August 22, 2016: NIH researchers discover otulipenia, a new inflammatory diseaseNew 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.
July 12, 2016: Researchers advance treatment possibilities for Gaucher, Parkinson'sNew 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 detailNew 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.
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.
April 29, 2016: NIH creates Atlas of Human Malformation Syndromes in Diverse PopulationsResearchers 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 literacyThe 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.
February 5, 2016: NIH researchers identify striking genomic signature shared by five types of cancerNational 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.
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.