Children's Hospital of Philadelphia
Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...
Genetics
May 29, 2012 |
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Erectile dysfunction drug may benefit cardiac function in young patients with heart defects
Sildenafil, also known as the erectile dysfunction drug Viagra, may give a boost to underdeveloped hearts in children and young adults with congenital heart defects. Researchers from The Children's Hospital of Philadelphia ...
Cardiology
May 08, 2012 |
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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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Basic biology offers clues to better neuroblastoma treatments
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 ...
Cancer
Nov 09, 2011 |
3 / 5 (1) |
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Animal study suggests that newborn period may be crucial time to prevent later diabetes
Pediatric researchers who tested newborn animals with an existing human drug used in adults with diabetes report that this drug, when given very early in life, prevents diabetes from developing in adult animals. If this finding ...
Diseases, Conditions, Syndromes
Nov 02, 2011 |
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Bioengineered protein shows preliminary promise as new therapy for hemophilia
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.
Genetics
Oct 23, 2011 |
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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 |
5 / 5 (1) |
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A good night's sleep may reduce risk of type 2 diabetes in obese teens
Obese teenagers who don't get the proper amount of sleep may have disruptions in insulin secretion and blood sugar (glucose) levels, say pediatric researchers. Their study suggests that getting a good night's sleep may stave ...
Health
Sep 20, 2011 |
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As new data wave begins, a gene study in one disease discovers mutations in an unrelated disease
Often enough, in science as in life, unexpected knowledge has a personal impact. Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient ...
Genetics
Jul 20, 2011 |
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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 |
4.5 / 5 (2) |
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Animal results may pave way to treating rare mitochondrial diseases in children
A human drug that both prevents and cures kidney failure in mice sheds light on disabling human mitochondrial disorders, and may represent a potential treatment in people with such illnesses.
Medical research
May 19, 2011 |
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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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Novel therapy improves immune function in teen with rare disease
In a novel approach that works around the gene defect in Wiskott-Aldrich syndrome, an inherited immune deficiency disorder, researchers used an alternative cell signaling pathway to significantly improve immune function in ...
Medical research
Apr 14, 2011 |
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Rear seat design: A priority for children's safety in cars
A research report released today from The Children's Hospital of Philadelphia (CHOP) provides specific recommendations for optimizing the rear seat of passenger vehicles to better protect its most common ...
Health
Apr 29, 2013 |
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Scripts help novice instructors teach pediatric CPR
New, low-tech teaching techniques used by novice instructors may improve training for healthcare providers in performing cardiopulmonary resuscitation (CPR) on children who suffer cardiac arrest. Researchers ...
Pediatrics
Apr 24, 2013 |
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