News tagged with chromosomal disorder
Research yields significant insights into a common form of autism
Identifying and understanding the combination of factors that leads to autism is an ongoing scientific challenge. This developmental disorder appears in the first three years of life, and affects the brain's ...
Autism spectrum disorders
Mar 26, 2013 |
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Researchers study use of dasatinib for patients with high-risk MDS
Researchers at Moffitt Cancer Center have completed a phase II clinical trial to determine the safety and efficacy of dasatinib for patients with higher-risk myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia, ...
Cancer
Mar 21, 2013 |
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Study reveals molecular networks of mental health disorders
(Medical Xpress)—Early diagnosis and intervention for ADHD, autism and schizophrenia could be made possible after Australian scientists discovered the molecular networks in the brain showing psychiatric and developmental ...
Psychology & Psychiatry
Feb 27, 2013 |
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Kidney disease mutations found in a genomic blind spot
(Medical Xpress)—Advances in DNA sequencing technology during the past decade have given scientists powerful tools to peer into the genomes of humans and other species. Despite the efficiency and sophistication ...
Genetics
Feb 11, 2013 |
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Stem-cell approach shows promise for Duchenne muscular dystrophy
Researchers have shown that transplanting stem cells derived from normal mouse blood vessels into the hearts of mice that model the pathology associated with Duchenne muscular dystrophy (DMD) prevents the ...
Medical research
Jan 14, 2013 |
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Mutations in genes that modify DNA packaging result in Facioscapulohumeral Muscular Dystrophy
A recent finding by medical geneticists sheds new light on how Facioscapulohumeral Muscular Dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both ...
Genetics
Nov 11, 2012 |
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Higher anxiety associated with poorer functioning in children with 22q11.2 deletion syndrome
UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety—but not intelligence—is linked to poorer adaptive behaviors, such as self-care and communication ...
Pediatrics
Nov 05, 2012 |
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Scientists deepen genetic understanding of MS
(Medical Xpress)—Five scientists, including two from Simon Fraser University, have discovered that 30 per cent of our likelihood of developing Multiple Sclerosis (MS) can be explained by 475,806 genetic variants in our ...
Genetics
Oct 25, 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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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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Adrenoleukodystrophy unravelled
The European X-ALD project undertook an initiative to understand the mechanisms responsible for the pathogenesis of adrenoleukodystrophy (ALD). The gene therapy approach for treating ALD developed during the ...
Genetics
Jul 30, 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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Researchers report success in treating autism spectrum disorder
Using a mouse model of autism, researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have successfully treated an autism spectrum disorder characterized by severe cognitive impairment.
Autism spectrum disorders
Jul 02, 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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'Trust' hormone oxytocin found at heart of rare genetic disorder
The hormone oxytocin - often referred to as the "trust" hormone or "love hormone" for its role in stimulating emotional responses - plays an important role in Williams syndrome (WS), according to a study published June 12, ...
Neuroscience
Jun 22, 2012 |
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