Researchers have discovered two gene variants that raise the risk of the pediatric cancer neuroblastoma. Using automated technology to perform genome-wide association studies on DNA from thousands of subjects, the study broadens ...
Sep 4, 2012
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Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that ...
Aug 12, 2012
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Pediatric researchers analyzing genetic influences in attention-deficit/hyperactivity disorder (ADHD) have found alterations in specific genes involved in important brain signaling pathways. The study raises the possibility ...
Dec 4, 2011
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By studying tumor biology at the molecular level, researchers are gaining a deeper understanding of drug resistance -- and how to avoid it by designing pediatric cancer treatments tailored to specific mutations in a child's ...
Nov 9, 2011
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A genetically engineered clotting factor that controlled hemophilia in an animal study offers a novel potential treatment for human hemophilia and a broad range of other bleeding problems.
Oct 23, 2011
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The largest-ever analysis of genetic data related to type 1 diabetes has uncovered new genes associated with the common metabolic disease, which affects 200 million people worldwide. The findings add to knowledge of gene ...
Sep 29, 2011
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Health care providers are a vital resource for autistic adolescents and their families as they prepare for the transition to adulthood, which may include learning to drive, according to a new study from researchers at Children's ...
Apr 29, 2024
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Natural history studies serve as an important standard in medical research because they analyze demographic, genetic, environmental and other variables to better understand how a disease develops and its clinical outcomes.
Apr 22, 2024
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In the wake of the COVID-19 pandemic, many families worried about the long-term effects posed by the SARS-COV-2 virus. Now, researchers from Children's Hospital of Philadelphia (CHOP) found that a SARS-COV-2 infection likely ...
Apr 12, 2024
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Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) developed a new method of capturing patient and caregiver reported outcomes that can be readily integrated with clinical information ...
Mar 28, 2024
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