Search Results
Research Funding
The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… not accept all applicants due to the complex nature of the body and the diseases being investigated. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … The specific goals of UDN are to: (1) improve the level of diagnosis and care …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… In January, NHGRI hosted a workshop as part of our ongoing ‘Genomics2020’ Strategic Planning Process … Variation Identification, Association, and Function in Human Health and Disease.” The workshop included valuable discussions about a … Variation Identification, Association, and Function in Human Health and Disease Workshop” is available . Recent …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… The first such AGBT meeting was held in 2000, when most of the attendees were – in one way or another – busily involved in the Human Genome Project. Having now attended all 21 AGBT general … is gratifying to reflect on the amazing metamorphosis of genomics over the last two decades, especially with respect …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The … study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … and Skin Diseases and the Center for Research on Genomics and Global Health. Your browser does not support …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … the disease, especially in diverse populations. The goal of the study, published March 23, 2017, in the American …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… offers new insights into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) Project is a worldwide effort to understand how the human genome functions. With the completion of its latest … creates an encyclopedia detailing the inner workings of the human and mouse genomes …
Infographic
An infographic that explains why it was so difficult to fully complete the human genome sequence.
… Why was it so difficult to fully complete the human genome sequence? The Human Genome Project ended in … had not yet determined every last base (or letter) of the human genome sequence. Instead, they had only completed about 92% of the sequence at that time. Why did they stop there? A …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration of the genome and to help NIH in its mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain … consideration that is especially important to consider for genomics research since genomic information is hereditary and …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … Because mitochondria are found in nearly all cells of the body, children with mitochondrial disease can have … problems, especially in organ systems that require a lot of energy. For example, pediatric mitochondrial disease often …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion of PKD cysts slowly replaces much of the normal mass of the … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is …