Children's Hospital of Philadelphia
Tumors evolve rapidly in a childhood cancer, leaving fewer obvious tumor targets
An extensive genomic study of the childhood cancer neuroblastoma reinforces the challenges in treating the most aggressive forms of this disease. Contrary to expectations, the scientists found relatively few recurrent gene ...
Genetics
Jan 20, 2013 |
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25 new autism-related gene variants discovered
Genetics researchers have identified 25 additional copy number variations (CNVs)—missing or duplicated stretches of DNA—that occur in some patients with autism. These CNVs, say the researchers, are "high impact": although ...
Genetics
Jan 14, 2013 |
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Genes linked to low birth weight, adult shortness and later diabetes risk
An international team of genetics researchers has discovered four new gene regions that contribute to low birth weight. Three of those regions influence adult metabolism, and appear to affect longer-term outcomes such as ...
Genetics
Dec 02, 2012 |
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New gene variants raise risk of neuroblastoma, influence tumor progression
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 ...
Genetics
Sep 04, 2012 |
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Cornelia deLange syndrome: Mutations disrupt cellular recycling and cause childhood genetic disease
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 ...
Genetics
Aug 12, 2012 |
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Largest-ever genome-wide study identifies genes for common childhood obesity
Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.
Genetics
Apr 08, 2012 |
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Turning human stem cells into brain cells sheds light on neural development
Medical researchers have manipulated human stem cells into producing types of brain cells known to play important roles in neurodevelopmental disorders such as epilepsy, schizophrenia and autism. The new model cell system ...
Medical research
May 02, 2013 |
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Details of gene pathways suggest fine-tuning drugs for child brain tumors
Pediatric researchers, investigating the biology of brain tumors in children, are finding that crucial differences in how the same gene is mutated may call for different treatments. A new study offers glimpses into how scientists ...
Cancer
Mar 26, 2013 |
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Abnormal growth regulation may occur in children with heart defects
The poor growth seen in children born with complex heart defects may result from factors beyond deficient nutrition. A new study by pediatric researchers suggests that abnormalities in overall growth regulation play a role.
Pediatrics
Feb 19, 2013 |
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Gene variants found to affect human lifespan
By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease.
Genetics
Feb 04, 2013 |
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Scientists create one-step gene test for mitochondrial diseases
More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source ...
Medical research
Jan 29, 2013 |
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Longer CPR extends survival in both children and adults
Experts from The Children's Hospital of Philadelphia were among the leaders of two large national studies showing that extending CPR longer than previously thought useful saves lives in both children and adults. The research ...
Cardiology
Jan 21, 2013 |
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New genes discovered for adult BMI levels
A large international study has identified three new gene variants associated with body mass index (BMI) levels in adults. The scientific consortium, numbering approximately 200 researchers, performed a meta-analysis of 46 ...
Genetics
Oct 25, 2012 |
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Greater parental stress linked to children's obesity, fast food use and reduced physical activity
Parents with a higher number of stressors in their lives are more likely to have obese children, according to a new study by pediatric researchers. Furthermore, when parents perceive themselves to be stressed, their children ...
Pediatrics
Oct 22, 2012 |
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Large international study finds 21 genes tied to cholesterol levels
In the largest-ever genetic study of cholesterol and other blood lipids, an international consortium has identified 21 new gene variants associated with risks of heart disease and metabolic disorders. The findings expand ...
Genetics
Oct 11, 2012 |
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