Search Results
15 Ways Genomics Influences Our World
Genomics is illuminating human and family origins at a level not previously possible.
… Genomics is illuminating human and family origins at a level not previously possible. … your ancestors, both near and distant? Advances since the Human Genome Project allow us to compare genome sequences … among the most common questions that humans ponder. The Human Genome Project produced a reference human genome …
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 … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … early interventions and provide better medical care. "Human malformation syndromes appear different in different …
About Genomics
In 2003, an accurate and complete human genome sequence was finished two years ahead of schedule and at a cost less than the original estimated budget.
… In 2003, an accurate and complete human genome sequence was finished and made available to … scientists and researchers two years ahead of the original Human Genome Project schedule and at a cost less than the … effort to sequence the 3 billion DNA letters in the human genome is considered by many to be one of the most …
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). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics refers to the study of genes and the way that certain traits or conditions are … another. Genomics describes the study of all of a person's genes (the genome). … (See: Learning About Cystic Fibrosis ), Huntington's disease ( Learning About Huntington's Disease ), and …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. … is a laboratory approach used to locate the position of a disease-associated gene on a chromosome. Such a strategy can … known about the role of the gene’s encoded protein in the disease. The technique typically relies on the use of known …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were researchers from the National Human Genome Research Institute (NHGRI), the National …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant.  Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… six new awards fund research to explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … Anastasia Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** …