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Whole genome-sequencing uncovers new genetic cause for osteoporosis

GeneBoard224x135Dr Brent Richards, an Honorary Senior Lecturer within the Department of Twin Research, has led an international team of researchers in identifying a novel gene implicated in osteoperosis, using one of the world's largest data sets. Dr Richards and his team were able to use the extensive genetic data compiled by the UK10K project to identify a genetic variant near the gene EN1 as having the strongest effect on bone mineral density (BMD) and fracture identified to date. The findings are published in the September issue of Nature.

‘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’ says Dr Richards, who works in the Lady Davis Institute at the Jewish General Hospital and is also an Associate Professor of Medicine at McGill University in Montreal, Canada.

Osteoporosis is a common disease which becomes more severe with age, and so is becoming more prevalent with the overall aging of the population. There are currently few safe and effective treatments for osteoporosis, and no curative therapies available.

The UK10K project has measured genetic variations in 10,000 individuals in great detail, allowing researchers to correlate rare genetic changes with human disease by comparing the DNA of healthy individuals with those who have health problems. The use of such an extensive sample size allows for the observation of genetic variants that are not discernable among smaller groups and this particular study also shows that in principle, uncommon genetic variants can have a significant impact on common diseases.

Further information:

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture by J. Brent Richards et al, Nature, on-line September 14, 2015.

See also, The UK10K project identifies rare variants in health and disease Nature, September 14, 2015.

You can read the full Lady Davis Institute news article on their website.