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POLG diseases: Rare genetic conditions that starve cells of energy and afflicted the late Prince of Luxembourg
POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
Threat to son's treatment for rare disease 'agony'
A mother has spoken about her "painful" experience over the potential end to her son's life-enhancing treatment for a rare ...
Mother with rare ALS touts 'miracle drug' that has stopped her disease
Raziel Green, 52, an active runner and mother of two, was diagnosed with a rare form of ALS in 2017. Since starting a clinical trial nearly eight years ago, her symptoms have not gotten any worse.
SHINE13h
Shanghai exhibition welcomes artwork from rare disease patients, including expats
At an event announcing the launch of the exhibition, Zhai Jin, a patient with osteogenesis imperfecta, a genetic bone ...
American Council on Science and Health4d
“Rare” but Not Uncommon: The Hidden Crisis of Rare Diseases
Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...
First responders continue to help young girl with rare disease collecting patches to decorate hospital room
ROCKY HILL, Conn. (WFSB) - First responders continue to meet the request for a young girl with a rare disease. Earlier this ...
For kids with extremely rare diseases, this promising technology provides a lifeline | Opinion
Genetically targeted technologies are built on Nobel Prize-winning science. They represent a scientific “quantum leap” that ...
Cherokee Phoenix3d
Cherokee Nation Rare Disease Task Force outlines recommendations tribe can take to assist those with rare diseases
The Cherokee Nation Health Services Rare Disease Task Force has released a report outlining progress made over the past year ...
Medscape5h
Spain Performs Rare Sixth Kidney Transplant
A Spanish hospital has achieved a rare feat — performing a sixth kidney transplant on a single patient. How did they do it, and what does this mean for the future?
The American Journal of Managed Care1h
Finding Value in Older, Generic Dermatologic Therapies
Elizabeth Jones, MD, FAAD, Thomas Jefferson University Hospitals, highlights the continued relevance of older, generic dermatologic therapies despite the availability of newer, targeted treatments.
Med Device Online6d
A Look At AI-Driven Medtech For Rare Disease Diagnosis
Recent advances in AI, including machine learning, natural language processing, and deep learning models, are transforming ...
Prince Frederik of Luxembourg dies at 22 from rare mitochondrial disease
The prince had PolG disease, a genetic mitochondrial disorder that prevents the body's cells from producing adequate energy.