KJ Stepping into the Holidays After a Milestone Year
Dec 17, 2025
KJ is celebrating a big year after becoming the first patient in the world to receive a personalized CRISPR gene editing therapy to treat his rare disease.
Division of Human Genetics News
Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.
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Children’s Hospital of Philadelphia Recognizes Seven CHOP Physicians Selected to Join the American Pediatric Society in 2026
Nov 13, 2025
Children’s Hospital of Philadelphia (CHOP) announced that seven of its physicians and researchers were among the 92 new members selected to join the American Pediatric Society (APS), one of North America's first and most prestigious academic pediatric organizations.
Children’s Hospital of Philadelphia Researchers Find Promising Preclinical Data for Expanding Use of Drug for Primary Mitochondrial Diseases
Aug 19, 2025
Researchers found that a new drug therapy currently in clinical trials for a form of primary mitochondrial disease – Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome – was safe and effective in multiple preclinical zebrafish models.
World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia
May 15, 2025
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
Apr 17, 2025
The methods help identify “footprints” that indicate binding sites and reveal variants that could increase risk for a variety of common diseases.
Children’s Hospital of Philadelphia Researchers Characterize Spectrum of Causes and Symptoms of Mitochondrial DNA Deletion Rare Diseases
Feb 24, 2025
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
Dec 12, 2024
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
Oct 10, 2024
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
Sep 27, 2024
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
Sep 4, 2024
The ex vivo gene therapy improved sulfatase production and reduced symptoms associated with the disease in preclinical models