New techniques were utilized to recreate the goals of a natural history study of rare diseases in a fraction of the time.

MMFP-Tableau offers a readily generalizable solution to make research and clinical electronic health system data more accessible and impactful.

The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.

Quick-Mitome, developed by an international consortium of mitochondrial disease specialists, is available for non-commercial, non-clinical research.

The study also found that increased fat and protein intake may improve muscle strength and quality of life in patients with mitochondrial disease.

Children’s Hospital of Philadelphia (CHOP) has received a $6.4 million gift from the family of Connor Boyle, a Central Bucks East High School graduate who died at age 18 from osteosarcoma. This three-year gift, named The Connor Initiative: Precision Therapeutics for Osteosarcoma & Rare Cancers, will support cutting-edge research in osteosarcoma and other rare cancers.

This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.

Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.

While mitochondrial function recovered in the lungs, function did not recover in the heart and other organs, leading to long-term damage and a possible explanation for detrimental effects of “long COVID”.

Translational findings in new models of SURF1 mitochondrial disease also suggest that two drugs, already FDA-approved for other conditions, may prevent neurological decompensation in Leigh syndrome patients.