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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 Find That Both Neurotypical and Autistic Girls Smile More
Study adds to evidence on the importance of accounting for the impact of sex and gender differences on social impressions of autistic youth.
Rates of ADHD Remain High into Adulthood Among Patients with Autism
The first population-based, national cohort study found ADHD rates are 10 times higher than the general population among adults with autism without intellectual disability.
Children’s Hospital of Philadelphia Researchers Reveal Important Themes to Improve Interactions Between Police and Black Autistic Youth
Novel study emphasizes the need for improved training to recognize key behavior differences in this patient population
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 Study Finds Healthcare Providers Play Crucial Role in Guiding Autistic Adolescents and Their Families into Adulthood
The study identified obstacles like limited time during clinical visits, a lack of comprehensive resources, and insufficient notice from caregivers to prepare for discussions.
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.