News tagged with genetic diagnosis
Researchers find genetic risk factor for pulmonary fibrosis
A paper recently published in the New England Journal of Medicine and co-written by physicians and scientists at the University of Colorado School of Medicine finds that an important genetic risk factor for pulmonary fibros ...
Diseases, Conditions, Syndromes
May 21, 2013 |
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Sampling of embryonic DNA after IVF without biopsy
New study published in Reproductive Biomedicine Online shows that fluid-filled cavity in 5-day old human blastocysts may contain DNA from the embryo, allowing diagnosis of genetic disease without a biopsy
Medical research
Apr 02, 2013 |
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Australia-led study in epilepsy breakthrough
An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
Genetics
Apr 02, 2013 |
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Calcium-binding protein mutations found in heart rhythm disorders
A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported ...
Cardiology
Feb 06, 2013 |
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Germany clears genetic testing of embryos
Germany's upper house of parliament on Friday gave its green light to testing embryos after in vitro fertilisation in certain cases after a passionate ethical debate in the country on the issue.
Obstetrics & gynaecology
Feb 01, 2013 |
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New discovery shows genetic causes of rare bone condition
(Medical Xpress)—Researchers at the University of Oxford have discovered two new genetic causes of craniosynostosis, a rare bone condition that can inhibit brain growth in children.
Genetics
Jan 29, 2013 |
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U-M to develop guide for parents of children with disorders of sex development
When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure.
Health
Jan 16, 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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New biomarker may help in detecting gliomas
Researchers using sophisticated genetic testing techniques have identified a promising new biomarker for diagnosis of glioma—the most common type of malignant brain tumor, reports the January issue of Neurosurgery, official journal of the Congres ...
Cancer
Jan 16, 2013 |
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First Alzheimer's case has full diagnosis 106 years later
(Medical Xpress)—More than a hundred years after Alois Alzheimer identified Alzheimer's disease in a patient an analysis of that original patient's brain has revealed the genetic origin of their condition.
Alzheimer's disease & dementia
Jan 09, 2013 |
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Celiac 'epidemics' link to infections early in life
Celiac disease affects about one percent of the population but occasional 'epidemics' have been noticed along with a seasonal variation in number of cases diagnosed. New research published in BioMed Central's open access ...
Pediatrics
Dec 18, 2012 |
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Genetic technology detects CHARGE syndrome in prenatal sample
Brief Report in the December 6, 2012 issue of the New England Journal of Medicine (NEJM) focuses on findings from Cynthia Morton, PhD, director of Cytogenetics at Brigham and Women's Hospital and senior study author, and c ...
Genetics
Dec 06, 2012 |
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Researchers suggest some emerging infectious diseases may have been around a long time
(Medical Xpress)—A genetics research team led by Pardis Sabeti of Harvard University has published a paper in the journal Science, suggesting that some infectious diseases that are thought to be relati ...
Diseases, Conditions, Syndromes
Nov 09, 2012 |
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Unexplained intellectual disability explained by state-of-the-art genetic analysis
A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability ...
Genetics
Nov 08, 2012 |
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Exome sequencing: Potential diagnostic assay for unexplained intellectual disability
Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented on Nov. 8 at the American Society of Human Genetics 2012 meeting in San Francisco.
Genetics
Nov 08, 2012 |
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