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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … The goal of the study, published March 23, 2017, in the American Journal of Medical Genetics , is to help healthcare … young boy undergoes facial recognition software analysis for a possible diagnosis of DiGeorge syndrome, a rare …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… Center (GARD) was created in 2002 by the National Human Genome Research Institute (NHGRI) and the Office of … a genetic or rare disease and who need information for their research have contacted GARD, as have people who … Community leaders looking to help people find resources for those with genetic or rare diseases and advocacy groups …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… tens of thousands of microbial species that live in or on human beings - the human microbiome - they would find therapies for a host of diseases. As it turned out, the problem isn't … so that other scientists can use the results for their own research into the role of the microbiome in …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… Genetics Residency Program is a remarkable opportunity for medical school graduates to complete a combined, … to Medical Genetics; Developmental Biology and Human Malformations; Inborn Errors of Metabolism; and Current … by both the Amercan Board of Pediatrics (ABP) and the American Board of Medical Genetics (ABMG). … Rotation Sites …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… … NHGRI's 2020 Strategic Vision describes opportunities in human genomics for improving human health. … The National Human Genome … Health (NIH), this week published its “ Strategic vision for improving human health at The Forefront of Genomics ” in …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… lies on that chromosome. … Among the main goals of the Human Genome Project (HGP) was to develop new, better and … have been used successfully to find the gene responsible for relatively rare, single-gene inherited disorders such as … of the entire human genome, has greatly advanced genetics research. The improved quality of genetic data has …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… era in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National … working with smaller pieces, each contains less context for figuring out where it came from, especially in parts of … methods will continue to create new opportunities in human genetics and genomics. … Additional Resources … About NHGRI …
For Patients and Families
Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.
… Genetic research is creating new ways for people to take action and prevent disease and new ways to … Initiative . This goal of this campaign is to have all American families learn more about their family health … How do I find a genetic professional? … Can knowing about genetics help treat disease? … How is genetic information …
Event
The National Museum of African American History and Culture presented an insightful conversation about advancements in genetic research and its implications for understanding race.
… was made possible by contributions from the Foundation for the National Institutes of Health and support from the National Human Genome Research Institute. … Virtual … Historically … Race, DNA, And Demography … The National Museum of African American History and Culture presents an insightful …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … their findings in the September 2017 issue of the American Journal of Medical Genetics . … While Noonan … separately, as opposed to evaluating everyone together. For example, when they looked at Africans or Asians …