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
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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
