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Research Directions in Genetically-Mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

On March 3-4, 2014, NHGRI will sponsor Research Directions in Genetically-Mediated Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis at Building 31 on the NIH Main Campus. The workshop aims to review current knowledge of the surveillance, pathogenesis and treatment of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN); examine the role of genomics and pharmacogenomics in the etiology, treatment and eradication of the preventable causes of drug-induced SJS/TEN; and identify priorities for future research. Read the agenda

Genome Advance of the Month
CRISPR-Cas9 editing of the genome

CRISPR-Cas9 probes the inner workings of the genome in real time

January's Genome Advance of the Month describes two studies, published in Nature and Nature Biotechnology, which examine the ways researchers are using CRISPR-Cas9, a new tool that studies the genome by changing specific genes or groups of genes. Read more

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 published in Nature. NHGRI 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

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