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Developing precision medicine for gestational diabetes
Researchers have identified that gestational diabetes is associated with a deficit in placental expression of IGFBP1.
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Genetic Analysis
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Melanoma tumours produce altBRAFs by genomic deletions
The discovery that genomic deletions cause altBRAFs can help develop new therapies to overcome drug resistance in BRAF-mutant melanoma.
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Identifying vascular disease associations
In this Q&A, Associate Professor Dr Mete Civelek shares insights from the University of Virginia’s exciting recent study identifying several potential therapeutic targets for accelerating translational research in cardiovascular disease treatment, with a focus on proteins associated with the extracellular matrix (ECM) secretion by smooth muscle cells (SMCs).
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Investigating new treatments for polycystic kidney disease
Organoid models enabled the researchers to study the effectiveness of eukaryotic ribosomal selective glycoside drugs on PKD cyst formation.
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MUTYH variants implicated in a broader range of cancers
The discovery that one missing copy of MUTYH could increase the risk of cancers may lead to therapeutics against solid tumours.
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The genetic mutation causing the development of psoriatic arthritis
Mutation in two copies of the IKBKB gene leads to abnormal function of regulatory T cells, causing psoriatic arthritis.
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Study concludes that most aspects of aging relate to gene length
New findings about how long genes become less active with age could impact treatments for neurodegeneration, among other conditions.
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Determining the cellular architecture of multiple sclerosis lesions
Using in situ sequencing, a collaborative research group analysed 260 genes and discovered new sub-structures in MS lesions.
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Potential for personalised, molecularly guided UTUC treatments
The findings from DNA and RNA sequencing in primary and metastatic UTUC tumours could lead to strategies to improve patient outcomes.
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Vitamin A and its role in psychiatric and other disorders
In this Q&A, Dr Murray Cairns, NHMRC Leadership Research Fellow at the University of Newcastle, shares his insights about the genetic influences on circulating retinol, and explains how a retinol polygenic score could be utilised in a precision medicine approach.
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Improved understanding of the liver fibrosis process
Scientists have examined gene activity in mice models, noting important indicators of liver disease severity which may be used as therapeutic strategies.
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Truncated version of the SMN2 gene could revolutionise drug discovery
A condensed version of the SMN2 gene could improve discovery of potential therapies for spinal muscular atrophy and other conditions.
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Newly discovered role of AF1q in neuroblastoma
Researchers have identified that AF1q is highly expressed in neuroblastoma, and could be used to destabilise N-Myc.
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Potential new therapies for primary open-angle glaucoma
Researchers have gained a better understanding of the genes and biological processes that could influence POAG pathogenesis.
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SPOCD1 and C19ORF84: insights into severe male infertility
Researchers have discovered the role of two genes that protect mammalian germ cells, which could influence male fertility.