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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … cellular processes like autophagy,” said Malicdan. A rare disease that involves changes in one gene can help tease … disorders, such as Alzheimer’s disease. Knowledge of this rare neurological disorder could lead to new avenues of …
News Release
As you celebrate Thanksgiving with your family this November, remember that this special day is also National Family Health History Day.
… with your family this November, remember that this special day is also National Family Health History Day . … Family … is important to your health and can help you detect unique disease risks and manage them before becoming sick, or find … the right diagnosis and treatments when you have a certain disease. Collecting and acting on your family health history …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. … a good fit for me, and I was hoping to help patients with rare disorders. … Soo: What was it like growing up in … lead to clinical trials and decrease the burden of disease of our patients. … Soo: What are some difficulties in …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
News Release
As you celebrate Thanksgiving with your family, remember that this special day is also National Family Health History Day.
… Thanksgiving with your family, remember that this special day is also National Family Health History Day. … Family health history is important to your health . It can help you detect disease risks that are unique to your family and take steps …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … The Department of Health and … possible treatments for people suffering from unknown and rare genetic conditions. Bill Gahl, M.D, Ph.D., Senior … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man … National Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of … - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a … 5. … Cri Du Chat Syndrome,genetic Condition, Rare Disease, Chromosome 5 … Cri du chat syndrome is a rare …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … infections. Still, even at a cost of less than 50 cents a day, such drugs remain too expensive for many poor people. In … (NIH) launched an effort, called the Therapeutics for Rare and Neglected Diseases (TRND) , program, to create an …
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.
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … We have known for a … disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle …