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.
Scientists discover genes that may trigger depression

Scientists discover genes that may trigger depression

Scientists find link between over-accumulation of mitochondrial iron and Huntington's disease

Scientists find link between over-accumulation of mitochondrial iron and Huntington's disease

Study reveals differences in the brains of children with fragile X syndrome

Study reveals differences in the brains of children with fragile X syndrome

FDA-approved drug for chemical abortion shows promise for treatment of vestibular schwannoma

FDA-approved drug for chemical abortion shows promise for treatment of vestibular schwannoma

Researchers aim to reveal new direction for Barth syndrome treatment

Researchers aim to reveal new direction for Barth syndrome treatment

Research highlights methods to identify antibiotic related kidney damage in children with CF

Research highlights methods to identify antibiotic related kidney damage in children with CF

Study finds low treatment rates for people with elevated cholesterol levels

Study finds low treatment rates for people with elevated cholesterol levels

Research establishes use of chimeric cells as potential therapy for Duchenne muscular dystrophy

Research establishes use of chimeric cells as potential therapy for Duchenne muscular dystrophy

Newly-discovered hereditary mutation leads to increased production of EPO in the blood

Newly-discovered hereditary mutation leads to increased production of EPO in the blood

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