Search Results
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 … facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The … early interventions and provide better medical care. "Human malformation syndromes appear different in different …
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 …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… blood stem cells to reduce your symptoms of sickle cell disease.  Gene therapies use your own stem cells, while bone … , your stem cells are changed by altering part of your genes. Types of gene therapy include gene addition and gene … complications, treat or prevent symptoms of sickle cell disease. However, this type of gene therapy will neither …
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 …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… (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 … of Funding Opportunity (NOFO). The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and …
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. … to the work were researchers from the National Human Genome Research Institute (NHGRI), the National … affecting the whole body are caused by mutations in genes like OTULIN that are part of a person's innate immunity …
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 … and diabetes. See: Leading Causes of Death [cdc.gov]). All human beings are 99.9 percent identical in their genetic …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and … or other methods. All federally-funded research with human participants such as that supported by NIH must comply … variation, to identify the genetic underpinnings of disease, and to research how genomics can be applied in the …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination …
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. … Candidate, … 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 …