Thursday, 19 July 2012

Crowd-funded Exome Sequencing for Rare Genetic Diseases

Alerted to this by Massgenomics

Crowd-funded Exome Sequencing for Rare Genetic Diseases

Crowdfunding and Families with Rare Diseases

That being said, I'm writing about this because it's a good story. Friends, relatives, and total strangers made cash donations, in tough economic times, to help this little girl.

As Daniel MacArthur (@dgmacarthur) put it on Twitter, this story makes me feel good about humanity.

Exome and whole-genome sequencing have enabled the discovery of many causal variants behind rare disorders, but this is the first time it's been accomplished by raising funds on the internet. The "crowd-funding" model, as it's called, may offer some hope to the thousands of families dealing with a rare genetic disorder. The majority of them won't have the opportunity to be studied in a government-funded research. And next-gen sequencing isn't usually covered by health insurance. If they can raise the funds on their own, however, a genetic diagnosis may be possible.

It will not come easy. The analysis and interpretation of sequence data requires considerable time and expertise. And as I've recently written,exome sequencing does not guarantee an answer even for Mendelian diseases. Even so, discoveries are possible. That likely provides a glimmer of hope for those with rare genetic disorders.

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