Search Results
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… is generally no effective treatment due to the severe brain involvement and inability of current therapies to cross the blood-brain barrier. Life expectancy is usually less than 2 years. …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… example, pediatric mitochondrial disease often affects the brain, which may cause children to experience movement …
Media Advisory
The NIH-funded Integrative Human Microbiome Project presented at the International Human Microbiome Congress.
… genomics and disease risk prediction; the microbiome and brain function and neurological diseases; and the use of …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… else. She has a disease that attacks nerve cells in the brain, rendering them useless, one by one. When Jojo was … functioning copies of the defective GLB1 gene to the cat's brain cells. Viruses are ambitious. They try to take over … The cats finish developing at eight weeks, but Jojo's brain continues to develop until she is 18 years old. I'm …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other patients had …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (a blood clot that forms in a blood vessel of the brain), embolic stroke (stroke caused by a blood clot that … travels from a different location to a blood vessel in the brain) can also occur. Multiple strokes can sometimes lead to …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… are known to affect organs such as the heart, liver, and brain, less is known how they affect the immune system. Using …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… and body. Having too much phenylalanine can cause brain damage unless diet treatment is started. Additional …
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… and rare genetic variations impact the development of the brain, metabolism, and behavior through the lifespan. We also …