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Genetic Analysis
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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.
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Cell types underlying schizophrenia identified
Scientists have identified the cell types underlying schizophrenia, the findings offer a roadmap for the development of new therapies to target the condition...
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NDF identified as the missing factor in gene activation
Scientists find the missing factor in gene activation...
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Sequencing offers clues to progression toward multiple myeloma
Researchers have carried out the largest genomic analysis of patients with SMM to explain the biology of the disease and how it unfolds through time...
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Leukaemia protective role of Y chromosome gene discovered
Scientists have discovered the first leukaemia protective gene that is specific to the male-only Y chromosome...
