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Traditionally defined as periodic fever syndromes lacking markers of autoimmunity such as high titre self-reactive T cells and auto-antibodies, the spectrum of monogenic autoinflammatory diseases has broadened substantially in recent years. The clinical heterogeneity of newly described conditions such as STING associated vasculopathy with onset in infancy (SAVI) and Deficiency in ADA2 (DADA2) has forced reconsideration of traditional designations, with the common link between these disorders being inappropriate inflammation and cytokine dysregulation. These new diagnoses can be attributed to the introduction of whole exome sequencing (WES) into the diagnostic algorithm of patients with suspected, but currently genetically undefined, autoinflammatory diseases. We believe it's important to take a national approach to the diagnosis of autoinflammatory disorders given their rarity and introduce the establishment of AADRY, an Australian Autoinflammatory Diseases RegistrY. AADRY proposes to collect epidemiological and clinical data on patients with suspected and confirmed autoinflammatory diseases, and will perform whole exome sequencing in patients who are yet to be genetically characterised. We also aim to perform in vitro testing and harness CRISPR-Cas9 gene editing technology to determine the functional significance of novel variants and their potential contribution to clinical phenotype. We describe bioinformatic analyses and other results from the first 12 AADRY cases analysed, including one trio and one family of five.

VetCompass Australia is veterinary medical records-based research coordinated with the global VetCompass endeavor to maximize its quality and effectiveness for Australian companion animals (cats, dogs, and horses). Bringing together all seven Australian veterinary schools, it is the first nationwide surveillance system collating clinical records on companion-animal diseases and treatments. VetCompass data service collects and aggregates real-time, clinical records for researchers to interrogate, delivering sustainable and cost-effective access to data from hundreds of veterinary practitioners nationwide. Analysis of these clinical records will reveal geographical and temporal trends in the prevalence of inherited and acquired diseases, identify frequently prescribed treatments, revolutionize clinical auditing, help the veterinary profession to rank research priorities, and assure evidence-based companion-animal curricula in veterinary schools. VetCompass Australia will progress in three phases: (1) roll-out of the VetCompass platform to harvest Australian veterinary clinical record data; (2) development and enrichment of the coding (data-presentation) platform; and (3) creation of a world-first, real-time surveillance interface with natural language processing (NLP) technology. The first of these three phases is described in the current article. Advances in the collection and sharing of records from numerous practices will enable veterinary professionals to deliver a vastly improved level of care for companion animals that will improve their quality of life.

VetCompass Australia is veterinary medical records-based research coordinated with the global VetCompass endeavor to maximize its quality and effectiveness for Australian companion animals (cats, dogs, and horses). Bringing together all seven Australian veterinary schools, it is the first nationwide surveillance system collating clinical records on companion-animal diseases and treatments. VetCompass data service collects and aggregates real-time, clinical records for researchers to interrogate, delivering sustainable and cost-effective access to data from hundreds of veterinary practitioners nationwide. Analysis of these clinical records will reveal geographical and temporal trends in the prevalence of inherited and acquired diseases, identify frequently prescribed treatments, revolutionize clinical auditing, help the veterinary profession to rank research priorities, and assure evidence-based companion-animal curricula in veterinary schools. VetCompass Australia will progress in three phases: (1) roll-out of the VetCompass platform to harvest Australian veterinary clinical record data; (2) development and enrichment of the coding (data-presentation) platform; and (3) creation of a world-first, real-time surveillance interface with natural language processing (NLP) technology. The first of these three phases is described in the current article. Advances in the collection and sharing of records from numerous practices will enable veterinary professionals to deliver a vastly improved level of care for companion animals that will improve their quality of life.

Traditionally defined as periodic fever syndromes lacking markers of autoimmunity such as high titre self reactive T cells and auto-antibodies, the spectrum of monogenic autoinflammatory diseases has broadened substantially in recent years. The clinical heterogeneity of newly described conditions such as STING associated vasculopathy with onset in infancy (SAVI) and Deficiency in ADA2 (DADA2) has forced reconsideration of traditional designations, with the common link between these disorders being inappropriate inflammation and cytokine dysregulation. These new diagnoses can be attributed to the introduction of whole exome sequencing (WES) into the diagnostic algorithm of patients with suspected, but currently genetically undefined, autoinflammatory diseases. We believe it's important to take a national approach to the diagnosis of autoinflammatory disorders given their rarity and introduce the establishment of AADRY, an Australian Autoinflammatory Diseases RegistrY. AADRY proposes to collect epidemiological and clinical data on patients with suspected and confirmed autoinflammatory diseases, and will perform whole exome sequencing in patients who are yet to be genetically characterised. We also aim to perform in vitro testing and harness CRISPR-Cas9 gene editing technology to determine the functional significance of novel variants and their potential contribution to clinical phenotype. We describe bioinformatic analyses and other results from the first 12 AADRY cases analysed, including one trio and one family of five.

Interleukin 1ß 2 (IL-1ß 2) is an important inflammatory mediator of type 2 diabetes. Here we show that oligomers of islet amyloid polypeptide (IAPP), a protein that forms amyloid deposits in the pancreas during type 2 diabetes, triggered the NLRP3 inflammasome and generated mature IL-1ß 2. One therapy for type 2 diabetes, glyburide, suppressed IAPP-mediated IL-1ß 2 production in vitro. Processing of IL-1ß 2 initiated by IAPP first required priming, a process that involved glucose metabolism and was facilitated by minimally oxidized low-density lipoprotein. Finally, mice transgenic for human IAPP had more IL-1ß 2 in pancreatic islets, which localized together with amyloid and macrophages. Our findings identify previously unknown mechanisms in the pathogenesis of type 2 diabetes and treatment of pathology caused by IAPP.

The allocation of funding for new anticancer treatments within the UK has not kept pace with demand. Clinicians find themselves restricted in the use of licensed drugs which they feel are in the best interests of individual patients. Against this, health authorities have a duty to ensure that scarce resources are used equitably to meet the needs of the local population as a whole. Differential levels of funding for new treatments across the country have led to concerns about rationing by postcode. This paper outlines an approach to the prioritization of new treatment for advanced cancer developed jointly by clinicians and health authorities in South London. The approach involves evidence reviews and consensus meetings. Existing and new treatments are rated on a four-point 'relative effectiveness scale', which takes account of the impact of the treatment on quality of life and on survival. The strength of evidence supporting each effectiveness rating is also classified. Health Authorities have used these ratings to determine overall funding levels, while leaving decisions on individual patients to the relevant Trusts.