News tagged with genetic syndromes
Fragile X protein linked to nearly 100 genes involved in autism
Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
Genetics
Dec 12, 2012 |
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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
Nov 09, 2012 |
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Deafness 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 syndrome type 1.
Genetics
Sep 30, 2012 |
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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
Sep 25, 2012 |
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Fruit flies with Restless Legs Syndrome point to a genetic cause
When flies are made to lose a gene with links to Restless Legs Syndrome (RLS), they suffer the same sleep disturbances and restlessness that human patients do. The findings reported online on May 31 in Current Biology strong ...
Genetics
May 31, 2012 |
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Same gene that stunts infants' growth also makes them grow too big: research
UCLA geneticists have identified the mutation responsible for IMAGe* syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann syndrome, which makes ...
Genetics
May 27, 2012 |
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Friendly to a fault, yet tense: Personality traits traced in brain
A personality profile marked by overly gregarious yet anxious behavior is rooted in abnormal development of a circuit hub buried deep in the front center of the brain, say scientists at the National Institutes ...
Neuroscience
Mar 20, 2012 |
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Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Neurons grown from skin cells may hold clues to autism
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" ...
Medical research
Nov 27, 2011 |
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Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Neuroscience
Nov 24, 2011 |
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Possible new drug for children with progeria
(Medical Xpress) -- A new study published in the journal Science Translational Medicine shows that rapamycin and its derivative everolimus, which is currently used to treat cancer and transplant rejections, may wo ...
Diseases, Conditions, Syndromes
Jun 30, 2011 |
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Science surprise: Toxic protein made in unusual way may explain brain disorder
A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.
Neuroscience
Apr 18, 2013 |
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International research finds heart disorder genetic variants in stillbirth cases
In a molecular genetic evaluation involving 91 cases of intrauterine fetal death, mutations associated with susceptibility to long QT syndrome (LQTS; a heart disorder that increases the risk for an irregular heartbeat and ...
Genetics
Apr 09, 2013 |
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Prostate cancer risk rises in men with inherited genetic condition
Men with an inherited genetic condition called Lynch syndrome face a higher lifetime risk of developing prostate cancer and appear to develop the disease at an earlier age, according to a new study led by ...
Cancer
Apr 01, 2013 |
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Signaling pathway linked to fetal alcohol risk: Molecular switch promises new targets for diagnosis, therapy
Fetal alcohol syndrome is the leading preventable cause of developmental disorders in developed countries. And fetal alcohol spectrum disorder (FASD), a range of alcohol-related birth defects that includes fetal alcohol syndrome, ...
Medical research
Feb 20, 2013 |
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