participate in the study of diseases, gene knockout, and how certain genes influence how people respond to medicines. Volunteers will not receive any direct benefit from the study, Trembath admits, but they will have the opportunity "to make a difference to the health of future generations."
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