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Children’s Hospital of Philadelphia’s First FDA Approved Gene Therapy Patient for Severe Beta Thalassemia Celebrates Two Year Treatment Anniversary
Patient no longer needs regular blood transfusions for her inherited blood disorder, and her future has been transformed.
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.
First Patients at CHOP Begin Newly Approved Sickle Cell Gene Therapies
CHOP announced that its first patients outside of clinical trials have begun the treatment process for the newly FDA approved sickle cell gene therapies.
The Late Dr. Kwaku Ohene-Frempong Portrait Unveiling
The life and legacy of the late Dr. Kwaku Ohene-Frempong was celebrated by family, friends and colleagues at his portrait unveiling ceremony on CHOP’s campus on June 20.
Cure Sickle Cell Walk & Family Fun Day Presented by West Pharmaceutical Services Raises More Than $256,000 for Sickle Cell Disease Research and Care
Earlier this month, Children’s Hospital of Philadelphia (CHOP) hosted the Cure Sickle Cell Walk & Family Fun Day presented by West Pharmaceutical Services at Citizens Bank Park raising more than $256,000 (and counting!) to support sickle cell warriors.
Researchers Publish Final Results of Key Clinical Trial for Gene Therapy for Sickle Cell Disease
In a landmark study, an international consortium led by researchers at CHOP published the final results of a key clinical trial of the gene therapy CASGEVY for the treatment of sickle cell disease.
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.