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Highlights

NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome 

Myoblast FusionAn international team of researchers has identified the genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare, inherited muscle disorder. Their findings provide insight into the development of an embryo's muscles and the regeneration of muscle cells after injury. The study was published today July 6, 2017 in Nature Communications

NHGRI's Cynthia Tifft receives 2017 NORD Rare Impact Award

Dr. Cynthia Tifft is awarded 2017 Rare Impact AwardDr. Cynthia Tifft, NHGRI Deputy Clinical Director and Director of the Pediatric Undiagnosed Diseases Program at the National Institutes of Health, has received the National Organization for Rare Diseases (NORD) 2017 Rare Impact Award. Dr. Tifft has dedicated decades of work to researching rare diseases and advocating for rare disease patients. 

Study identifies African-specific genomic variant associated with obesity

GoatAn international team of researchers has conducted the first study of its kind to look at genomic underpinnings of obesity in continental Africans and African Americans. They discovered that approximately 1 percent of West Africans, African Americans and others of African ancestry carry a genomic variant that increases their risk of obesity and provides insight into why obesity clusters in families. The were published March 13, 2017, in the journal Obesity.

NIH to expand critical catalog for genomics research

Read moreThe National Institutes of Health plans to expand its Encyclopedia of DNA Elements (ENCODE) Project, a fundamental genomics resource used by many scientists to study human health and disease. Funded NHGRI, a part of the NIH, the ENCODE Project strives to catalog all genes and regulatory elements - the parts of the genome that control whether genes are active or not - in humans and select model organisms. Four years of additional support will build on a long-standing commitment to developing freely available genomics resources for use by the scientific community.

NIH researchers unveil new wound-healing role for protein-folding gene in mice

Read moreNational Institutes of Health researchers have identified a novel role for a gene known as heat shock protein 60 (Hsp60), finding that it is critical in tissue regeneration and wound healing. The study found that topical treatment of an Hsp60-containing gel dramatically accelerates wound closure in a diabetic mouse model.