News tagged with genetic syndromes
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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Evolution's gift may also be at the root of a form of autism
A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...
Genetics
May 10, 2012 |
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Discovery of a gene that causes Joubert Syndrome
C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in ...
Genetics
May 10, 2012 |
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Caffeine use may offer relief for millions of dry eye sufferers
Researchers at the University of Tokyo's School of Medicine have shown for the first time that caffeine intake can significantly increase the eye's ability to produce tears, a finding that could improve treatment of dry eye ...
Ophthalmology
Apr 17, 2012 |
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World's first bedside genetic test gets green light by Lancet
Developed in Canada and conducted by researchers from the University of Ottawa Heart Institute, in partnership with Spartan Bioscience, the world's first bedside genetic test has received acknowledgment by ...
Cardiology
Mar 29, 2012 |
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Study reports validation of the first point-of-care genetic test in medicine, regarding use of antiplatelet therapy
A study published Online First by the Lancet reports the successful validation and clinical application of the first point-of-care genetic test in medicine. The test successfully identifies the CYP2C19*2 allele: a common ...
Cardiology
Mar 28, 2012 |
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Bed-sharing, smoking play role in sudden infant death
(HealthDay) -- Although the rate of Sudden Infant Death Syndrome (SIDS) dropped by more than 50 percent following the start of a U.S. campaign encouraging parents to put babies to sleep on their backs, new ...
Health
Mar 26, 2012 |
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Chromosome 12 mutation linked to familial diarrhea
(HealthDay) -- An activating mutation in GUCY2C, encoding guanylate cyclase C (GC-C), is thought to cause a novel familial diarrhea syndrome seen in a Norwegian family, according to a study published online ...
Genetics
Mar 22, 2012 |
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Genetic mutation found in familial chronic diarrhea syndrome
When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic ...
Genetics
Mar 21, 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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Study finds new genes that cause Baraitser-Winter syndrome, a brain malformation
Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter ...
Genetics
Feb 29, 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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Blood test detects Down syndrome during pregnancy
(HealthDay) -- A second company reports that it has developed a prenatal blood test to detect Down syndrome, potentially providing yet another option for pregnant women who want to know whether their unborn ...
Obstetrics & gynaecology
Feb 23, 2012 |
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Unraveling why children with Down syndrome have increased leukemia risk
Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a ...
Genetics
Feb 22, 2012 |
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