Genetic Disorder News and Research

RSS
A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Researchers describe important step toward gene therapy for patients with Sandhoff disease

Researchers describe important step toward gene therapy for patients with Sandhoff disease

Study sheds light on biological mechanisms that drive rare pediatric neurogenetic disorders

Study sheds light on biological mechanisms that drive rare pediatric neurogenetic disorders

Study shows safety, efficacy of intravenous bevacizumab treatment for HHT related bleeding

Study shows safety, efficacy of intravenous bevacizumab treatment for HHT related bleeding

Discovery may offer new therapeutic approach for kids with Prader-Willi syndrome

Discovery may offer new therapeutic approach for kids with Prader-Willi syndrome

Researchers find new method to overcome major challenge of stem cell therapy

Researchers find new method to overcome major challenge of stem cell therapy

Scientists identify protein biomarkers to track patients with Hutchinson-Gilford progeria syndrome

Scientists identify protein biomarkers to track patients with Hutchinson-Gilford progeria syndrome

Children born with Down's syndrome have superior genome that compensates for disability

Children born with Down's syndrome have superior genome that compensates for disability

Study reveals new diabetes gene in families with rare blood sugar conditions

Study reveals new diabetes gene in families with rare blood sugar conditions

UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1

UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1

Huntington's disease drug clears initial hurdles - raising hopes

Huntington's disease drug clears initial hurdles - raising hopes

Preclinical study shows clear path toward effective treatment for rare bone disease

Preclinical study shows clear path toward effective treatment for rare bone disease

Tulane professor wins Department of Defense grant for research into arteriovenous malformations

Tulane professor wins Department of Defense grant for research into arteriovenous malformations

Advances in genetic and stem cell techniques help identify therapeutic targets for neurological disorders

Advances in genetic and stem cell techniques help identify therapeutic targets for neurological disorders

New category of immunotherapy appears safe to use in patients with both cancer and HIV

New category of immunotherapy appears safe to use in patients with both cancer and HIV

Texas Biomedical Research Institute tests promising new treatment for HBV infection

Texas Biomedical Research Institute tests promising new treatment for HBV infection

Drug can safely and effectively help infants with SMA gain muscle function, study shows

Drug can safely and effectively help infants with SMA gain muscle function, study shows

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Single infusion of wildtype HSPCs halts cellular damage caused by neuromuscular disorder in mice

Myelin sheaths restore impaired nervous system over the long haul

Myelin sheaths restore impaired nervous system over the long haul

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Study to determine lowest dose of chemotherapy needed for babies with SCID

Study to determine lowest dose of chemotherapy needed for babies with SCID