Scientists who analyzed the genes involved in 10 autoimmune diseases that begin in childhood have discovered 22 genome-wide signals shared by two or more diseases. These shared gene sites may reveal potential new targets ...
Aug 24, 2015
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Researchers are reporting the highest and most sustained levels to date of the essential blood-clotting factor IX in patients with the inherited bleeding disorder hemophilia B. After receiving a single dose of an experimental ...
Dec 3, 2016
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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 ...
Oct 18, 2018
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Motor imitation, or the ability to copy the physical behavior of others, is a critical part of cognitive and social development from very early childhood. However, studies have shown that motor imitation can differ in children ...
Jan 27, 2022
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Navigating the human genome with software that you can view on an iPad sounds pretty impressive, until perhaps you reflect that nature has already encoded trillions of copies of this in your chromosomes. Then again, printing ...
Jun 22, 2011
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Researchers at Children's Hospital of Philadelphia (CHOP) have demonstrated that autism spectrum disorder (ASD) may be caused by defects in the mitochondria of brain cells. The findings were published online by the Proceedings ...
Feb 1, 2021
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Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...
Oct 3, 2019
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A new study from Children's Hospital of Philadelphia (CHOP) finds that a skin patch may be useful in treating children with a painful, chronic condition called eosinophilic esophagitis (EoE) triggered by milk. Among 20 children ...
May 23, 2019
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New work by a pioneering scientist details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases. Mitochondria are tiny energy-producing structures within our cells ...
Oct 22, 2014
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Researchers at Children's Hospital of Philadelphia (CHOP) have pinpointed a genetic variation responsible for driving the development of inflammatory bowel disease (IBD). The genetic pathway associated with this variation ...
Apr 9, 2020
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