News tagged with genetic syndromes
Researchers identify gene variant in Proteus syndrome
A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. The discovery, which has implications for potential drug ...
Genetics
Jul 27, 2011 |
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Anglo-French team discover elusive gene that makes platelets gray
Researchers have identified an elusive gene responsible for Gray Platelet Syndrome, an extremely rare blood disorder in which only about 50 known cases have been reported. As a result, it is hoped that future cases will be ...
Genetics
Jul 25, 2011 |
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Study: Screening new colon cancer patients for Lynch syndrome cost-effective
Screening every new colon cancer patient for a particular familial disorder extends lives at a reasonable cost, say Stanford University School of Medicine researchers. The team hopes the results will encourage more medical ...
Cancer
Jul 18, 2011 |
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A new gene identified for restless legs syndrome
People suffering from restless legs syndrome (RLS) experience unpleasant sensations in the legs at night for which the only remedy is movement. Now, an international consortium from Europe, Canada and the US has identified ...
Genetics
Jul 14, 2011 |
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Researchers describe genetic basis of rare human diseases
Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, ...
Genetics
Jul 08, 2011 |
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Test for chromosome abnormalities sheds light on genetic origins of faulty eggs
Researchers are developing a new way to test a woman's egg for chromosome abnormalities that avoids the need to manipulate and biopsy the egg itself. The research may also shed light on the crucial role played by certain ...
Medical research
Jul 05, 2011 |
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Possible new drug for children with progeria
(Medical Xpress) -- A new study published in the journal Science Translational Medicine shows that rapamycin and its derivative everolimus, which is currently used to treat cancer and transplant rejections, may wo ...
Diseases, Conditions, Syndromes
Jun 30, 2011 |
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Threat to United States from new European E. coli strain unclear
(Medical Xpress) -- Over the centuries, many unexpected things have come to the United States from Germany and caught on -- lager beer, sauerkraut, bratwurst and the Volkswagen Beetle are a few that come to mind -- but don't ...
Diseases, Conditions, Syndromes
Jun 14, 2011 |
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Brain scan identifies patterns of plaques and tangles in adults with Down syndrome
In one of the first studies of its kind, UCLA researchers used a unique brain scan to assess the levels of amyloid plaques and neurofibrillary tangles -- the hallmarks of Alzheimer's disease -- in adults with ...
Neuroscience
Jun 13, 2011 |
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Researchers find new clues about aging
National Institutes of Health researchers have identified a new pathway that sets the clock for programmed aging in normal cells. The study provides insights about the interaction between a toxic protein called progerin and ...
Medical research
Jun 13, 2011 |
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Study identifies genetic mutations associated with cancer risk for hereditary cancer syndrome
(Medical Xpress) -- Among various genetic mutations for individuals with Lynch syndrome, a hereditary cancer syndrome that carries a high risk of colon cancer and an above-normal risk of other cancers, researchers have identified ...
Cancer
Jun 05, 2011 |
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Origins of XMRV deciphered, undermining claims for a role in human disease
Delineation of the origin of the retrovirus known as XMRV from the genomes of laboratory mice indicates that the virus is unlikely to be responsible for either prostate cancer or chronic fatigue syndrome in ...
Medical research
May 31, 2011 |
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New Mayo Clinic test targets Lynch syndrome, a risk factor for colon cancer
Mayo Clinic has developed a screening procedure that could dramatically increase testing for Lynch syndrome, a hereditary genetic disorder that raises cancer risk, particularly for colorectal cancer. An estimated 3 percent ...
Cancer
May 18, 2011 |
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Digestive problems early in life may increase risk for depression, study says
Depression and anxiety may result from short-term digestive irritation early in life, according to a study of laboratory rats by researchers at the Stanford University School of Medicine. The findings suggest that some human ...
Medical research
May 12, 2011 |
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Brain development goes off track as vulnerable individuals develop schizophrenia
11 May 2011 - Two new research studies published in Biological Psychiatry point to progressive abnormalities in brain development that emerge as vulnerable individuals develop schizophrenia.
Psychology & Psychiatry
May 11, 2011 |
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