News tagged with genetic screening
AB blood type strong risk factor for venous blood clots
The non-O ABO blood type is the most important risk factor for venous thromboembolism (blood clots in veins), making up 20% of attributable risk for the condition, according to a new study in CMAJ (Canadian Medical Associati ...
Diseases, Conditions, Syndromes
Feb 04, 2013 |
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Autism speaks through gene expression
Autism spectrum disorders affect nearly 1 in 88 children, with symptoms ranging from mild personality traits to severe intellectual disability and seizures. Understanding the altered genetic pathways is critical for diagnosis ...
Genetics
Feb 01, 2013 |
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Study finds 'Achilles heel' of key HIV replication protein
Researchers at the University of Pittsburgh School of Medicine may have found an "Achilles heel" in a key HIV protein. In findings published online today in Chemistry and Biology, they showed that targeting this vulnerable spot c ...
HIV & AIDS
Jan 24, 2013 |
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Scientists use Pap test fluid to detect ovarian, endometrial cancers
Using cervical fluid obtained during routine Pap tests, scientists at the Johns Hopkins Kimmel Cancer Center have developed a test to detect ovarian and endometrial cancers. In a pilot study, the "PapGene" test, which relies ...
Cancer
Jan 09, 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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Gene that causes tumor disorder linked to increased breast cancer risk
New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from ...
Cancer
Nov 27, 2012 |
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Skin cells reveal DNA's genetic mosaic
(Medical Xpress)—The prevailing wisdom has been that every cell in the body contains identical DNA. However, a new study of stem cells derived from the skin has found that genetic variations are widespread ...
Genetics
Nov 19, 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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Scientific progress could be casualty in public health vs. privacy debate over newborn blood samples
The tremendous potential public health benefits of research with blood samples left over after routine newborn screening must not be lost amidst controversy and litigation, say medical and bioethics experts in a commentary ...
Other
Nov 07, 2012 |
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Loss of essential blood cell gene leads to anemia
Researchers at Brigham and Women's Hospital (BWH) have discovered a new gene that regulates hemoglobin synthesis during red blood cell formation. The findings advance the biomedical community's understanding and treatment ...
Medical research
Nov 07, 2012 |
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Confirmation of nitisinone efficacy for life-threatening liver disease
A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte-Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease ...
Diseases, Conditions, Syndromes
Oct 31, 2012 |
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Gene polymorphisms identified that are responsible for breast density and cancer risk
It has long been known that breast density, or mammographic density, is a strong risk factor for breast cancer, and that estrogen and progestin hormone therapy increases dense breast tissue. Now, a study published in BioMed ...
Cancer
Oct 24, 2012 |
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Study identifies strategy for improved screening for type of hereditary colorectal cancer
In a comparison of strategies to identify individuals with Lynch syndrome, the most common form of hereditary colorectal cancer (CRC), caused by mutations in certain genes (DNA mismatch repair [MMR] genes), universal tumor ...
Cancer
Oct 16, 2012 |
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Study links deletion of brain-derived neurotrophic factor to major depression, anxiety, and obesity
McGill researchers have identified a small region in the genome that conclusively plays a role in the development of psychiatric disease and obesity. The key lies in the genomic deletion of brain-derived neurotrophic factor, ...
Psychology & Psychiatry
Oct 08, 2012 |
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Danish sperm donor passes genetic disorder to five children
A Danish sperm donor has passed a potentially severe genetic disorder to five children after a screening test failed to catch that he had the disease, health officials said Monday.
Other
Sep 24, 2012 |
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