News tagged with genetic syndromes
Researchers identify genetic cause of MMPSI, rare infant epileptic disorder
A Yale-led team of researchers has identified the gene that, when mutated, causes a devastating early-onset disorder in babies known as "malignant migrating partial seizures of infants," or MMPSI. The study ...
Genetics
Oct 24, 2012 |
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Study identifies strategy for improved screening for type of hereditary colorectal cancer
In a comparison of strategies to identify individuals with Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), caused by mutations in certain genes (DNA mismatch repair [MMR] genes), universal tumor ...
Cancer
Oct 16, 2012 |
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Rare genetic disorder points to molecules that may play role in schizophrenia
Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research in the October 10 issue of The Journal of Neuroscience. The findings may on ...
Genetics
Oct 09, 2012 |
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Drug reverses abnormal brain function in Rett syndrome mice
A promising study out today in the prestigious Journal of Neuroscience showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by tre ...
Neuroscience
Oct 03, 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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Animals suspected in spread of new virus (Update)
Britain's Health Protection Agency has published an early genetic sequence of the new respiratory virus related to SARS that shows it is most closely linked to bat viruses, and scientists say camels, sheep or goats might ...
Diseases, Conditions, Syndromes
Sep 28, 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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Progeria: First-ever treatment for rare childhood aging disease shows improvement in all trial participants
Results of the first-ever clinical drug trial for children with Progeria, a rare, fatal "rapid-aging" disease, demonstrate the efficacy of a farnesyltransferase inhibitor (FTI), a drug originally developed to treat cancer. ...
Diseases, Conditions, Syndromes
Sep 24, 2012 |
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Fragile X study offers new drug hope
(Medical Xpress)—An experimental drug can improve sociability in patients with fragile X syndrome and may be helpful as a treatment for autism, according to a study.
Autism spectrum disorders
Sep 24, 2012 |
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New study confirms erroneous link between XMRV virus, prostate cancer
A once-promising discovery linking prostate cancer to an obscure retrovirus derived from mice was the result of an inadvertent laboratory contamination, a forensic analysis of tissue samples and lab experiments ...
Cancer
Sep 18, 2012 |
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Master gene affects neurons that govern breathing at birth and in adulthood
When mice are born lacking the master gene Atoh1, none breathe well and all die in the newborn period. Why and how this occurs could provide new answers about sudden infant death syndrome (SIDS), but the solution has remained ...
Neuroscience
Sep 06, 2012 |
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Cancer researchers discover gene defect responsible for cancer syndrome
University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical ...
Cancer
Sep 06, 2012 |
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Brazil abortion stirs controversy
A Sao Paulo court allowed a woman to abort a four-month-old malformed fetus despite Brazil law only granting abortions in cases of rape or when the mother's life is in danger, local media said Sunday.
Obstetrics & gynaecology
Sep 03, 2012 |
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Early menopause in mice: A model of human POI
(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, ...
Genetics
Aug 30, 2012 |
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Global platelet reactivity and high risk ACS patients
Global platelet reactivity is more effective than responsiveness to clopidogrel in identifying acute coronary syndrome (ACS) patients at high risk of ischemic events, according to research presented at ESC Congress 2012.
Cardiology
Aug 28, 2012 |
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