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Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander peopleGlobally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine. However, achieving this remains constrained by a paucity of data that quantifies access to clinical genomics, particularly amongst Indigenous populations.
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Common data elements to standardize genomics studies in cerebral palsyTo define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method: Candidate data elements were collated following a review of the literature and existing CDEs.
Research
Future-proofing genomic data and consent management: a comprehensive review of technology innovationsGenomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.
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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia have identified numerous prognostically significant genomic alterations which can guide diagnostic risk stratification and treatment choices when detected early.
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Five The Kids researchers awarded prestigious grantsSeveral The Kids Research Institute Australia researchers will share in more than $7.5 million in prestigious Investigator Grants to pursue a range of innovative child health research.
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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesGenetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature".
Scientific discoveries over the past 30 years mean doctors now have a deeper understanding of what causes disease and how those diseases might progress.
Research
Recovery of chloroplast genomes from medieval millet grains excavated from the Areni-1 cave in southern ArmeniaPanicum miliaceum L. was domesticated in northern China at least 7000 years ago and was subsequentially adopted in many areas throughout Eurasia. One such locale is Areni-1 an archaeological cave site in Southern Armenia, where vast quantities archaeobotanical material were well preserved via desiccation.
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Powerful new network to ensure Indigenous Australians can benefit from genomic medicineA national alliance of the brightest minds in genomic science, academia, policy makers, industry and Indigenous leaders will work to break down barriers to ensure Aboriginal and Torres Strait Islander people can benefit from advances in genomic medicine if they choose.
Research
A common genetic variant of a mitochondrial RNA processing enzyme predisposes to insulin resistanceMitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.