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.
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

Common subcutaneous antibody therapy for immunodeficient patients has anti-SARS-CoV-2 antibodies

Common subcutaneous antibody therapy for immunodeficient patients has anti-SARS-CoV-2 antibodies

Recent advances in non-viral nano-vector delivery of CRISPR/Cas9 genome editing payloads

Recent advances in non-viral nano-vector delivery of CRISPR/Cas9 genome editing payloads

Study identifies 10 new genetic regions linked with Brugada syndrome

Study identifies 10 new genetic regions linked with Brugada syndrome

Reactivating Piezo1 protein could help repair broken down, dystrophic muscles

Reactivating Piezo1 protein could help repair broken down, dystrophic muscles

First genetic rat model of Down syndrome offers better understanding of the condition

First genetic rat model of Down syndrome offers better understanding of the condition

Cellular therapy offers promise for patients with Duchenne muscular dystrophy, trial shows

Cellular therapy offers promise for patients with Duchenne muscular dystrophy, trial shows

Glucocorticoid steroids improve muscle performance through distinct, sex-specific molecular pathways

Glucocorticoid steroids improve muscle performance through distinct, sex-specific molecular pathways

Scientists discover how a rare genetic disorder disrupts key neural interactions in the developing brain

Scientists discover how a rare genetic disorder disrupts key neural interactions in the developing brain

Search for a treatment to stop nerve cell degeneration yields promising results

Search for a treatment to stop nerve cell degeneration yields promising results

New approach using RNA therapeutic can fix protein problems in cystic fibrosis

New approach using RNA therapeutic can fix protein problems in cystic fibrosis

Genetic diagnosis in cerebral palsy patients could change the approach to care

Genetic diagnosis in cerebral palsy patients could change the approach to care

Scientists publish the most extensive description to date of WAGR syndrome

Scientists publish the most extensive description to date of WAGR syndrome