News tagged with genetic syndromes
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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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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'Dark genome' is involved in Rett Syndrome
Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding ...
Genetics
May 02, 2013 |
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Study examines effects of genetic variants for infants with neonatal abstinence syndrome
Among infants with neonatal abstinence syndrome (NAS; caused by in utero opioid exposure), variants in certain genes were associated with a shorter length of hospital stay and less need for treatment, preliminary findings ...
Diseases, Conditions, Syndromes
Apr 30, 2013 |
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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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US state moves forward on strictest abortion laws (Update)
North Dakota moved closer Friday to having the strictest abortion laws in the U.S., with its House of Representatives approving a measure that would outlaw the procedure after 20 weeks of pregnancy based on the disputed premise ...
Health
Apr 12, 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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First genetic factor in prostate cancer prognosis identified
Patients with prostate cancer and hereditary mutations in the BRCA2 gene have a worse prognosis and lower survival rates than do the rest of the patients with the disease. This is the main conclusion to come out of a study ...
Cancer
Apr 09, 2013 |
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Researchers identify mutation that causes short-sightedness and hearing loss
(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...
Genetics
Apr 08, 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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Governor approves strictest abortion ban in US (Update)
(AP)—A Republican governor signed legislation Tuesday on the strictest abortion law in the country, banning the procedure if a fetal heartbeat can be detected—which can happen as early as six weeks into a pregnancy.
Health
Mar 26, 2013 |
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North Dakota lawmakers move to ban abortion
(AP)—North Dakota lawmakers moved Friday to outlaw abortion in the state by passing a bill defining life as starting at conception.
Health
Mar 22, 2013 |
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College kids who don't drink milk could face serious consequences
College-age kids who don't consume at least three servings of dairy daily are three times more likely to develop metabolic syndrome than those who do, said a new University of Illinois study.
Health
Mar 14, 2013 |
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About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel López de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history ...
Genetics
Feb 28, 2013 |
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Why living against the clock is a risky business
Living against the clock—working late-night shifts or eating at inappropriate times, for example—can come with real health risks, metabolic syndrome, obesity, and diabetes among them. Now, researchers reporting in Current Bi ...
Medical research
Feb 21, 2013 |
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