Ashkenazi Jewish Founder Mutation Identified in Leigh Syndrome

Decades after two brothers died in childhood from a mitochondrial disease, scientists pinpointed the genetic cause as a founder mutation in an Ashkenazi Jewish ancestor. The discoverers say the causative gene should be included in prenatal genetic...
15-Nov-2018 12:05 PM EST Add to Favorites

Scientific Leader Launches New Center for Computational and Genomic Medicine

As computational biologist Yi Xing, PhD, launches the Center for Computational and Genomic Medicine at Children’s Hospital of Philadelphia, he draws on his “bilingual” strengths. In this case, bilingual refers to his fluency in two scientific...
13-Nov-2018 9:00 AM EST Add to Favorites

Children's Hospital of Philadelphia Opens Manufacturing Facility, Making Tools for Therapies that Cure Disease

An Oct. 31 event at Children’s Hospital of Philadelphia highlights the Philadelphia's role in manufacturing 21st century products: tools for precision medicine. The hospital's new Clinical Manufacturing Facility will produce clinical-grade vectors...
1-Nov-2018 10:00 AM EDT Add to Favorites

New Causative Gene Found in Severe Childhood Epilepsy

A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome. Spontaneous mutations in one gene disrupt the flow of calcium in brain cells, resulting in epileptic overactivity.
15-Oct-2018 1:05 PM EDT Add to Favorites

Children with Autism, Developmental Delays are Nearly 50 Percent More Likely to Be Overweight or Obese By Age 5

A new study reveals that children with developmental delays, including autism spectrum disorder (ASD), are up to 50 percent more likely to be overweight or obese compared with the general population.
18-Oct-2018 9:00 AM EDT Add to Favorites

First GWAS Analysis of "Type 1.5 Diabetes" Reveals Links between Immune and Metabolic Disease

Scientists who performed the largest-ever genetic study of a puzzling type of adult-onset diabetes have uncovered new connections to the two major types of diabetes, offering intriguing insights into more accurate diagnosis and better treatment.
17-Oct-2018 3:05 PM EDT Add to Favorites

Gene Variants Raise Risk of Migraines in African-American Children

Pediatric researchers have discovered common gene variants associated with migraines in African-American children. The research adds to knowledge of genetic influences on childhood migraine and may lead to future precision medicine treatments for...
11-Oct-2018 9:00 AM EDT Add to Favorites

Targeting Abnormal Signals Suggests Novel Method to Treat a Rare Childhood Blood Disease

Pediatric researchers studying the life-threatening blood disorder Fanconi anemia have devised a method to block the abnormal biological signals that drive the disease. This proof-of-concept finding in animals and stem cells may lay the foundation...
9-Oct-2018 11:00 AM EDT Add to Favorites

see all news