NIH completes in-depth genomic analysis of 33 cancer type
Bethesda, Md., Thur., April 5, 2018 - Researchers funded by the National Institutes of Health (NIH) have completed a detailed analysis on over 10,000 tumors from 33 forms of cancer from a dataset containing molecular and clinical information. Known as the Pan-Cancer Atlas, and published as a collection of 27 papers across a suite of Cell journals, this analysis empowers cancer clinicians and researchers through a comprehensive understanding of how, where and why tumors arise in humans. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - April 5, 2018 Category: Genetics & Stem Cells Source Type: news

---
Bethesda, Md., Thur., April 5, 2018 - Researchers funded by the National Institutes of Health (NIH) have completed a detailed analysis on over 10,000 tumors from 33 forms of cancer from a dataset containing molecular and clinical information. Known as the Pan-Cancer Atlas, and published as a collection of 27 papers across a suite of Cell journals, this analysis empowers cancer clinicians and researchers through a comprehensive understanding of how, where and why tumors arise in humans. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - April 5, 2018 Category: Genetics & Stem Cells Source Type: news

Remembering a genomics champion, Rep. Louise Slaughter
Bethesda, Md., Thur., March 16, 2018 - Today, Rep. Louise M. Slaughter (D-N.Y.), author of the Genetic Information Nondiscrimination Act of 2008 (GINA), passed away at the age of 88. Rep. Slaughter was a strong advocate for genomics research, and her work on GINA helped create protections against genetic discrimination in employment and health insurance. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - March 16, 2018 Category: Genetics & Stem Cells Source Type: news

NIH pilot project will match researchers to genes, gene variants of interest
Bethesda, Md., Thur., March 1, 2018 - The National Institutes of Health and Inova have launched a new match-making service between genes and gene variants and the researchers who study them. The Genomic Ascertainment Cohort (TGAC) project will be based in the Washington, D.C., area so that researchers can recall genotyped participants to examine the genes and gene variants that influence their phenotype. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - March 1, 2018 Category: Genetics & Stem Cells Source Type: news

Developing a 2020 vision for genomics: NHGRI launches new round of strategic planning
Bethesda, Md., Mon., February 12, 2018 - The National Human Genome Research Institute (NHGRI) today launched a new round of strategic planning that will establish a 2020 vision for genomics research aimed at accelerating scientific and medical breakthroughs. In developing the strategic plan, the institute will engage experts and diverse public communities to identify paradigm-shifting areas of genomics that will expand the field into new frontiers and enable novel applications to human health and disease. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 12, 2018 Category: Genetics & Stem Cells Source Type: news

The Human Genome Project is awarded the Thai 2017 Prince Mahidol Award for the field of medicine
Bethesda, Md., Thur., February 1, 2018 - The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine. The award will be received on behalf of the project by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), and the institute responsible for leading NIH's effort in the project. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 1, 2018 Category: Genetics & Stem Cells Source Type: news

NIH to host a Reddit "Ask Me Anything" on the ethical, legal and social implications of genomics research
Bethesda, Md., Thur., January 23, 2018 - On Monday, Jan. 29, 2018, the National Institutes of Health will hold a Reddit "Ask Me Anything" (AMA) with experts from NHGRI's Ethical, Legal and Social Implications research program to discuss a variety of topics ranging from how diverse communities receive equitably the benefit of genomics, or how your genome can be used to discriminate against you and the protections to ensure that doesn't happen. The media and the public are invited. A link to submit questions will be available at 8 a.m., Jan. 29th. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - January 23, 2018 Category: Genetics & Stem Cells Source Type: news

NIH to host a Reddit "Ask Me Anything" with CRISPR scientist, Dr. Jennifer Doudna
Bethesda, Md., Thur., January 11, 2018 - NIH is holding a Reddit "Ask Me Anything" (AMA) with Jennifer Doudna, Ph.D., and her research group, along with the National Human Genome Research Institute (NHGRI) Centers for Excellence in Genomic Science (CEGS) program directors. They will answer questions about her research, her new center, and the CEGS program. Members of the media and public are invited to ask questions, or follow along with the conversation during the Reddit AMA. . (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - January 11, 2018 Category: Genetics & Stem Cells Source Type: news

NIH completes atlas of human DNA differences that influence gene expression
Bethesda, Md., Wed., October 11, 2017 - Researchers from the Genotype-Tissue Expression (GTEx) Consortium, funded by the National Institutes of Health (NIH), have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives rise to an observable trait, like hair color or disease risk. This atlas is a critical resource for the scientific community interested in how individual genomic variation leads to biological differences across human tissues and cell types. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - October 11, 2017 Category: Genetics & Stem Cells Source Type: news

New regions of the human genome linked to skin color variation in some African populations
Bethesda, Md., Fri., September 28, 2017 - In the first study of its kind, an international team of genomics researchers has identified new regions of the human genome that are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. These findings may help researchers determine if humans with certain DNA sequences are more or less susceptible to DNA damage caused by ultraviolet radiation (UVR) or respond to cellular stress differently. National Institutes of Health researchers contributed to this effort, led by Sarah Tishkoff, Ph.D., ...
Source: NHGRI Press Releases - September 28, 2017 Category: Genetics & Stem Cells Source Type: news

New toolkit helps nurses use genomics in patient care
Bethesda, Md., Tues., September 19, 2017 - Nurses and other health professionals looking to integrate genomics into patient care now have access to an online toolkit with more than 100 resources, part of a new website launched by the National Human Genome Research Institute. Developed with input from clinical educators and administrators, The Method for Introducing a New Competency in Genomics (MINC) website provides resources for nursing leaders at all levels of genomics competency, ranging from basic knowledge about genomics to its practical impact on healthcare systems and policies. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - September 19, 2017 Category: Genetics & Stem Cells Source Type: news

Sequencing all 24 human chromosomes uncovers rare disorders
Bethesda, Md., Thur., August 30, 2017 - Non-invasive prenatal screening is one of the great success stories of genomics research. Now, a new NHGRI study has found that extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities in fetal growth. This approach may also reduce false positive results for Down syndrome and other common conditions. Findings were published online today, August 30, in Science Translational Medicine. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 30, 2017 Category: Genetics & Stem Cells Source Type: news

NIH to host workshop on advances, future needs in human microbiome research
Bethesda, Md., Thur., August 10, 2017 - Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The ten-year, National Institutes of Health (NIH) Common Fund Human Microbiome Project was established to understand how microbial communities impact human health. On August 16-18, 2017, NIH will host a workshop, The Human Microbiome: Emerging Themes at the Horizon of the 21st Century, to share the latest research on the human microbiome, and to evaluate what is needed to advance this field over the next decade. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 10, 2017 Category: Genetics & Stem Cells Source Type: news

NIH accelerates the use of genomics in clinical care
Bethesda, Md., Tue., August 8 2017 - The National Institutes of Health (NIH) is awarding $18.9 million towards research that aims to accelerates the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in healthcare settings that extend beyond academic medical centers. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 8, 2017 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 6, 2017 Category: Genetics & Stem Cells Source Type: news

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 journalObesity. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - March 13, 2017 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 2, 2017 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - October 27, 2016 Category: Genetics & Stem Cells Source Type: news

NIH researchers unveil new wound-healing role for protein-folding gene in mice
Bethesda, Md., Mon., August 22, 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. The study found that topical treatment of an Hsp60-containing gel dramatically accelerates wound closure in a diabetic mouse model. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - October 26, 2016 Category: Genetics & Stem Cells Source Type: news

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 theEunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct....
Source: NHGRI Press Releases - October 26, 2016 Category: Genetics & Stem Cells Source Type: news

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 theProceedings of the National Academy of Sciences. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 22, 2016 Category: Genetics & Stem Cells Source Type: news

Researchers advance treatment possibilities for Gaucher, Parkinson & #39;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 inThe Journal of Neuroscience. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 12, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 12, 2016 Category: Genetics & Stem Cells Source Type: news

< em > Media Availability < /em > : 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 journalNature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 11, 2016 Category: Genetics & Stem Cells Source Type: news

< em > Media Availability < /em > : 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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 11, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - July 11, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - May 17, 2016 Category: Genetics & Stem Cells Source Type: news

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 ...
Source: NHGRI Press Releases - April 29, 2016 Category: Genetics & Stem Cells Source Type: news

MNIH 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 ...
Source: NHGRI Press Releases - April 29, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - April 11, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - April 11, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 5, 2016 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - February 3, 2016 Category: Genetics & Stem Cells Source Type: news

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 ra...
Source: NHGRI Press Releases - January 14, 2016 Category: Genetics & Stem Cells Source Type: news

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 de...
Source: NHGRI Press Releases - September 30, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - September 21, 2015 Category: Genetics & Stem Cells Source Type: news

---
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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - September 21, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - September 16, 2015 Category: Genetics & Stem Cells Source Type: news

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...
Source: NHGRI Press Releases - September 1, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - August 13, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - June 5, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - June 4, 2015 Category: Genetics & Stem Cells Source Type: news

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. (Source: NHGRI Press Releases)
Source: NHGRI Press Releases - June 4, 2015 Category: Genetics & Stem Cells Source Type: news

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