Genetic Disorder News and Research

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Previously unknown links between genetic factors in ASD identified

Previously unknown links between genetic factors in ASD identified

Treatment using CRISPR genome editing alleviates swelling attacks in hereditary angioedema patients

Treatment using CRISPR genome editing alleviates swelling attacks in hereditary angioedema patients

Transcriptomic dysregulation across cerebral cortex in autism spectrum disorder

Transcriptomic dysregulation across cerebral cortex in autism spectrum disorder

Study finds possible treatment strategy for Feingold syndrome type 1

Study finds possible treatment strategy for Feingold syndrome type 1

OSU researchers take major step toward improving, lengthening the lives of cystic fibrosis patients

OSU researchers take major step toward improving, lengthening the lives of cystic fibrosis patients

What parents need to know about prenatal tests | BGI Perspectives

What parents need to know about prenatal tests | BGI Perspectives

New method allows for a much more detailed examination of the brain processes

New method allows for a much more detailed examination of the brain processes

Zinc could improve the brain defects caused by rare genetic disorder

Zinc could improve the brain defects caused by rare genetic disorder

Cancer survival rate rises in the US

Cancer survival rate rises in the US

Experimental drug prolongs survival, improves muscle function in mice severe Duchenne muscular dystrophy

Experimental drug prolongs survival, improves muscle function in mice severe Duchenne muscular dystrophy

New technology reveals cellular changes across neural-epithelial-vascular complex in choroideremia

New technology reveals cellular changes across neural-epithelial-vascular complex in choroideremia

Study reinforces the potential of Huntington’s treatments that target glia cells

Study reinforces the potential of Huntington’s treatments that target glia cells

Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

NIH researchers develop three-dimensional structure of twinkle protein

NIH researchers develop three-dimensional structure of twinkle protein

Insights into molecular folding of AAT protein will help develop new therapies for alpha-1 antitrypsin deficiency

Insights into molecular folding of AAT protein will help develop new therapies for alpha-1 antitrypsin deficiency

Geisinger researchers receive two grants to study risk factors linked with familial hypercholesterolemia

Geisinger researchers receive two grants to study risk factors linked with familial hypercholesterolemia

Study reveals tiny gene fragments as crucial new players in retinal development and vision

Study reveals tiny gene fragments as crucial new players in retinal development and vision

Roundworms shed light on vision loss in a rare human genetic disorder

Roundworms shed light on vision loss in a rare human genetic disorder

Cancer drug helped delay progression of Duchenne muscular dystrophy in mice

Cancer drug helped delay progression of Duchenne muscular dystrophy in mice

Existing cancer drug shows promise for treating patients with muscular dystrophy

Existing cancer drug shows promise for treating patients with muscular dystrophy

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