GTEx findings reveal new insights into how DNA differences influence gene activity, disease susceptibility
Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine the underlying genomics of many different human tissues and cells at the same time, and promises to open new avenues to the study and understanding of human biology. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - May 7, 2015 Category: Genetics & Stem Cells Source Type: news

NHGRI participates in international human microbiome meeting March 31-April 2
Representatives from the National Institutes of Health (NIH)-funded Integrative Human Microbiome Project (iHMP), which is coordinated by the National Human Genome Research Institute (NHGRI), will present findings at the 5th International Human Microbiome Congress. The Congress, organized by the International Human Microbiome Consortium (IMHC) and the Integrated BioBank of Luxembourg, will take place March 31- April 2 in Luxembourg. The human microbiome consists of trillions of microorganisms living in nearly every part of the human body. While some cause disease, the vast majority are important for health or are harmless. ...
Source: NHGRI Press Releases - March 27, 2015 Category: Genetics & Stem Cells Source Type: news

Researchers grasp wider role for genetic variation in regulatory elements of genome
New findings, reported online March 2, 2015 in the journal Nature Genetics, provide new insights into the effects and roles of genetic variation and parental influence on gene activity in mice and humans, as well as the cause of complex traits and disease in both species. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - March 5, 2015 Category: Genetics & Stem Cells Source Type: news

NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases
Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are key to regulating the human immune system. The findings, published in Nature today, Feb. 17, 2015, open the door to new research and development in drugs and personalized medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 17, 2015 Category: Genetics & Stem Cells Source Type: news

NIH-funded study uncovers range of molecular alterations in head and neck cancers, new potential drug targets
Investigators with The Cancer Genome Atlas (TCGA) Research Network have discovered genomic differences - with potentially important clinical implications - in head and neck cancers caused by infection with the human papillomavirus (HPV). HPV is the most common sexually transmitted virus in the United States, and the number of HPV-related head and neck cancers has been growing. Almost every sexually active person will acquire HPV at some point in their lives, according to the Centers for Disease Control and Prevention. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - January 28, 2015 Category: Genetics & Stem Cells Source Type: news

Researchers conduct comprehensive genomic study of sub-Saharan Africans
An international team that includes researchers from the National Institutes of Health has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The region is the most genetically diverse in the world, yet few studies have looked into genomic risk factors for disease in Africa. The study provides clues to medical conditions in people of sub-Saharan African ancestry, and indicates that the migration from Africa in the early days of the human race was followed by a migration back into the continent. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - December 3, 2014 Category: Genetics & Stem Cells Source Type: news

New comprehensive view of the mouse genome finds many similarities and striking differences with human genome
An international group of researchers has found powerful clues to why certain processes and systems in the mouse are so different from those in people. Building on years of mouse and gene regulation studies, they have developed a resource that can help scientists better understand how similarities and differences between mice and humans are written in their genomes. Their findings �are reported by the mouse ENCODE Consortium online Nov. 19, 2014 (and in print Nov. 20) in four papers in Nature and in several other publications. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - November 19, 2014 Category: Genetics & Stem Cells Source Type: news

Media Availability: Researchers uncover new evidence revealing molecular paths to autism
In the largest study of its kind to date, researchers have used DNA sequencing to uncover dozens of genes that heighten the risk for autism. Joseph Buxbaum, Ph.D., Icahn School of Medicine at Mount Sinai, New York City, Mark Daly, Ph.D., Broad Institute of Harvard and MIT, and their colleagues examined more than 14,000 DNA samples from affected children, parents and unrelated people. They identified changes in 107 genes that are likely to contribute to the risk for autism spectrum disorder (ASD) - a jump from the nine genes implicated in earlier studies using these approaches. The findings, reported online October 29, 2014...
Source: NHGRI Press Releases - October 28, 2014 Category: Genetics & Stem Cells Source Type: news

Media Availability: TCGA study improves understanding of genetic drivers of thyroid cancer
A comprehensive analysis of the genomes of nearly 500 papillary thyroid carcinomas (PTC) - the most common form of thyroid cancer - has provided new insights into the roles of frequently mutated cancer genes and other genomic alterations that drive disease development. The findings also may help improve diagnosis and treatment. Investigators with The Cancer Genome Atlas (TCGA) Research Network identified new molecular subtypes that will help clinicians determine which tumors are more aggressive and which are more likely to respond to certain treatments. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - October 23, 2014 Category: Genetics & Stem Cells Source Type: news

Media Availability: NHGRI, Smithsonian and NIH Foundation present conversations on genomics, health
The National Human Genome Research Institute (NHGRI), the Smithsonian's National Museum of Natural History (NMNH), and the Foundation for the National Institutes of Health will present a symposium on the future of genomics, health, and the impact of genomics globally. The symposium will feature conversations with leaders in the field of genomics whose varied and evocative perspectives illuminate genomic advances in the coming decade and aspects of its relevance for global health. The symposium will include an afternoon and an evening session. Both will be open to the public, who must register but will be admitted free ...
Source: NHGRI Press Releases - September 23, 2014 Category: Genetics & Stem Cells Source Type: news

NIH awards aim to improve understanding of cell pathways, development of new therapies
Building on a successful three-year pilot project, the National Institutes of Health has awarded more than $64 million to six research institutions to create a database of human cellular responses, the Library of Integrated Network-based Cellular Signatures (LINCS). Discovering such cell responses will improve scientists' understanding of cell pathways and aid in the development of new therapies for many diseases. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - September 11, 2014 Category: Genetics & Stem Cells Source Type: news

Scientists looking across human, fly and worm genomes find shared biology
Researchers analyzing human, fly, and worm genomes have found that these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, appearing Aug. 28, 2014, in the journal Nature, offer insights into embryonic development, gene regulation and other biological processes vital to understanding human biology and disease.� The studies highlight the data generated by the modENCODE Project and the ENCODE Project. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 27, 2014 Category: Genetics & Stem Cells Source Type: news

NIH issues finalized policy on genomic data sharing
The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as a way to speed the translation of data into knowledge, products and procedures that improve health while protecting the privacy of research participants. �The final policy was posted in the Federal Register Aug. 26, 2014 and published in the NIH Guide for Grants and Contracts Aug. 27, 2014. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 27, 2014 Category: Genetics & Stem Cells Source Type: news

Genome exhibition to depart Smithsonian for multi-city tour
With eye-catching models, interactive displays and engaging elements, the Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History (NMNH) in Washington.� On Sept. 1, 2014, the contemporary, high-impact exhibition-a collaboration between the museum and the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health- will start engagements at museums and science centers throughout North America. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 26, 2014 Category: Genetics & Stem Cells Source Type: news

MEDIA AVAILABILITY: Rare kidney tumor provides insights on role of metabolic changes in cancer
Researchers in The Cancer Genome Atlas (TCGA) Network have made a number of new findings about the biology and development of a rare form of kidney cancer. They found that the disease - chromophobe renal cell carcinoma (ChRCC) - stems in part from alterations in genes in the mitochondria, the cell's energy supplier. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 21, 2014 Category: Genetics & Stem Cells Source Type: news