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Genetics and Birth Defects

New Discovery in Genetic Research Could Lead to Treatments for Mitochondrial Diseases

COLUMBIA, Mo. – A new study published in the Proceedings of the National Academy of Sciences (PNAS) from the University of Missouri ...

Automating genetic analysis helps keep up with rapid discovery of new diseases

Stanford researchers are devising ways to have computers help perform some of the intensive genetic analysis now performed manually when scientists study ...

Scientists identify Down's Syndrome gene

GENETICISTS have identified an enzyme which regulates the production of sperm and egg cells in human reproduction. ... Full story

Neurodevelopmental Model of Williams Syndrome Offers Insight into Human Social Brain

Rare genetic condition produces individuals with extremely sociable personalities but research may also shed light on biology and behavior of persons with autism and other social disorders ... Full story

Iowa State University scientists locate possible therapy target for spinal muscular atrophy

AMES, Iowa – Researchers at Iowa State University have discovered what could lead to a new treatment for spinal muscular atrophy, a potentially fatal genetic disorder in young children. ... Full story

‘Toronto protocol’ dramatically improves survival rates in children at risk of cancer

Study’s five-year follow-up shows surveillance approach to detecting tumours early yields remarkable results ... Full story

Promising Results with New Gene Therapy Approach for Treating Inherited Neurodegenerative Diseases

New Rochelle, NY —A new gene therapy approach designed to replace the enzyme that is deficient in patients with the inherited neurodegenerative disorders Tay-Sachs and ... Full story

Study Identifies Potential New Avenue for Treating Pompe Disease

DURHAM, N.C. -- Researchers at Duke Health have identified a potential new avenue for treating Pompe disease, a rare condition caused by the build-up of glycogen, a storage form of sugar, in cardiac and skeletal muscle, the liver and other tissues, due to deficiency of a particular enzyme. ... Full story

Severity of enzyme deficiency central to favism

The congenital disease favism causes sickness and even jaundice in patients after they consume beans. The culprit is a particular enzyme deficiency, which destroys the red blood cells. Scientists from the University Children’s Hospital Zurich have now discovered that, in the event of a severe or complete enzyme deficiency, patients can also suffer from an immunodeficiency. Patients need to be treated differently depending on the severity of their deficiency. ... Full story

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