Key points from article :
23andMe and GlaxoSmithKline have delved into direct-to-consumer genetic data to find new genetic contributors for a handful of rare diseases.
Rare diseases each affect fewer than 200,000 individuals apiece in the US.
But with nearly 7,000 of them, that's 30 million people affected.
80 percent of 23andMe's 11 million genotyped users consent to participate in research.
Genome-wide association analyses included 19,084 rare disease cases.
Uncovered significant associations at five new loci for three of the conditions - Duane retraction syndrome. vestibular schwannoma and spontaneous pneumothorax.
Validated associations using UK Biobank.
Self-reported rare disease data is a viable method for discovering genetic associations for rare diseases.
In future may be able to tell "whether we can develop drugs that act against that disease-causing mechanism" - Shringarpure, 23andMe senior scientist.
