Children's Hospital of Philadelphia
New gene study of ADHD points to defects in brain signaling pathways
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 ...
Attention deficit disorders
Dec 04, 2011 |
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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 |
4.3 / 5 (3) |
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For puzzling childhood immune disorder, gene research opens door to first diagnostic test
A new genomics study, led by the Center for Applied Genomics at The Children's Hospital of Philadelphia, sets the stage for the first predictive diagnostic test in a serious immunodeficiency disease in children. If the disorder, ...
Genetics
May 11, 2011 |
3.3 / 5 (3) |
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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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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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Hematologist discovers, names the 'Toms River' blood mutation in N.J. family
A newborn described as a "happy blue baby" because of her bluish skin color but healthy appearance made a small mark in medical history when one of her physicians discovered something new in her genes—the hemoglobin ...
Genetics
Jun 16, 2011 |
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In children born with severe heart defect, surgical management has little effect on neuro outcomes
In the largest multicenter clinical trial of children undergoing early-stage surgery for single-ventricle heart defects, differences in intraoperative management did not significantly affect neurodevelopmental outcomes at ...
Cardiology
Apr 05, 2012 |
4.5 / 5 (2) |
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Large meta-analysis finds new genes for type 1 diabetes
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 ...
Genetics
Sep 29, 2011 |
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New research expands understanding of psychoactive medication use among children in foster care
A few months after the federal Government Accountability Office (GAO) issued a report on the use of psychoactive drugs by children in foster care in five states, a national study from PolicyLab at The Children's Hospital ...
Health
Apr 30, 2012 |
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Protein may represent a switch to turn off B cell lymphoma
Researchers studying the molecular signals that drive a specific type of lymphoma have discovered a key biological pathway leading to this type of cancer. Cancerous cells have been described as being "addicted" to certain ...
Cancer
May 07, 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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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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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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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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Engineered immune cells produce complete response in child with an aggressive pediatric leukemia
By reprogramming a 7-year-old girl's own immune cells to attack an aggressive form of childhood leukemia, a pediatric oncologist has achieved a complete response in his patient, who faced grim prospects when she relapsed ...
Cancer
Dec 09, 2012 |
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