News tagged with genetic syndromes
Noninvasive method accurately and efficiently detects risk of Down syndrome
Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities ...
Obstetrics & gynaecology
Feb 21, 2012 |
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'ROCK' off: Study establishes molecular link between genetic defect and heart malformation
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations ...
Genetics
Feb 06, 2012 |
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Fear dementia? Your diet, weight more important than genes, experts say
Anyone who has a close relative with Alzheimer's shares the same worry: Am I next? However, a growing body of research indicates that our lifestyles - particularly what we eat and whether we're obese - play a greater role ...
Alzheimer's disease & dementia
Jan 26, 2012 |
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Genetic variation increases risk of metabolic side effects in children on some antipsychotics
Researchers have found a genetic variation predisposing children to six-times greater risk of developing metabolic syndrome when taking second-generation anti-psychotic medications. Metabolic syndrome is a cluster of conditions ...
Psychology & Psychiatry
Jan 24, 2012 |
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Studies uncover keys in sudden cardiac death
Researchers in Rhode Island Hospital's Cardiovascular Research Center have published two new studies focusing on the causes of arrhythmia and sudden cardiac death (SCD) when a genetic disorder is present. ...
Cardiology
Jan 17, 2012 |
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Genetic and mechanistic basis for rotor syndrome uncovered
The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is ...
Genetics
Jan 09, 2012 |
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Study finds two genes affect anxiety, behavior in mice with too much MeCP2
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Genetics
Jan 08, 2012 |
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Gene discovered for Weaver syndrome
Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...
Genetics
Dec 15, 2011 |
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Researchers discover hereditary predisposition of melanoma of the eye
Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.
Ophthalmology
Dec 15, 2011 |
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Brain and heart link may explain sudden death in Rett
Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Medical research
Dec 14, 2011 |
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Worms reveal new role for hormones in Bardet-Biedl syndrome
A new study, conducted by researchers at the University of California, San Francisco, has shed new light on a genetic disease known as Bardet-Biedl syndrome (BBS)—a condition in which patients show mental and developmental ...
Genetics
Dec 13, 2011 |
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Neurons grown from skin cells may hold clues to autism
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" ...
Medical research
Nov 27, 2011 |
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Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Neuroscience
Nov 24, 2011 |
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World's first bedside genetic test proves effective
Tailored anti-platelet therapy, made possible through a novel point-of-care genetic test, optimizes treatment for patients who carry a common genetic variant, researchers at the University of Ottawa Heart Institute (UOHI) ...
Genetics
Nov 09, 2011 |
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New prenatal screening test is easier but raises ethical issues
(Medical Xpress) -- New technology and innovations in genetic sequencing are dramatically changing the field of prenatal diagnosis and testing. Peter Benn, professor and director of the Diagnostic Human Genetics ...
Health
Nov 08, 2011 |
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