Search Results
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… can affect many different parts of the body, including the immune system and its ability to respond to infection. Therefore, we … how Inborn Errors of Metabolism affect the function of the immune system. … A Longitudinal Natural History Study of …
Event
On September 6, 2023, NHGRI hosts a pre-application webinar for the genomics-enabled learning health systems (gLHS) NOFOs.
… of genomic information in a virtuous learning health system cycle of implementation, evaluation, refinement and …
Event
On August 31 - September 1, 2022, the National Human Genome Research Institute (NHGRI) will sponsor its 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems. Â
…  Genomic Medicine Implementation in the VA Healthcare System (15 min) Jason Vassy  Discussion (45 min) 1:10 p.m. … S. Williams  Scaling the Genomics Enabled Learning Health System to Optimize Research and Clinical Care (15 min) Geoff …
News Release
An ancient, sexually transmitted dog cancer may provide insights into human cancers because of the similarities in the dog and human immune systems.
… cancers because of the similarities in the dog and human immune systems - has baffled researchers until now. Canine … discovered genetic mutations that prevented the dogs' immune systems from detecting and fending off invading cancer … modified so that it could escape the host dog's own immune system," said Elaine Ostrander, Ph.D., chief of the Cancer …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… for understanding how hosts respond to pathogens and other immune challenges, such as vaccination.   Studies of human … these pathways and to elucidate basic mechanisms of immune responses. To this end, the Schwartzberg group has … into the mechanistic workings of lymphocytes in the immune system. Specific projects: Tec Kinases: Through the …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic … that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme … with Tay-Sachs is three or four years old, the nervous system is so badly affected that death usually results by age …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… feedback loop creates a balance between the two types of immune cells, TFH and Th1. If the balance is lost, Dr. … to produce sufficient antibodies--is linked to primary immune deficiency in many people. On the other hand, in … in the bloodstream. ​ … TCF1, T cell factor-1, immune system, antibodies, transcription factor, Pamela …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… osteomyelitis, CRMO, NIH Clinical Center, inflammation, immune system, TNF inhibitor, Dan Kastner, Kalpana Manthiram … …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… Dr. Peter McGuire in the MINI Section at NHGRI focuses on immune phenotyping of mitochondrial disease to better …