PHILADELPHIA and GORDONVILLE, Pa. — Researchers from Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population....
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Philadelphia, PA — 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...
Philadelphia, PA – Chimeric Antigen Receptors (CARs) have opened up an exciting new field of therapeutic advancements for rare and difficult-to-treat cancers, as they have the ability to deliver targeted therapies that can kill tumor cells. Peptide-centric CARs (PC-CARs) rely on specific peptide “barcodes,” which are derived from proteins within...
PHILADELPHIA, PA — Researchers at Children’s Hospital of Philadelphia (CHOP) and Children’s National Hospital in Washington D.C. are uncovering how rare inherited genetic variants contribute to the development of brain and spinal cord tumors in children. The findings, published in the journal Nature Communications, provide new insights into how a child’s genetic makeup...
Two new studies demonstrate the use of adeno-associated viral vectors for brain gene therapies PHILADELPHIA, PA — Adeno-associated viral (AAV) vectors are promising tools that can transport modified genetic material into the nuclei of cells in target tissues impacted by challenging diseases, offering the possibility of a one-time precision therapy...
PHILADELPHIA – Researchers at Children’s Hospital of Philadelphia (CHOP) have identified a key target that may be responsible for treatment failure in about 30% of patients with hemophilia A. The target, known as B cell activating factor (BAFF), appears to promote antibodies against and inhibitors of the missing blood clotting factor that...
A testicular cancer survivor from Beverley has organised a charity fun run to raise awareness of the condition. Chris Robson, 28, of Butt Lane, was diagnosed with testicular cancer in June last year and had surgery to remove a testicle before undergoing chemotherapy. He has now been given the all-clear...
WILMINGTON, Del. — In a major step forward for cancer care, researchers at ChristianaCare’s Gene Editing Institute have shown that disabling the NRF2 gene with CRISPR technology can reverse chemotherapy resistance in lung cancer. The approach restores drug sensitivity and slows tumor growth. The findings were published Nov. 13, 2025 in...
Chronic myeloid leukemia (CML), also known as chronic myelogenous leukemia, accounts for about 15% of adult leukemia cases.¹ One of the rarest types of leukemia, CML starts in the bone marrow and causes a dangerous increase in the numbers of abnormal white blood cells. Although CML treatment has advanced significantly...
Washington, DC – Trametinib, a mitogen-activated protein kinase (MEK) inhibitor, reduces mortality and morbidity in children with severe hypertrophic cardiomyopathy (HCM) caused by pathogenic variants in the RAS/MAPK pathway, according to a study published today in JACC: Basic to Translational Science. The study provides strong evidence for personalized treatment targeting...