On Saturday, February 22, 2025, Children's Hospital of Philadelphia (CHOP) hosted Cheers for CHOP, presented by Calvin Schmidt and family, at The Fillmore. The event benefitted rare disease research at CHOP, where rare cases are not so uncommon. Every dollar of the $745,000 (and counting!) raised will help our teams continue their work of translating rare disease research into more precise and personalized care for patients with some of the most complex medical cases.

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel gene therapy with potentially increased effectiveness and safety for the treatment for metachromatic leukodystrophy (MLD), a rare disease in young children characterized by the deficient activity of a critical enzyme. Without effective treatment, MLD leads to rapidly declining neurological skills in young children and is potentially fatal. The promising findings were published in the journal Molecular Therapy Nucleic Acids.

Children’s Hospital of Philadelphia (CHOP) researchers successfully reduced the number of youths needing to be admitted to psychiatric facilities through a stabilization protocol designed to address psychiatric boarding, the practice of maintaining patients with psychiatric emergencies in the Emergency Department (ED) or other temporary settings due to a lack of available inpatient psychiatric beds. The report was published recently in the journal Pediatrics.

Microaggressions – brief and commonplace interactions that intentionally or unintentionally communicate insults and derogatory sentiments towards people of marginalized backgrounds – can happen anywhere.

Researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated how trochlear anatomy evolves during pediatric development with and without recurrent patellofemoral instability (PFI), a condition where the kneecap repeatedly slips out of its groove, causing pain, swelling and difficulty with physical activity. The findings, recently reported in a landmark study in the American Journal of Sports Medicine, highlighted that PFI in growing children worsens trochlear dysplasia, which can result in further kneecap instability, while those without PFI experienced natural improvements.

Heart transplant policies underwent significant changes in 2016 and 2018, altering how hearts are allocated to patients waiting for a transplant. These changes aimed to improve survival rates and outcomes for patients on the transplant waitlist by prioritizing those with the most pressing needs. In a recent study in Circulation, researchers at Children’s Hospital of Philadelphia (CHOP) reviewed the outcomes and found some patient groups benefitted from the allocation updates, while others did not experience the same level of improvement.

In a preclinical study, researchers at Children’s Hospital of Philadelphia (CHOP) demonstrated a novel treatment strategy for patients with Fanconi anemia (FA), a rare genetic disease resulting in loss of blood-forming stem cells in the bone marrow. The researchers successfully used in situ mRNA delivered directly into the body by lipid nanoparticles (LNPs) to target bone marrow cells and transiently restore stem cell function in patients with FA.

Researchers at Children’s Hospital of Philadelphia (CHOP) recently reviewed best practices, guidelines, and care path objectives for early-onset sepsis (EOS), an invasive bacterial or fungal infection that occurs in infants within the first week of life and can be fatal. Their recommendations were recently published in Clinics in Perinatology.

An interprofessional team at Children’s Hospital of Philadelphia is transforming CHOP’s approach to fetal medicine through a first-of-its-kind data integration platform. The Clinical Outcomes Data Archive (CODA) platform offers clinicians real-time data to help inform earlier interventions and treatment strategies in CHOP’s Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT). A paper outlining CODA’s benefits, applications and potential broader impact was recently published in the journal Fetal Diagnosis and Therapy.

Researchers at Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania unlocked important new insights in how the immune system selects the right signals to alert T cells, a vital step in the prevention and treatment of serious illness. The findings were published in the journal Proceedings of the National Academy of Sciences (PNAS).