The DNA of thousands of British people has been read and made available to researchers around the world to advance the search for genetic causes of disease.
The UK10K study has shared the mapped genomes of 4,000 healthy people with international scientists, along with detailed information on the participant’s vital health stats such as height, weight, blood pressure, cholesterol levels and 60 other medical measurements.
A further 6,000 partial genomes gained from the DNA of people with different disorders, including autism and schizophrenia, are also being made available for researchers to explore.
These genomes include only the sections of DNA that the body uses to make proteins. The DNA was used to identify rare genetic variants that raise the probability of a variety of diseases.
DNA Data is a ‘Quantum Leap’
With help from this project scientists have reported four new and rare risk factors for coronary heart disease and obesity. Nicole Soranzo, a geneticist at the Wellcome Trust’s Sanger Institute in Cambridge said: “We are making all of these data available to the scientific community, which in terms of a resource is a quantum leap.” This is particularly apposite when you consider that the findings include 24 million new genetic variants from healthy Europeans, which reflect the genetic diversity of the population.
The aim of the project is to find rare DNA mutations that make people more likely to develop certain diseases. Researchers suspect many more mutations are waiting to be found, but are hard to identify because they are either very rare, or raise the risk of disease only marginally.
UK10K Project Makes New Discoveries for Osteoporosis
Already the genomes released from the UK10K project have been used by scientists at McGill University in Motreal to uncover a genetic variant near the gene EN1 as being linked to osteoporosis in humans.
Dr Brent Richards who lead the team said: “EN1 has never before been linked to osteoporosis in humans, so this opens up a brand new pathway to pursue in developing drugs to block the disease.
“The effect of this uncommon genetic variant that we identified in this gene is twice as large as any previously identified genetic variants for bone mineral density and fracture.”
Dr Richards praised the efforts of the UK10K project explaining: “We are finally able to extract enough data to discern variants that are rare in the overall population and are more frequent among those with common diseases. This is precisely what has been revealed in the case of EN1 and osteoporosis.”
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