September 30, 2015: Scientists create world's largest catalog of human genomic variation An international team of scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease and other disorders. Understanding how genomic variants contribute to disease may help clinicians develop improved diagnostics and treatments, in addition to new methods of prevention.
September 21, 2015: Grants to help identify variants in the genome's regulatory regions that affect disease risk Six new grants from the National Institutes of Health (NIH) will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for three years each and total approximately $13 million, pending the availability of funds. They are administered by the National Human Genome Research Institute and the National Cancer Institute, both parts of NIH.
September 16, 2015: Undiagnosed Diseases Network launches online application portal The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health, has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose despite extensive clinical investigation.
September 1, 2015: NIH grants seek best ways to combine genomic information and EHRs A dozen awards from the National Institutes of Health will support research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences. The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase of the eMERGE program, and focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person's health, and might affect treatment choices.
August 13, 2015: New research reveals unintended consequences of inappropriate medical food use in managing patients with a type of metabolic disorder In two studies appearing online August 13, 2015 and in the August issue of Genetics in Medicine, researchers note that medical foods, including those given to patients with methylmalonic acidemia (MMA), are not subject to the same scrutiny as therapeutic drugs. A medical food, as defined in the Orphan Drug Act of 1983, is regulated as a food by the Food and Drug Administration and intended to be used under medical supervision.
June 5, 2015: A new role for zebrafish: larger scale gene function studies A relatively new method of targeting specific DNA sequences in zebrafish could dramatically accelerate the discovery of gene function and the identification of disease genes in humans, according to scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. In a study posted online on June 5, 2015, and to be published in the July 2015 issue of Genome Research, the researchers reported that the gene-editing technology known as CRISPR/Cas9 is six times more effective than other techniques at homing in on target genes and inserting or deleting specific sequences.
June 4, 2015: NIH researchers pilot predictive medicine by studying healthy people's DNA A new NIH study has turned traditional genomics research on its head. Instead of trying to find a mutation in the genomic sequence of a person with a genetic disease, researchers sequenced the genomes of healthy participants and analyzed the data to find presumed mutations that would almost certainly lead to a genetic condition. Results were published today in the American Journal of Human Genetics.
May 7, 2015: 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.
March 27, 2015: 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.
March 5, 2015: 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.
February 17, 2015: 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.
January 28, 2015: 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.
January 20, 2015: NIH researchers tackle thorny side of gene therapy National Institutes of Health researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human Genome Research Institute (NHGRI), part of NIH, published their research in the Jan. 20, 2015, online issue of the Journal of Clinical Investigation.
January 5, 2015: NIH grants aim to decipher the language of gene regulation The National Institutes of Health has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off. These awards emanate from the recently launched Genomics of Gene Regulation (GGR) program of the National Human Genome Research Institute (NHGRI), part of NIH.