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World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia
Landmark study from CHOP and Penn Medicine showcases the power of customized gene editing therapy to treat patient with rare metabolic disease.
CHOP, Penn Medicine Researchers Use Deep Learning Algorithm to Pinpoint Potential Disease-Causing Variants in Non-Coding Regions of the Human Genome
The methods help identify “footprints” that indicate binding sites and reveal variants that could increase risk for a variety of common diseases.
CHOP Study: The Impact of Receptor Agonists on Pediatric MASLD
CHOP research: GLP-1 RAs may be powerful treatment option for pediatric patients with metabolic dysfunction-associated steatotic liver disease and type 2 diabetes.
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.
$14M NIH grant funds gene-editing research for rare metabolic diseases at Penn and CHOP
Researchers aim to develop personalized therapies for urea cycle disorders and other genetic conditions using advanced CRISPR technology.
Multi-Institutional Study Led by Children’s Hospital of Philadelphia Identifies Several Disease-Causing Genes Outside of Primary Diagnoses
Hundreds of variants in “secondary finding” genes could guide treatment for patients to avoid risks and complications of health issues in adulthood.
Children’s Hospital of Philadelphia Researchers Report Encouraging First Evidence of Effective New Gene Therapy to Treat Multiple Sulfatase Deficiency
The ex vivo gene therapy improved sulfatase production and reduced symptoms associated with the disease in preclinical models
Children’s Hospital of Philadelphia, Penn Medicine Researchers Report High-Throughput Variant Re-Classification for Alagille Syndrome Disease Gene
Findings will help provide more accurate diagnoses to families.
Children’s Hospital of Philadelphia Researchers Develop Antioxidant Strategy to Address Mitochondrial Dysfunction Caused by SARS-COV-2 Virus
Preclinical data suggests a new strategy for treating complex cases of COVID-19 independent of mutations and variants.