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.
FDA's accelerated drug approval process plagued by missing efficacy data and questionable evidence

FDA's accelerated drug approval process plagued by missing efficacy data and questionable evidence

Gene therapy shows promise in children with devastating genetic disorder

Gene therapy shows promise in children with devastating genetic disorder

Novel method of gene therapy promises to transform the treatment of rare genetic disorder

Novel method of gene therapy promises to transform the treatment of rare genetic disorder

Study: Gene editing therapy for early-stage Huntington’s disease may have long-lasting benefits

Study: Gene editing therapy for early-stage Huntington’s disease may have long-lasting benefits

Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Researchers report a new genetic cause for infantile fractures

Researchers report a new genetic cause for infantile fractures

Researchers find brain alterations in obese children

Researchers find brain alterations in obese children

Researchers identify new approach to clear toxic Huntingtin protein

Researchers identify new approach to clear toxic Huntingtin protein

Direct action of SARS-CoV-2 on organs may lead to exacerbated inflammatory response in pediatric patients

Direct action of SARS-CoV-2 on organs may lead to exacerbated inflammatory response in pediatric patients

Investigational drug reduced triglycerides in patients with severe hypertriglyceridemia, acute pancreatitis

Investigational drug reduced triglycerides in patients with severe hypertriglyceridemia, acute pancreatitis

Machine learning approach helps study human hypothalamus at the single-cell level

Machine learning approach helps study human hypothalamus at the single-cell level

New compound could alleviate neurological symptoms of CHARGE syndrome

New compound could alleviate neurological symptoms of CHARGE syndrome

Advanced computer model could lead to improvements in 'bionic eye' technology

Advanced computer model could lead to improvements in 'bionic eye' technology

Toward a transformative therapy for sickle cell patients

Toward a transformative therapy for sickle cell patients

Type 2 diabetes drug can successfully reduce symptoms associated with tuberous sclerosis complex

Type 2 diabetes drug can successfully reduce symptoms associated with tuberous sclerosis complex

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

UVA researcher developing innovative gene therapy to help children with Rett syndrome

UVA researcher developing innovative gene therapy to help children with Rett syndrome

Novel CRISPR-based gene editor developed to correct mutations that cause genetic disorders

Novel CRISPR-based gene editor developed to correct mutations that cause genetic disorders

Gold nanocomposite contact lenses for correcting color blindness

Gold nanocomposite contact lenses for correcting color blindness

FDA approval provides targeted treatment option for patients with rare DMD mutation

FDA approval provides targeted treatment option for patients with rare DMD mutation