Researchers have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome. The findings could serve as the basis for detecting disease-associated variants in a range of common diseases.
Researchers have completed a comprehensive natural history study of SCN8A-related disorders, which represent a spectrum of neurological symptoms. The study, using retrospective clinical information analyzed through novel data analysis methods, revealed a range of seizure types and neurodevelopmental features, and identifies potential targets for future clinical trials.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) developed a longitudinal atlas of neuroblastoma, a common and potentially deadly childhood cancer, to gain deeper understanding into precise molecular mechanisms underlying why and how certain treatments eventually become ineffective.
In a preclinical study, researchers at Children鈥檚 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.
A multi-institutional study is the first to identify one of the allergens responsible for eosinophilic esophagitis (EoE), an inflammatory disease of the esophagus. This is the first time one of the allergens that causes EoE has been identified at a molecular level.
An interprofessional team at Children鈥檚 Hospital of Philadelphia is transforming CHOP鈥檚 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鈥檚 Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment (CFDT). A paper outlining CODA鈥檚 benefits, applications and potential broader impact was recently published in the journal Fetal Diagnosis and Therapy.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania developed a new screening technology, Aptamer-based T Lymphocyte Activity Screening and SEQuencing (ATLAS-seq), to better identify antigen-reactive T cells that are more likely to offer greater immune responses against cancer cells.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) and the University of Pennsylvania Perelman School of Medicine pioneered a first of its kind gene therapy model that offers a potential breakthrough in treating X-linked sideroblastic anemia (XLSA), a rare congenital anemia caused by mutations in the ALAS2 gene crucial for the synthesis of heme, a key compound in hemoglobin.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) and the Children鈥檚 Oncology Group (COG) found that larotrectinib, an oral drug that stops cancer-cell growth, was highly effective in pediatric patients with newly diagnosed infantile fibrosarcoma (IFS) or other solid tumors that have a neurotrophic receptor tyrosine kinase (NTRK) gene fusion without a known acquired resistance mutation. The study, published today in the Journal of Clinical Oncology, is the first COG trial to test precision medicine in a front-line setting across all different types of solid tumors based on a genetic biomarker rather than histology. It is poised to redefine the approach to treatment for newly diagnosed fibrosarcoma and other solid tumors with the NTRK gene fusion, potentially reducing or eliminating the need for these patients to receive chemotherapy.
Researchers found that transmission of rotavirus vaccine strains in a neonatal intensive care unit (NICU) is rare and without clinical consequences, strongly suggesting that giving the rotavirus vaccine to eligible infants during their hospitalization provides immune benefits that outweigh any risks. The findings could serve as the basis for a change in clinical practice.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) and the Children鈥檚 Oncology Group (COG) announced the results of a Phase 3 study that demonstrated adding the bi-specific T-cell engager, blinatumomab, to chemotherapy for newly diagnosed National Cancer Institute (NCI) standard risk (SR) B-cell acute lymphoblastic leukemia (B-ALL) pediatric patients significantly improves survival outcomes. The results were published today in the New England Journal of Medicine and will be presented during the plenary session at the 66th American Society of Hematology (ASH) Annual Meeting & Exposition in San Diego on December 8.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) announced the creation of a new AI technology called CelloType, a comprehensive model designed to more accurately identify and classify cells in high-content tissue images.
The APS will recognize its new members at its Presidential Plenary at the Pediatric Academic Societies 2025 Meeting in April. Current members nominate new members by recognizing individuals who have distinguished themselves as child health leaders, clinicians, policymakers, researchers, scholars and teachers.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) announced encouraging results from the first ever gene therapy trial for Danon disease (DD), a rare, X-linked heart condition caused by a single gene mutation. The phase 1 trial was a collaboration between CHOP and the University of California, San Diego Medical Center, the University of Colorado, Anschutz Medical Center, Boston Children's Hospital and Rocket Pharmaceuticals. The data on the results of the RP-A501 Phase 1 trial, presented at a late breaking session today at the American Heart Association Scientific Sessions 2024 in Chicago, were also published in the New England Journal of Medicine.
A multi-institutional program led by researchers at the Center for Data Driven Discovery in Biomedicine (D3B) at Children鈥檚 Hospital of Philadelphia (CHOP) has received up to $10 million Advanced Research Projects Agency for Health (APRA-H) Mission Office Innovative Solutions Openings award to research, validate and implement a new model for sharing and integrating data at a national level.
Researchers at Children鈥檚 Hospital of Philadelphia (CHOP) revealed for the first time that children, adolescents and young adults may experience very rare neurological issues of paraparesis and quadriparesis following chimeric antigen receptor T-cell (CAR-T) therapy, a type of immunotherapy used to treat B-cell Acute Lymphoblastic Leukemia (B-ALL).
A multi-institutional study found that 1 in 6 youths fill an opioid prescription prior to surgery, and 3% of patients were still filling opioid prescriptions three to six months after surgery, indicating persistent opioid use and possible opioid dependence.
A new study from researchers found that LGBTQ+ youth were more likely to experience depression and thoughts and attempts of suicide than non-LGBTQ+ youth, yet the prevalence of these mental health symptoms were significantly reduced when LGBTQ+ youths reported support from their parents.
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