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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 … Project is a worldwide effort to understand how the human genome functions. With the completion of its latest … in the body and govern their functioning in health and disease. During the recently completed third phase of ENCODE, …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… Jeannine Mjoseth … In the first study of its kind, researchers explored patients', parents' and … the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … expressed overall optimism about participating in human genome editing clinical trials, but were concerned …
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.
… M.D., Ph.D. … 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 … and accomplishments from the institute and the field of genomics. … The human microbiome is the collection of all …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
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.
… Jeannine Mjoseth … 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 …
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. … (UDP) was organized and established by the National Human Genome Research Institute (NHGRI), the National … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
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 …
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 …
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 …