Researchers, with stem cells, advance understanding of spinal muscular atrophy
Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential...
View ArticleCystic fibrosis makes airways more acidic, reduces bacterial killing
The human airway is a pretty inhospitable place for microbes. There are numerous immune defense mechanisms poised to kill or remove inhaled bacteria before they can cause problems. But cystic fibrosis...
View ArticleResearchers find new gene mutation associated with congenital myopathy
University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American...
View ArticleScientists identify new gene that influences survival in amyotrophic lateral...
A team of scientists, including faculty at the University of Massachusetts Medical School (UMMS), have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS, also known...
View ArticleResearchers solve mystery surrounding the death of two sisters nearly 50...
Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost...
View ArticleGenetic discovery for hereditary spastic ataxia—rare disease in Newfoundland
Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in...
View ArticleBreast cancer risks acquired in pregnancy may pass to next three generations
Chemicals or foods that raise estrogen levels during pregnancy may increase cancer risk in daughters, granddaughters, and even great-granddaughters, according to scientists from Virginia Tech and...
View ArticleGenetic test developed for those at-risk for Autism Spectrum Disorder:...
(Medical Xpress)—A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD.
View ArticleDoctors treat patients atop remote Andean peak through study of Acute...
Working on a remote, barren peak in the Bolivian Andes, Ryan Paterson and his fellow emergency room doctors came face-to-face with everything from altitude sickness to appendicitis to complications of...
View ArticleGene linked to age-related degeneration of intervertebral discs identified
(Medical Xpress)—Researchers at King's College London have for the first time identified a gene linked to age-related degeneration of the intervertebral discs in the spine, a common cause of lower back...
View ArticleBoosting natural marijuana-like brain chemicals treats fragile X syndrome...
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...
View ArticleDeafness genetic mutation discovered
Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher...
View ArticleResearchers use stem cells to show connection between neural cell disruption...
(Medical Xpress)—A diverse team of biologists has shown using induced pluripotent stem cells (iPSCs) that a gene mutation that causes malformations in the structure of the nuclear envelope of neural...
View ArticleThe 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...
View ArticleNew research sheds light on childhood neuromuscular disease
A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results...
View ArticleHunt for genes behind Massimo's brain disorder
A University of Queensland researcher has been awarded an $85,000 grant to identify the genes that underlie rare paediatric brain disorders.
View ArticleMECP2 duplication affects immune system as well as brain development
In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) – MECP2 mutation. Too little of the...
View ArticleScientists discovered genetic cause for rare disorder of motor neurones
(Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases.
View ArticleFaulty gene linked to condition in infants
(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth,...
View ArticleResearchers discover genetic basis for eczema, new avenue to therapies
(Medical Xpress)—Researchers at Oregon State University today announced the discovery of an underlying genetic cause of atopic dermatitis, a type of eczema most common in infancy that also affects...
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