Search Results
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 …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … Basic research exploring human and nonhuman … is being applied to research on cancer, mental health, rare diseases, and many other disease areas.​ ​ … Genome …
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… community will celebrate a yearly highlight - National DNA Day. On this day, students, teachers, and the public are engaged and … (or SNP) associations related to human health and disease. It is maintained through a partnership between NHGRI …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … information to help understand the cause of extremely rare diseases," said Anastasia L. Wise, Ph.D., program … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …