Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
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

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

New smartphone app helps identify severe jaundice in newborn babies

New smartphone app helps identify severe jaundice in newborn babies

Scientists discover a new role for protein complex at the center of Bardet-Biedl syndrome

Scientists discover a new role for protein complex at the center of Bardet-Biedl syndrome

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

Epilepsy drug inhibits the growth of NF1 tumors in mice

Epilepsy drug inhibits the growth of NF1 tumors in mice

Health screening and genetic tests may help detect people who carry a gene for familial hypercholesterolemia

Health screening and genetic tests may help detect people who carry a gene for familial hypercholesterolemia

Hypermutation in children could be linked to the biological father receiving chemotherapy treatments

Hypermutation in children could be linked to the biological father receiving chemotherapy treatments

Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome

Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome