Search Results
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. … your skeletal genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. …
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. … 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 …
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 … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe transmitted by … Specific prevention strategies vary from disease to disease. But experts agree that a good way to head …
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. … is important to your health . It can help you detect disease risks that are unique to your family and take steps … Thanksgiving with your family, remember that this special day is also National Family Health History Day. …
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. … have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle …
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 … small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown. …
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 … lives and what the future holds. This year's National DNA Day features an exciting assortment of online and in-person … (or SNP) associations related to human health and disease. It is maintained through a partnership between NHGRI …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Parkinson's disease (PD) is a neurological condition that typically … We found the gene that caused their inherited Parkinson's Disease and it coded for a protein called alpha-synuclein. If …
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. … to help scientists understand the basic biology underlying disease, as well as to discover new possible therapeutic …  (traits). A typical study might be to model human disease in mice by deleting or editing certain genes that are …
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 … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … child at a younger age and initiate treatment early in the disease process. This genetic test for Hutchinson-Gilford …