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.
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

Adults with Down syndrome more likely to die from COVID-19 than general population

Adults with Down syndrome more likely to die from COVID-19 than general population

Scientists examine DNA repair pathways and their impact on cancer evolution

Scientists examine DNA repair pathways and their impact on cancer evolution

Researchers elucidate mechanism by which blood and lymph vessels remain separated

Researchers elucidate mechanism by which blood and lymph vessels remain separated

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Scientists discover potential drug target for Hutchinson-Gilford progeria syndrome

Scientists discover potential drug target for Hutchinson-Gilford progeria syndrome

Genetic interactions may shed light on NGLY1 deficiency

Genetic interactions may shed light on NGLY1 deficiency

Researchers discover rare genetic disorder that affects the brain, heart and facial features

Researchers discover rare genetic disorder that affects the brain, heart and facial features

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

The Marlene and Spencer Hays Foundation awards $68,000 grant to COMBINEDBrain

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Gene therapy can effectively treat mice with tuberous sclerosis complex, shows study

Gene therapy can effectively treat mice with tuberous sclerosis complex, shows study

Scientists discover molecular defects associated with rare genetic disorder in children

Scientists discover molecular defects associated with rare genetic disorder in children