Half of infants born with severe congenital heart disease go on to develop neurodevelopmental disorders, which may include cognitive, motor, social, and language impairments.
Tag Archive: Genes
Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE).
An international team of researchers recently identified gene mutations that can cause severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.
New research from The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania details how a diabetes-related gene functions on a biological pathway that affects the release of insulin.
After analyzing the DNA from thousands of patients, investigators from Children’s Hospital have uncovered several gene networks that may play important roles in autism.
Two recent studies expand the list of genes associated with body fat and body mass index (BMI), and their connection to heart disease, high blood pressure, and diabetes.
Since the completion of the Human Genome Project, there has been a natural surge in biomedical research aimed at gene discovery. Using genome-wide association studies (GWAS), bioinformatics, and other approaches, this process has focused largely on determining what genes are implicated in specific diseases.
Struan Grant, PhD, associate director of The Children’s Hospital of Philadelphia’s Center for Applied Genomics (CAG), co-authored a study that discovered new loci associated with body mass index (BMI) in adults of African ancestry.
For decades, researchers at The Children’s Hospital of Philadelphia have worked to better understand and treat neuroblastoma, a cancer of nerve tissue.Neuroblastoma is frequently aggressive, causing approximately 12 percent of all childhood cancer deaths. In high-risk forms of the disease, the cancer tends to return after initial treatment, often with deadly results.
Genes provide tremendous information about how our bodies work and our possible predisposition for a variety of diseases and conditions. Researchers are working to discern what specific genes and gene regions play a role in disease.
The Children’s Hospital of Philadelphia played a major role in a recent international genetics study that found four new gene regions that contribute to low birth weight. In particular, the investigators found that three of those regions influence metabolism in adults and may play a role in adult height, the risk of type 2 diabetes, and adult blood pressure.