Posts Tagged ‘NIH’
With More Than a Million Records, ClinVar Value Grows as Variant Classification Resource
Since its launch in 2013, ClinVar has not only amassed a wealth of genetic variant information, but the lab and clinical genetics communities in the U.S. are readily referencing it when they have questions about the clinical significance of variants.
Read MoreEllen Matloff Quoted in GenomeWeb Article on Barriers to In-Person Genetic Counseling
People around the US, regardless of whether they live in a large city or a remote village, can now order genetic tests online to learn their inherited risks for serious diseases, such as cancer. But what do individuals do after they learn their risks? How do they find experts who can help them understand their…
Read MoreLandmark Advancement in Cystic Fibrosis Therapy
The Cystic Fibrosis (CF) community celebrates a landmark achievement this fall. For the first time, a highly effective medication is available to treat the underlying cause of CF for 90% of people with this life-threatening genetic disease. CF causes frequent lung infections, progressive lung disease, and malnutrition due to abnormally thick mucus in the lungs…
Read MoreAre You Living with an Undiagnosed Disease?
Are you or a loved one living with an undiagnosed disease? You’re not alone: thousands of Americans—maybe more—go undiagnosed every year, and millions are living with rare diseases. It can take up to 5 years for someone living with a rare disease to get diagnosed, and it takes more than 5 years for 15% of…
Read MoreJackson Lab's Forum on Healthcare Innovation
“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus on October 25-26, 2017. The conference was full of healthcare innovators and professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. Check out some…
Read MoreMobile and Personal Technologies in Precision Medicine Workshop
Last week the Precision Medicine Initiative (PMI) Working Group of the Advisory Committee to the NIH Director (ACD) hosted a public workshop on Mobile and Personal Technologies in Precision Medicine in Santa Clara, CA. Over the course of two days, speakers from across many sectors made the case that new and emerging technologies will push precision medicine forward by empowering…
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