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 …
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 …
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
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 …