Poorly working mitochondria — small energy-producing cell compartments — may drive muscle weakness or wasting in a new mouse model of porphyria, a study suggests. “In some cases, muscle atrophy [is] […]
New research leads to understanding of why mutations in a gene leads to mitochondrial disease
Monash University researchers have uncovered for the first time the reason mutations in a particular gene lead to mitochondrial disease. The finding, published in PNAS journal and led by Professor Mike Ryan from Monash […]
How Covid-19 is changing rare diseases research
While Covid has made many aspects of living with a rare disease more difficult, it has inspired policies and techniques that could help rare disease research progress more smoothly both […]
Researchers find effective combination of therapies for managing mitochondrial disease
Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies CHILDREN’S HOSPITAL OF PHILADELPHIA […]
Pediatric mitochondrial disease and COVID-19 FAQ
What is pediatric mitochondrial disease? How does the COVID-19 pandemic affect children with this disease? Click here to read the full article written by Dr. Peter McGuire at the NIH […]
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