News tagged with genetic defect

Related topics: genes , gene therapy




Common enzyme deficiency may hinder plans to eradicate malaria

In malaria-endemic countries, 350 million people are predicted to be deficient in an enzyme that means they can suffer severe complications from taking primaquine, a key drug for treating relapsing malaria, according to a ...

Diseases, Conditions, Syndromes created Nov 13, 2012 | popularity not rated yet | comments 0

Extra chromosome 21 removed from Down syndrome cell line

(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's ...

Medical research created Nov 09, 2012 | popularity 4.9 / 5 (11) | comments 0 | with audio podcast

Preclinical muscular dystrophy data shows promise

Cedars-Sinai Heart Institute researchers have found that an experimental compound may help stem the debilitating effects of muscular dystrophy by restoring normal blood flow to muscles affected by the genetic disorder.

Medical research created Nov 08, 2012 | popularity 4 / 5 (1) | comments 0 | with audio podcast

The HOIL1 gene: The cause of a new rare disease

The researcher Capucine Picard, working with the team from Inserm unit 980 "Human genetics and infections diseases"/Université Paris Descartes under the leadership of Jean-Laurent Casanova, along with researchers from a ...

Immunology created Nov 01, 2012 | popularity not rated yet | comments 0

About face: Long-ignored segments of DNA play role in early stages of face development

(Medical Xpress)—The human face is a fantastically intricate thing. The billions of people on the planet have faces that are individually recognizable because each has subtle differences in its folds and ...

Genetics created Oct 22, 2012 | popularity 4.7 / 5 (3) | comments 0 | with audio podcast

Study shows evidence that transplanted neural stem cells produced myelin

A Phase I clinical trial led by investigators from the University of California, San Francisco and sponsored by Stem Cells Inc., showed that neural stem cells successfully engrafted into the brains of patients and appear ...

Medical research created Oct 10, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Scientists discover gene behind rare disorders

Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.

Genetics created Oct 09, 2012 | popularity not rated yet | comments 0 | with audio podcast

Breakthrough study identifies trauma switch

Researchers from the University of Exeter Medical School have for the first time identified the mechanism that protects us from developing uncontrollable fear.

Neuroscience created Oct 05, 2012 | popularity 4.7 / 5 (3) | comments 3 | with audio podcast

Boosting natural marijuana-like brain chemicals treats fragile X syndrome symptoms

American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.

Autism spectrum disorders created Sep 25, 2012 | popularity 4.3 / 5 (4) | comments 1 | with audio podcast

BPA harms human reproduction by damaging chromosomes, disrupting egg development

A Washington State University researcher has found new evidence that the plastic additive BPA can disrupt women's reproductive systems, causing chromosome damage, miscarriages and birth defects.

Medical research created Sep 24, 2012 | popularity 4.6 / 5 (9) | comments 2 | with audio podcast

New study documents women's experiences with chromosome abnormalities found in new prenatal test

(Medical Xpress)—We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers ...

Genetics created Sep 21, 2012 | popularity not rated yet | comments 0 | with audio podcast

Scientists map the genomic blueprint of the heart

Scientists at the Gladstone Institutes have revealed the precise order and timing of hundreds of genetic "switches" required to construct a fully functional heart from embryonic heart cells—providing new ...

Medical research created Sep 13, 2012 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Researchers use gene therapy to restore sense of smell in mice

(Medical Xpress)—A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a ...

Medical research created Sep 11, 2012 | popularity not rated yet | comments 0

Gene therapy restores sense of smell, may aid research into other diseases caused by cilia defects

Scientists have restored the sense of smell in mice through gene therapy for the first time—a hopeful sign for people who can't smell anything from birth or lose it due to disease.

Medical research created Sep 02, 2012 | popularity 5 / 5 (3) | comments 1 | with audio podcast

Too much protein HUWE1 causes intellectual disability

Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show ...

Genetics created Aug 31, 2012 | popularity 5 / 5 (1) | comments 0