News tagged with genetic abnormalities
Baby's genome deciphered prenatally from parents' lab tests
Scientists have successfully sequenced the genome of a baby in the womb without tapping its protective fluid sac. This non-invasive approach to obtaining the fetal genome is reported in the June 6 issue of ...
Genetics
Jun 06, 2012 |
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Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...
Genetics
May 29, 2012 |
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Scientists find that chromosomal abnormalities are associated with aging and cancer
(Medical Xpress) -- Two new studies have found that large structural abnormalities in chromosomes, some of which have been associated with increased risk of cancer, can be detected in a small fraction of people without a ...
Genetics
May 08, 2012 |
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Sequencing works in clinical setting to help -- finally -- get a diagnosis
Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.
Pediatrics
May 08, 2012 |
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Clusters of cooperating tumor-suppressor genes are found in large regions deleted in common cancers
Scientists at Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan-Kettering Cancer Center have amassed strong experimental evidence implying that commonly occurring large chromosomal deletions that are seen in many cancer ...
Cancer
May 07, 2012 |
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Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers ...
Cancer
May 07, 2012 |
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Researchers pinpoint genetic pathway of rare facial malformation in children
Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the ...
Pediatrics
May 03, 2012 |
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Evidence of familial vulnerability for epilepsy and psychosis
Although the two disorders may seem dissimilar, epilepsy and psychosis are associated. Individuals with epilepsy are more likely to have schizophrenia, and a family history of epilepsy is a risk factor for psychosis. It is ...
Diseases, Conditions, Syndromes
May 02, 2012 |
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Genetic profiling helps doctors more accurately predict prognosis, guide treatment decisions for leukemia patients
Researchers have identified a set of genetic abnormalities in patients with acute myelogenous leukemia (AML) that doctors can use to more accurately predict patients' prognoses and select treatments that are most likely to ...
Cancer
Mar 14, 2012 |
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New throat cancer gene uncovered
Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.
Cancer
Mar 08, 2012 |
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Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Research links circadian rhythms to sudden cardiac death
A fundamental discovery reported in the March 1st issue of the journal Nature, uncovers the first molecular evidence linking the body's natural circadian rhythms to sudden cardiac death (SCD). Ventricular arrhythmias, or abn ...
Cardiology
Feb 22, 2012 |
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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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Telomere failure, telomerase activation drive prostate cancer progression
Genomic instability caused by an erosion of the protective caps on chromosomes, followed by activation of an enzyme that reinforces those caps, allows malignant cells to evade destruction and acquire more deadly characteristics, ...
Cancer
Feb 21, 2012 |
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Jak of all trades? Not of leukaemia therapy
About one in five or six cases of adult leukaemia in Western populations relates to so-called chronic myeloid leukaemia, or CML. Treatment of CML usually relies on inhibitors of the abnormal protein that causes the condition ...
Cancer
Jan 30, 2012 |
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