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July 6, 2017: NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome
Bethesda, Md., Mon., July 6 2017 - An 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.
March 13, 2017: Study identifies African-specific genomic variant associated with obesity
Bethesda, Md., Mon., March 13, 2017 - An 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.
February 2, 2017: NIH to expand critical catalog for genomics research
Bethesda, Md., Wed., February 1, 2017 - The National Institutes of Health (NIH) 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.
October 27, 2016: NIH researchers unveil new wound-healing role for protein-folding gene in mice
Bethesda, Md., Thur., October 27, 2016 - National 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. Researchers found that topical treatment of an Hsp60-containing gel dramatically accelerates wound closure in a diabetic mouse model. The study was published online today, October 27, in the journal npj Regenerative Medicine.
October 26, 2016: Gene therapy shows promise for treating Niemann-Pick disease type C1
Bethesda, Md., Wed., October 26, 2016 - or the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less severe NPC1 symptoms. The study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the journal Human Molecular Genetics.
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August 22, 2016: NIH researchers discover otulipenia, a new inflammatory disease
Bethesda, Md., Mon., August 22, 2016 - National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure to grow or thrive. Read more in the Aug. 22, early edition of the Proceedings of the National Academy of Sciences.
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July 12, 2016: Researchers advance treatment possibilities for Gaucher, Parkinson's
Bethesda, Md., Mon., July 12, 2016 - NIH researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. The findings were published July 12, 2016 in The Journal of Neuroscience.
July 11, 2016: Media Availability: Genetics of type 2 diabetes revealed in unprecedented detail
Bethesda, Md., Mon., July 11, 2016 - A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published July 11 in the journal Nature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments.
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May 17, 2016: NIH funds new studies on ethical, legal and social impact of genomic information
Bethesda, Md., Tues., May 17, 2016 - Four new grants from the National Institutes of Health will support research on the ethical, legal and social questions raised by advances in genomics research and the increasing availability of genomic information. The awards will fund researchers at interdisciplinary centers through the National Human Genome Research Institute's (NHGRI) Centers of Excellence in Ethical, Legal and Social Implications Research (CEER) program.
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April 29, 2016: NIH creates Atlas of Human Malformation Syndromes in Diverse Populations Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world. The free electronic atlas was announced online in Genetics in Medicine.
April 11, 2016: Media Availability: NHGRI celebrates National DNA Day with events that promote genomic literacy The National Human Genome Research Institute (NHGRI) will celebrate its fourteenth annual National DNA Day on Monday, April 25, 2016. National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. NHGRI, part of the National Institutes of Health (NIH), began celebrating this day annually on April 25, 2003, after the 108th Congress passed concurrent resolutions designating it as "National DNA Day." To mark this historic day, NHGRI is hosting events in the week leading up to and on National DNA Day.
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February 5, 2016: NIH researchers identify striking genomic signature shared by five types of cancer National Institutes of Health researchers have identified a signature in tumor DNA that occurs in five different types of cancer. They also found evidence that this methylation signature may be present in many more types of cancer. The specific signature results from a chemical modification of DNA called methylation, which can control the expression of genes like a dimmer on a light switch. Researchers hope to spur development of a blood test that can be used to diagnose a variety of cancers at early stages. The study appears today, February 5, 2016, in The Journal of Molecular Diagnostics.
February 3, 2016: NIH Scientists Discover Genetic Cause of Rare Allergy to Vibration
Scientists at the National Institutes of Health (NIH) and the National Human Genome Research Institute have identified a genetic mutation responsible for a rare form of inherited hives induced by vibration, also known as vibratory urticaria. Running, hand clapping, towel drying or even taking a bumpy bus ride can cause temporary skin rashes in people with this rare disorder.
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January 14, 2016: NIH genome sequencing program targets the genomic bases of common, rare disease
The National Institutes of Health will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. The National Human Genome Research Institute (NHGRI), part of NIH, today launched the Centers for Common Disease Genomics (CCDG), which will use genome sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. NHGRI also announced the next phase of a complementary program, the Centers for Mendelian Genomics (CMG), which will continue investigating the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy.
Last Updated: March 13, 2017