October 28, 2014: 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, in Nature, provide a better understanding of some of the genetic and cellular changes in pathways and processes thought to be involved in ASD, and eventually may help lead to potential therapies.
October 23, 2014: 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.
September 23, 2014: 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 of charge.
September 11, 2014: 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.
August 27, 2014: 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.
August 27, 2014: 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.
August 26, 2014: 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.
August 21, 2014: 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.
August 1, 2014: NIH awards two new grants to explore the understanding of genomics research in Africa Two grants totaling more than $300,000 will support studies on genomic literacy among Africans as it relates to research conducted in Africa by African investigators. The three-year grants are part of the Human Heredity and Health in Africa (H3Africa) program, funded by the National Institutes of Health's Common Fund in partnership with Britain's Wellcome Trust.
August 1, 2014: NIH awards $14.5 million to research groups studying newest DNA sequencing techniques A number of micro-sized technologies - such as nanopores and microfluidics - are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National Institutes of Health. The grants, which total approximately $14.5 million to eight research teams over two to four years as funds become available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome Research Institute (NHGRI), a part of NIH.
August 1, 2014: Genotype-Tissue Expression project expands functional studies of genomic variation The National Institutes of Health has awarded eight grants as part of the Genotype-Tissue Expression (GTEx) project to explore how human genes are expressed and regulated in different tissues, and the role that genomic variation plays in modulating that expression. The GTEx awards will contribute to a resource database and tissue bank that researchers can use to study how inherited genomic variants - inherited spelling changes in the DNA code - may influence gene activity and lead to disease. The grants will add data from analyses of tissue samples whose collection began in 2010, as well as expand the resource database and tissue bank.
July 23, 2014: TCGA researchers identify four subtypes of stomach cancer Stomach cancers fall into four distinct molecular subtypes researchers with The Cancer Genome Atlas (TCGA) Network have found. In the study, published online July 23, 2014, in Nature, the scientists report that this discovery could change how researchers think about developing treatments for stomach cancer, also called gastric cancers or gastric adenocarcinomas.
July 9, 2014: Study identifies novel genomic changes in the most common type of lung cancer Researchers from The Cancer Genome Atlas (TCGA) Research Network have identified novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic targets for this disease and potentially identify a greater number of patients with treatable mutations because many potent cancer drugs that target these mutations already exist.
July 7, 2014: NIH funds next step of cutting-edge research into Alzheimer's disease genome Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical letters in a cell's DNA-may contribute to increased risk or protect against the disease. The NIH awarded grants for using innovative new technologies and computational methods for the analysis. The scientists also will seek insights into why some people with known risks do not develop the disease.
July 1, 2014: NIH names new clinical sites in Undiagnosed Diseases Network
The National Institutes of Health has awarded grants to six medical centers around the country to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions.
June 27, 2014: MEDIA AVAILABILITY: New approach may improve study of hard-to-grow, disease-related microorganisms Researchers for the first time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of trillions of microbes in the human microbiome. The new method has broad applications for isolating and studying many now impossible or hard-to-grow microorganisms implicated in health and disease, according to a study published online the week of June 23, 2014, in the Proceedings of the National Academy of Sciences.
June 18, 2014: New report offers a primer for doctors' use of clinical genome and exome sequencing Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses-particularly rare childhood diseases-is moving from research laboratories into general medical practice. Now, two leading scientists have sketched out what doctors need to know in order to use the new technology effectively.
May 19, 2014: Media Availability: New approach to analyzing tumor genome promises expanded results Researchers have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA sequence information from cancer patients. They have developed an algorithm that sorts out genomic mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. The findings eventually may help guide individualized patient treatment or enrollment in clinical trials that test a therapy aimed at a particular genomic alteration.
March 20, 2014: Researchers discover underlying genetics, marker for stroke, cardiovascular disease Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.
February 19, 2014: NIH team discovers genetic disorder causing strokes and vascular inflammation in children National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants of the same gene in patients with a similar type of blood vessel inflammation.
January 29, 2014: TCGA bladder cancer study reveals potential drug targets, similarities to several cancers Investigators with The Cancer Genome Atlas (TCGA) Research Network have identified new potential therapeutic targets for a major form of bladder cancer, including important genes and pathways that are disrupted in the disease. They also discovered that, at the molecular level, some subtypes of bladder cancer - also known as urothelial carcinoma - resemble subtypes of breast, head and neck and lung cancers, suggesting similar routes of development.