Emma McGrath attended the short course Technology Assessment for Rare Diseases on Sunday as part of #ISPOREurope 2024. She captures her learnings below. Speakers: Hwee-Lin Wee -Lin Wee, PhD joshua byrnes , PhD Diana Beatriz Bayani, MSc, PhD Session 1: Overview of rare diseases Looking at the case study of Spinal Muscular Atrophy (SMA) Limited research and development to receiving treatments for rare diseases such as regulatory barriers, recruitment and unpredictability. The European Organisation for Rare Diseases (EURORDIS) and the Orphan Drug regulation initiatives to encourage R&D for rare diseases. Singapore’s approach to finance rare diseases addressing the need for an appropriate financing framework, that is both sustainable and will prevent a schism between those who can afford precision medicine and those who cannot. Session 2: Comparing the Experiences of England and Singapore. Key features of rare disease policies, HTA pathways and funding Case Studies: Comparing the experiences of England and Singapore Implications for future policy and practice Session 3: Economic Evaluation of rare diseases Types of economic evaluation Cost-effectiveness planes and quantifying the uncertainty Spotlight on extrapolations and their uncertainty over time Session 4: Multicriteria Analysis (MCDA) requires the aggregation of criteria into a single expression of value. MCDA has been used to organise data and questions relevant to the development of clinical practice guidelines (CPG) for a rare genetic condition, Prader-Willi syndrome (PWS) Pros of MCDA are how it Improves transparency, promotes consistency, Does not replace judgement Cons of MCDA: Requires careful design considerations and is time consuming. #shortcourse #ISPOR #learning #raredisease #economicevaluation #multicriteriaanalysis
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【Creating a Future of Better Health】 We welcome the 2024 Policy Address delivered today by Mr John Lee, the Chief Executive of the HKSAR, particularly the series of initiatives that aim at enhancing public healthcare services, including the formulation of a directory for inherited and rare diseases and the promotion of precision medicine, in which HKGI has a key role to play. These initiatives further reinforce HKGI’s pivotal role in driving precise diagnoses, personalised treatments, and disease prevention plans in Hong Kong. Dr Lo Su-vui, our Chief Executive Officer, said, “Since the launch of the Hong Kong Genome Project (HKGP) in 2021, we have successfully recruited nearly 40,000 participants through concerted efforts, and have started building a genome database that not only consists primarily of Southern Chinese, but also covers clinical data and genomic information. This unique database, alongside the invaluable experience and global networks we have accumulated in the research and analysis of various diseases, especially genetic and rare diseases, will undoubtedly contribute to the relevance and comprehensiveness of the directory. Together with our secure research platform, the Synergistic Research Environment, we will drive innovations and applications of genomic medicine as well as expedite clinical trials of new therapeutics, paving the way for faster and more precise drug development to transform public healthcare services.” With the strong support of the HKSAR Government and the Health Bureau, we will continue to work closely with the Department of Health, Hospital Authority, CUHK Medicine and HKUMed – The University of Hong Kong and various stakeholders to realise our vision - avail genomic medicine to all for better health and well-being. We will also stay aligned with the HKSAR Government's initiatives to develop Hong Kong into an international Health and Medical Innovation Hub that benefits the wider community. #HKGI #HKGP #HongKongGenomeInstitute #GenomicMedicine #GenomeProject #2024PolicyAddress #RareDiseases #GeneticDiseases
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Two global research projects led by UOW have been awarded funding under the National Health and Medical Research Council (NHMRC)’s e-ASIA 2024 Joint Research Project scheme. A new model that tracks the presence of infectious diseases in wastewater led by Associate Professor Guangming Jiang and and Professor Martina Sanderson-Smith was the first project to receive funding. The project will help support decision-making in disease control, particularly in low and middle income countries. The second project funded under the e-ASIA scheme will see Distinguished Professor Xu-Feng Huang examine the role of increased fibre intake in combating metabolic syndrome. Metabolic syndrome is a global and complex health problem, that comprises several conditions that occur together in people, such as hypertension, dyslipidemia, abdominal obesity and insulin resistance. “These are vital projects that offer a truly innovative approach to global health problems. It is always wonderful to see UOW researchers collaborating with academics throughout the world...” UOW Interim Deputy Vice-Chancellor and Vice President (Research and Sustainable Futures) Senior Professor Eileen McLaughlin said. #UOWResearch
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This week marked the conclusion of three significant conferences. After impactful sessions with Novo Nordisk and Boehringer Ingelheim, ObesityDenmark had the honor of participating in Dansk Selskab for Adipositasforskning (DSAF) Annual Obesity Meeting in Nyborg. Across all three conferences, a shared message emerged: the pressing need for interdisciplinary collaboration—from medical professionals and dietitians to researchers and patient organizations—to advance treatment options and secure broader recognition of obesity as a chronic disease. DSAF’s meeting offered valuable insights into key topics, including physical activity, weight maintenance, and emerging therapeutic approaches, while providing both early-career and seasoned researchers a platform to exchange knowledge and strengthen professional networks. Many thanks to DSAF for the invitation and to everyone committed to building a future in which obesity is recognized and addressed with the respect and dedication it deserves. #ObesityDenmark #RespectObesity #ObesityResearch #HealthcareCollaboration #RecognizeObesityAsADisease
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⭐ ⭐ We are delighted to reach UK top 20 status for 14 days’ recruitment to the GenOMICC study, thanks to the great work of our fabulous Critical Care Research Team.⭐ ⭐ When most people become unwell from an infection, they have a mild case of the illness. However, some people become so unwell that they need to be in critical care. The GenOMICC study is a huge international study that is trying to identify the specific genes that make people susceptible to becoming critically unwell. Once the genes that make us high risk of becoming very poorly have been identified, new treatments can be investigated that will target these genes. 💙Research is a vitally important part of WUTH’s strategy to provide leading healthcare to our local population because it allows patients to receive new therapies. 💙 #Research
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I was privileged to give the opening plenary talk titled ‘Defining a New Future for National Access Policy for Rare Diseases’ at the 2nd Southeast Asia Rare Disease Summit in Bangkok earlier this week. In an audience with clinicians, policymakers, academics, patient organisations, and industry representatives, I spoke about the global rare diseases policy landscape, the common challenges we face and the opportunities in the region moving forward to increase equitable access to diagnostics and treatment and improve outcomes for people living with rare diseases. 3 key points I raised: 1. Rare diseases are not rare. Collectively, it affects more than 300 million people globally and surpasses the number of cancer patients in the world. 2. Policy development is a complex process. But there are many examples of best practices we can learn from each other. A collaborative approach to policy development is crucial to accelerating policy innovation and implementation. 3. Patient engagement is a key driver to bridge the gap between patients, healthcare providers and policymakers. At the Duke-NUS Medical School Centre of Regulatory Excellence and the SingHealth Duke-NUS Global Health Institute, we are committed to advancing patient engagement to improve health and regulatory systems. Many thanks to the Thai Rare Disease Foundation, Medical Genetics and Genomics Association, Genetics Society of Thailand, and Takeda Thailand for inviting me to be part of this important conversation. I look forward to the continuous engagement with the rare diseases community. Rajakanth R Wee Seng PHUA Kenneth Mah Ekawat Suwantaroj Poh Lin Lim Wei Lin Ng #raredisease #rareismany #globalhealth #publichealth #patientengagement
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Please do fill in our survey to guide the future work of the HTAi Rare Diseases Interest Group on evidence assessment and economic evaluation
To all HTA agency members please take some time to complete a survey created by the Rare Disease Interest Group (RDIG) at Health Technology Assessment international (HTAi) as part of the projects on Evidence Assessment Frameworks (EAF) and Economic Modelling and Methods to understand the most important challenges faced by HTA agencies and relevant stakeholders when it comes to evidence assessment and economic models, and to what extent existing approaches have been considered or used in practice. Please completed by 30th Sept 2024 following this link. https://lnkd.in/eqYd9jCP . Please circulate to others who in your HTA networks who are able to contribute.
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Last week, I attended a showing of the brilliant musical “Lifeline”, hosted by UK Special Envoy on Antimicrobial Resistance Professor Dame Sally Davies at her residence in Trinity College, Cambridge. “Lifeline” tells the story of Scottish scientist Alexander Fleming’s world-changing discovery of penicillin in 1928, charting the rise of antibiotics alongside the accelerating global crisis of antimicrobial resistance (AMR). It’s a powerful reminder of the need to address AMR. Antibiotics are fundamental to modern medicine, but more people are contracting drug-resistant superbugs than ever before - and AMR is predicted to cause 10 million global deaths each year by 2050 if no action is taken. In a year of change, it’s vital that all political parties recommit to the UK’s 2040 vision for AMR as well as supporting efforts ahead of the UN General Assembly High-Level Meeting on AMR this September. “Lifeline” also illustrates the arts’ unique ability to communicate complex scientific ideas in a way that can enrich our understanding and compel us to action. As Wellcome’s Danielle Olsen has said: “A moving story well told can be more memorable than a list of facts”. The documentary “Race Against Resistance: The Life And Death Struggle To Save Antibiotics” is another good example of this dynamic: https://lnkd.in/eCwtagie The film, produced by BBC StoryWorks and funded by Pfizer and other partners, brings to life the very real threat of AMR by combining stories from people who have experienced drug-resistant infections with the actions being taken by scientists, innovators and researchers to tackle this global health threat. Its aim is to raise awareness of AMR as a global health crisis, and highlight what we can all do to help. #AMR #AntimicrobialResistance #ScienceCommunication #ArtsInScience #PublicHealth
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The discussion around this on Wednesday blew my mind. All Australians should have access to Pharmacogenomic testing, which should be part of the treatment plan. The Royal College of Pathologists of Australasia (RCPA) Pharmacogenomic Advisory Committee and all the speakers from Wednesday are doing amazing work at pushing for public funding through MBS. #KESelect #Pathology #Pharmacogenomics
#MediaRelease The RCPA is calling for urgent action to improve access to pharmacogenomic testing across Australia. With a growing demand for pharmacogenomic testing, the RCPA’s recommendations include expanded public funding through the MBS, better education for patients and clinicians, and research to understand genetic variation in Australia, including Aboriginal and Torres Strait Islander peoples. “Each year an estimated 250,000 hospital admissions in Australia are due to medication-related issues, costing the healthcare system $1.4 billion. Two-thirds of these are potentially preventable, highlighting the need for expanded access to pharmacogenomic testing” - Dr Sophie Stocker, Co-Chair of the RCPA Pharmacogenomic Advisory Committee. Read the full media release: https://lnkd.in/gTUUusWd
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🌍 I’m grateful to have presented two of my PhD papers at INHSU 2024 in Athens! 🌍 This year’s conference was held from 8-11 October and featured over 100 sessions on critical topics related to hepatitis C, harm reduction, and drug policy. I had the opportunity to share findings from two of my PhD chapters: - “Acceptability of Community-Led Hepatitis C Testing Models in Australia Among People Who Inject Drugs: Bridging the Remaining Gaps” – This research emphasises the importance of client preferences for rapid-result testing and the role of non-judgmental care in improving access to services. - “Choice of HCV Testing Modality Among People at Risk of HCV Infection: The SELECT Study” – Our findings demonstrated a strong preference for staff-assisted tests over self-testing options, highlighting the need to tailor testing approaches to enhance uptake among at-risk populations. Connecting with so many passionate colleagues dedicated to advancing health outcomes for communities affected by hepatitis C and substance use was incredibly inspiring. Together, we can make strides toward eliminating hepatitis C as a public health concern. #INHSU2024 #HepatitisC #PublicHealth #HarmReduction #CommunityHealth #Research
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Act&MR works for : Hervé Bonnaud and Nex&Com, Advises for Rare diseases and especially for Hematology disorders Biogen, Animate commercial team thoughts around Patient Journey for Neuro-degenerative Diseases ( Multiple Sclerosis , Friedreich Disease (Ataxia)): 1/ Health Economy in France and Market access Impact for innovative drugs 2/ MoH, Hospital and Community organization (with IFIS - Institut de Formation des Industries de Santé and Pierre LE COZ) : A. MoH Organization and Fouding laws, B. ARS , Hospital, Reference centers, Rare diseases Care networks, C. MDS, CPTH, DAC Roles , D. Community stakes : GP and Pharmacist involvments 3/ Article 51 : with francois richou (Government Health Care) : ideas and future developments
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