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Class of neurological disorders share 3D genome folding pattern
Researchers have found another common thread linking nearly all of the TNR expansion diseases...
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Genetic Analysis
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Expert view: Unravelling the complexities of GABAA subunit selectivity in drug discovery
GABAA receptors represent a large and complicated family of ion channels that consist of at least 16 subunits (α1-6, β1-3, γ1-3, δ, ε, π, θ) that have been shown to be vital for the normal functioning of the brain. These inhibitory ligand-gated channels have been shown to beimportant in sedation,…
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NF-2 gene mutations make cells hyper-responsive to growth factor signalling
Researchers have determined one way that mutations in a gene involved in a rare, hereditary cancer syndrome lead to out-of-control cellular proliferation...
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CRISPR technique skips over portions of genes that can cause disease
Researchers have adapted CRISPR to cause the cell's internal machinery to skip over a small portion of a gene when transcribing it into a template for protein building...
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Susceptible genes for childhood nephrotic syndrome identified
A specific haplotype was identified as having the highest risk of development, with another showing the lowest risk...
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Recessive disorder impairing eyesight has been discovered
Blindness in children has been linked to a recessive genetic disorder caused by the MARK3 gene...
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Urine-derived stem cells as innovative platform for drug testing and disease modelling
Kidneys are crucial for filtration of drugs and toxins and their proper function is essential for overall health. Unfortunately, due to disease and improper function, kidney transplantation or dialysis are necessary for millions of patients annually all over the world.1,2
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Administering hormones affects DNA
In an experiment with pigs, researchers have demonstrated for the first time that the administration of even extremely low doses of an endocrine disruptor - in this case, an endogenous oestrogen - leads to epigenetic changes in a pregnant sow’s DNA.
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TRAF7 gene mutations associated with multisystem disorders
A team of researchers have identified four different mutations in the gene TRAF7...
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Genes linking Alzheimer’s and Down syndrome discovered
Scientists are a step closer to understanding which genes are responsible for early-onset Alzheimer's disease in people with Down syndrome...
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Gene signature holds promise for early detection of active TB
A gene signature in the bloodstream could reveal whether someone is going to develop active tuberculosis (TB) disease months before symptoms begin.
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CRISPR technology may improve accuracy of predicting heart disease risk
Scientists may now be able to predict whether carrying a specific genetic variant increases a person's risk for disease using gene editing and stem cell technologies...
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ANT1 mutation links bipolar disorder to mitochondrial disease
Researchers have reported that mitochondrial dysfunction affects the activity of serotonergic neurons in mice with mutations of ANT1...
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Profiling the genome hundreds of variations at a time
A CRISPR-Cas9 high-throughput strategy creates the possibility to rapidly profile and identify genes and DNA sequence variations key to different traits and diseases.