The National Human Genome Research Institute is providing $40 million to fund exome sequencing of patients with Mendelian diseases as part of a larger international effort to eventually understand the genetic basis of all rare diseases.

Last week, the International Rare Disease Consortium met in Bethesda, Md., to discuss a framework for its larger goal of developing diagnostics for all 6,000 to 8,000 known rare diseases and to develop therapies for 200 of those diseases by 2020.

Get the full story with
GenomeWeb Premium

Only $95 for the
first 90 days*

A trial upgrade to GenomeWeb Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now.
Or, See if your institution qualifies for premium access.

*Before your trial expires, we’ll put together a custom quote with your long-term premium options.

Not ready for premium?

Browse our free articles
You can still register for access to our free content.

In Science this week: self-assembly of DNA components in solution, and more.

Genetics and Molecular Research retracts two gastric cancer papers for being "substantially equal" to other papers, according to Retraction Watch.

A new analysis indicates that the Ebola virus behind the current West African outbreak is mutating at about the same rate as other Ebola viruses.

With the launch of Scott Kelly into space today, the study of him and his earthbound brother to disentangle the effects of life in space from the effects of genetics kicks off.

Apr
15
Sponsored by
WaferGen

This live online seminar will highlight recent trends in applying next-generation sequencing in the clinical setting, with a particular focus on oncology and rare disease.