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Children’s Hospital of Philadelphia Researchers Characterize Spectrum of Causes and Symptoms of Mitochondrial DNA Deletion Rare Diseases
New techniques were utilized to recreate the goals of a natural history study of rare diseases in a fraction of the time.
Children’s Hospital of Philadelphia Researchers Develop Automated Tool for Integration and Analysis of Electronic Medical Record Data for Complex Rare Disease Patients
MMFP-Tableau offers a readily generalizable solution to make research and clinical electronic health system data more accessible and impactful.
CHOP Researchers Develop Method for Integrating Patient-Reported Outcomes for Patients with Primary Mitochondrial Disease
The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.
Web-Based Resource Provides Precise Classification of Dual Genome Variants of Primary Mitochondrial Disease
Quick-Mitome, developed by an international consortium of mitochondrial disease specialists, is available for non-commercial, non-clinical research.
CHOP Researchers Find About a Quarter of Mitochondrial Disease Patients Suffer from Malnutrition
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 Receives Multi-Million Dollar Gift from Holveck Family to Support Groundbreaking Osteosarcoma Research
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.
CHOP Researchers Develop Novel Method Using MRI to Study Diseases Modeled in Zebrafish
This initial study found evidence linking changes in organ development with symptoms seen in certain human mitochondrial diseases.
CHOP Researchers Lead International Expert Panel, Curating Evidence for Over 100 Genes Causing Leigh Syndrome Spectrum
Forty researchers met regularly over four years to determine which genes have the strongest link to the most common pediatric form of mitochondrial disease.
Multidisciplinary Task Force Develops Clinical Recommendations for Rare, Life-Threatening Hyperinflammatory Syndromes
Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) are overlapping hyperinflammatory syndromes that involve disorganization and malfunction of the immune system, leading to widespread inflammation and organ damage. The conditions can progress rapidly, making early identification and management key for preventing organ failure and death.
Researchers Find COVID-19 Causes Mitochondrial Dysfunction in Heart and Other Organs
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”.