Research finds spontaneous mutations are major cause of congenital heart disease
Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what ...
Cardiology
May 12, 2013 |
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A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Unleashing the watchdog protein
McGill University researchers have unlocked a new door to developing drugs to slow the progression of Parkinson's disease. Collaborating teams led by Dr. Edward A. Fon at the Montreal Neurological Institute and Hospital -The ...
Parkinson's & Movement disorders
May 09, 2013 |
5 / 5 (1) |
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Advance in tuberous sclerosis brain science
Doctors often diagnose tuberous sclerosis complex (TSC) based on the abnormal growths the genetic disease causes in organs around the body. Those overt anatomical structures, however, belie the microscopic ...
Neuroscience
May 09, 2013 |
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Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue
Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding ...
Genetics
May 09, 2013 |
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Mutations in CSF3R common in CNL, atypical CML
(HealthDay)—In the war against cancer, it looks like matchmaking—between genes and drugs—could be an important tool, according to new research into the genetic underpinnings of two rare forms of leukemia.
Cancer
May 09, 2013 |
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Scientists identify early predictors of disease progression which could speed Huntington's disease drug trials
Scientists have identified a set of tests that could help identify whether and how Huntington's disease (HD) is progressing in groups of people who are not yet showing symptoms. The latest findings from the TRACK-HD study, ...
Neuroscience
May 08, 2013 |
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Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope
In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause – a genetic mutation that occurs before ...
Genetics
May 08, 2013 |
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Team identifies two genes that combine to cause rare syndrome
Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...
Genetics
May 08, 2013 |
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Gene replacement in pigs ameliorates cystic fibrosis-associated intestinal obstruction
Cystic fibrosis (CF) is caused by mutations in CFTR and is characterized by dysfunction of the lungs, liver, pancreas, and intestines. Approximately 15% of babies with CF are born with an obstruction of the small intestine ...
Diseases, Conditions, Syndromes
May 08, 2013 |
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New cancer driver found: Monoclonal antibody therapy stops tumor growth in mice
(Medical Xpress)—Approximately 90 percent of cancers start within tissues that form the inner linings of various organs. Decades of accumulated genetic mutations can, on occasion, induce cells specialized ...
Cancer
May 08, 2013 |
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Geneticists find causes for severe childhood epilepsies
(Medical Xpress)—Using a state-of-the-art DNA sequencing technique, UA researchers have discovered genetic mutations underlying seizure disorders in previously undiagnosed children.
Neuroscience
May 07, 2013 |
5 / 5 (1) |
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Scientists find clues to some inherited heart diseases
(Medical Xpress)—Cornell researchers have uncovered the basic cell biology that helps explain heart defects found in diseases known as laminopathies, a group of some 15 genetic disorders that include forms ...
Medical research
May 07, 2013 |
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Telomere shortening affects muscular dystrophy gene
(Medical Xpress)—Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their ...
Genetics
May 06, 2013 |
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Wip1 could be new target for cancer treatment
Researchers have uncovered mutations in the phosphatase Wip1 that enable cancer cells to foil the tumor suppressor p53, according to a study in The Journal of Cell Biology. The results could provide a new ...
Cancer
May 06, 2013 |
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