News tagged with genetic syndromes
Signaling pathway linked to fetal alcohol risk: Molecular switch promises new targets for diagnosis, therapy
Fetal alcohol syndrome is the leading preventable cause of developmental disorders in developed countries. And fetal alcohol spectrum disorder (FASD), a range of alcohol-related birth defects that includes fetal alcohol syndrome, ...
Medical research
Feb 20, 2013 |
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Researchers develop clinical screening program for no.1 genetic cause of colon cancer
(Medical Xpress)—Cleveland Clinic researchers have found that colorectal cancer outcomes could be improved with regular genetic screening for Lynch syndrome, the most common hereditary, adult-onset cause of colorectal cancer, ...
Cancer
Feb 14, 2013 |
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Polycystic ovary syndrome: Panel recommends changing name of common disorder in women
An independent panel convened by the National Institutes of Health has concluded that the name of a common hormone disorder in women, polycystic ovary syndrome (PCOS), causes confusion and is a barrier to research progress ...
Diseases, Conditions, Syndromes
Jan 23, 2013 |
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Whole-exome sequencing identifies inherited mutations in autism
While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Autism spectrum disorders
Jan 23, 2013 |
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Spanish researchers develop new method to diagnose hereditary breast and ovarian cancer
Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on ...
Cancer
Jan 16, 2013 |
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GW professor discovers new information in the understanding of autism and genetics
(Medical Xpress)—Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder that ...
Autism spectrum disorders
Jan 03, 2013 |
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Genetic defect causing fragile X-related disorders more common than thought
A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Genetics
Dec 20, 2012 |
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Two new genetic mutations associated with Cowden syndrome
Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of ...
Genetics
Dec 13, 2012 |
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Fragile X protein linked to nearly 100 genes involved in autism
Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
Genetics
Dec 12, 2012 |
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New prenatal test, chromosomal microarray, proposed as standard of care
A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant information than the current standard ...
Obstetrics & gynaecology
Dec 05, 2012 |
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Biologists achieve repair and read-through of stop mutations responsible for Usher syndrome
After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to ...
Genetics
Dec 04, 2012 |
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Research discovers likely basis of birth defect causing premature skull closure in infants
An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common ...
Genetics
Nov 18, 2012 |
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Extra chromosome 21 removed from Down syndrome cell line
(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's ...
Medical research
Nov 09, 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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Genetic test results for Lynch syndrome improved with new computer program
Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance." This can be a problem, as people with ...
Cancer
Nov 01, 2012 |
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