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Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … are found in nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… (MINI) Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … As you may know, the therapies that …
Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.
… Mitochondrial DNA … Mitochondrial DNA is the small circular chromosome found inside mitochondria. … Mitochondrial DNA, Mitochondria, Cell Biology, Inheritance … Mitochondrial DNA is the circular chromosome found inside the …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryx™ fingerstick at-home sampling.
… the role of viral infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … and biomarkers of the immune system in people with mitochondrial disease by using the Neoteryx ™ …
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.
… One of the first human studies on how mitochondrial function impacts immune cells to guide future … found that altered B cell function in children with mitochondrial disorders led to a weaker and less diverse … to study how B cells are affected in mitochondrial disease by looking at human patients,” said Eliza …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… Pandemic (At-home Participation) … Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic and immune differences in individuals with mitochondrial disease when they have an infection. Our goal …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… … A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune … response. … Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …