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Rare Disease Day February 28 2015

February 28th is Rare Disease Day

On Friday, Feb. 27, the National Institutes of Health (NIH) will celebrate the 8th annual Rare Disease Day with a day-long celebration and recognition of various rare disease research activities. The event begins at 8:30 a.m. at Masur Auditorium (Clinical Center Building 10). Attendance is free and open to the public.
For more about Rare Disease Day at NIH, go to NIH Rare Disease Day
For more about Rare Disease Day 2015, go to Rare Disease Day

A health professional looking at a monitor with genomic data and a patient

Papers from eMERGE highlight large-scale genomics research

Nearly 20 papers published online in 2014 highlight research on the use of DNA biorepositories and electronic medical records (EMRs) to understand the underlying genomics of disease. The papers appeared in Frontiers in Genetics and were co-authored by members of the Electronic Medical Records and Genomics (eMERGE) Network, which is supported by NHGRI. Read more

Dr. Melissa Harris and Dr. Steve Parker

NHGRI assists new investigators with Pathway to Independence

The National Institutes of Health supports the rising careers of talented investigators through the Pathway to Independence (PI) award, also called the K99/R00 grant. In 2014, the National Human Genome Research Institute (NHGRI) hosted two PI awardees and supported 18 additional investigators at institutions nationwide. Read more


Genome regions linked to BMI and fat distribution

Researchers have linked new regions of the human genome to body mass index (BMI) and fat distribution, according to two studies just published in Nature. NHGRI intramural researchers and PAGE Consortium scientists supported by NHGRI contributed to studies that may lead to more effective therapeutic targets.
Read more at nature.com:
New genetic loci link adipose and insulin biology to body fat distribution
Genetic studies of body mass index yield new insights for obesity biology

The Genomics Landscape
NHGRI Director Eric Green, M.D., Ph.D.

President Obama's Precision Medicine Initiative

February's The Genomics Landscape is later than usual for a good reason! I was in the White House East Room with a number of other NHGRI and NIH colleagues to hear President Obama announce the Precision Medicine Initiative. I'm honored to be part of the extensive planning leading to last week's unveiling, and it will be gratifying to have NHGRI involved in making this important initiative a reality. Read more

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