News tagged with genetic syndromes
Review of new evidence to treat colonic diverticulitis may help doctors
Recent evidence and new treatments for colonic diverticulitis that may help clinicians manage and treat the disease are summarized in a review in CMAJ (Canadian Medical Association Journal).
Diseases, Conditions, Syndromes
Aug 27, 2012 |
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Research identifies mechanism responsible for eye movement disorder
A research team from King's College London and the University of Exeter Medical School has identified how a genetic mutation acts during the development of nerves responsible for controlling eye muscles, ...
Diseases, Conditions, Syndromes
Aug 21, 2012 |
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Fragile X and Down syndromes share signalling pathway for intellectual disability
Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regula ...
Genetics
Aug 03, 2012 |
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Study of zebra fish mouth formation may speak to Fraser syndrome hearing loss
Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.
Genetics
Jul 31, 2012 |
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Sports guidelines for long QT syndrome patients may be too strict, study finds
Participation in competitive sports by people with long QT syndrome -- a genetic abnormality in the heart's electrical system -- has been a matter of debate among physicians. Current guidelines disqualify most LQTS patients ...
Diseases, Conditions, Syndromes
Jul 24, 2012 |
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Brain variants of protein associated with Huntington's and other neurodegenerative diseases identified
(Medical Xpress) -- A protein essential for metabolism and recently associated with neurodegenerative diseases also occurs in several brain-specific forms. This discovery emerged in the course of a research ...
Genetics
Jul 23, 2012 |
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Memantine drug shown to improve memory in those with Down syndrome
Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly ...
Psychology & Psychiatry
Jul 17, 2012 |
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Novel surgery at Packard Children's repairs boy's airway, voice box
Noah Jackson was born without a voice. Because of a rare genetic disease, his airway was so narrow he couldn't cry at birth. In fact, he could scarcely breathe, and had surgery when he was 5 days old to implant ...
Surgery
Jul 16, 2012 |
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Mutations in autism susceptibility gene increase risk in boys
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Autism spectrum disorders
Jul 12, 2012 |
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Preclinical development shows promise to treat hearing loss with Usher syndrome III
A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in Nor ...
Neuroscience
Jul 10, 2012 |
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European court urged not to accredit Down's syndrome tests
Groups supporting people with Down's syndrome on Thursday called on the European Court of Human Rights not to recognise the right to tests that would detect the condition before birth.
Other
Jun 28, 2012 |
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Genetic variant is linked to obesity and insulin resistance
A large study in people at risk of diabetes has found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The results, to be presented ...
Genetics
Jun 26, 2012 |
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Genetic heart diseases may be responsible for unexplained stillbirths
Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation. IUFD is responsible ...
Obstetrics & gynaecology
Jun 26, 2012 |
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Noninvasive genetic test for Down syndrome and Edwards syndrome highly accurate
Current screening strategies for Down syndrome, caused by fetal trisomy 21 (T21), and Edwards syndrome, caused by fetal trisomy 18 (T18), have false positive rates of 2 to 3%, and false negative rates of 5% or higher. Positive ...
Obstetrics & gynaecology
Jun 05, 2012 |
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Genetic cause for CLOVES syndrome identified
Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital ...
Genetics
May 31, 2012 |
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