Genetics
Genetic conditions lead to range of overlapping needs in children
Deletions and duplications of DNA are responsible for wide-ranging developmental difficulties in children, finds a new study by Cardiff University.
May 3, 2019
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News tagged with cnvs
Psychology & Psychiatry
Genomic copy number variants contribute to cognitive impairment in the UK
Genetic alterations of rare deletions or duplications of small DNA segments, called copy number variants (CNVs), have been known to increase risk of neurodevelopmental disorders such as schizophrenia, autism spectrum disorder, ...
Jun 28, 2017
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Diseases, Conditions, Syndromes
DNA abnormalities found in children with chronic kidney disease
A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, including DNA anomalies that have been linked to neurocognitive disorders, according to a new Columbia University ...
Apr 20, 2015
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Genetics
Deletions and duplications in the exome can help pinpoint cause of unexplained genetic diseases
Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
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Alzheimer's disease & dementia
Rare genomic mutations found in 10 families with early-onset, familial Alzheimer's disease
Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes – the amyloid precursor protein and presenilins 1 and 2 – have been established ...
Jun 17, 2013
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Genetics
Gene variants found to affect human lifespan
By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease.
Feb 4, 2013
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Genetics
Novel gene-searching software improves accuracy in disease studies
A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations ...
Jan 22, 2013
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Genetics
Study explains functional links between autism and genes
A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 ...
Jun 21, 2012
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Genetics
Rare genetic mutations linked to bipolar disorder
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant ...
Dec 21, 2011
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Genetics
Is short stature associated with a 'shortage' of genes?
New research sifts through the entire genome of thousands of human subjects to look for genetic variation associated with height. The results of the study, published by Cell Press in the December issue of the American Journal ...
Nov 23, 2011
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