Our team have authored a few great articles this year already: ⋅ Lost in the System: The Labyrinth of Rare Disease Diagnosis - EMJ - https://lnkd.in/ge9Bimuy - Peter Fish ⋅ The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study - Journal of Clinical Endocrinology & Metabolism - https://lnkd.in/g4Vib3T2 - Nadine Sawoky - Kyowa Kirin International plc. #xlh ⋅Identifying patients with undiagnosed small intestinal neuroendocrine tumours in primary care using statistical and machine learning: model development and validation study - British Journal of Cancer - https://lnkd.in/gUA6XTjx - Innovate UK #neuroendocrinetumours #NETs ⋅ A Machine Learning Algorithm for the Detection of Paroxysmal Nocturnal Haemoglobinuria (PNH) in UK Primary Care Electronic Health Records (preprint) - BMC Primary Care - https://lnkd.in/gAYKRV7D #pnh #raredisease #rarediseases #diagnosticodyssey
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🎉Thrilled to announce Mendelian has been selected as an AI partner within the NHS Genomic Medicine Service Alliances' (GMSAs) Genomic Network of Excellence in AI project (GAIN)! 🚀 Why this matters: NHS Validation: This partnership signifies strong NHS England commitment to integrating cutting-edge AI solutions, like our clinical support tool MendelScan, for improved patient care for rare and hard-to-diagnose diseases. Rare Disease Focus: We'll work directly with the GMSAs (Central and South and South East) to accelerate the early diagnosis of rare diseases, transforming outcomes for patients. Additionally, we have dedicated work streams on phenotype-led algorithms (inherited retinal disease, inflammatory bowel disease and epilepsy) and early cancer detection and cancer predisposition algorithms. National Impact: This two-year project (starting this month) has the potential to reach a population of around 20 million patients, demonstrating the scalability of our technology and setting the foundation for further NHS expansion. Innovation Hub: The GAIN project positions the UK as a leader in AI-driven genomic medicine, attracting global attention. We're excited to collaborate with industry partners and investors who share our vision of a future where AI revolutionises healthcare. Let's connect! #AI #Genomics #NHSInnovation #RareDiseases
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This week Hadley Mahon, our Chief Business Officer, will be in Maryland and Minnesota as part of the ABHI US Accelerator. She'll be be meeting representatives from The National Institutes of Health, LifeBridge Health, University of Maryland, Baltimore (UMB), University of Maryland Medical System, Johns Hopkins Hospital, Johns Hopkins Technology Ventures (JHTV), MedStar Health, Children's National Hospital, Medical Alley, Mayo Clinic, Destination Medical Center (DMC), Hennepin Healthcare, Medica, Elevance Health, Gillette Children's, Minneapolis Heart Institute Foundation and Fairview Health Services! #rarediseases #raredisease
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Deborah Richards' piece in the Guardian Rare Disease supplement underscores the importance of leveraging technology and working collaboratively to create the environment for widespread change. We are proud to collaborate with Alexion Pharmaceuticals, Inc. to help drive earlier diagnosis of #rarediseases through AI-powered technology.
Weekly Rare Update People living with a rare disease in the UK face daunting hurdles: lengthy delays to diagnosis, few or no treatment options, and inequitable access to care they need. Whilst measures are being taken to improve health equity for this community, there is more to be done. Last week, on Rare Disease Day 2024, I've contributed to the Guardian Rare Disease supplement discussing on how AI offers hope to streamline diagnosis including the work undertaken with Mendelian, and how policy reforms and collaborative efforts are crucial to improve the pathway for patients with rare diseases. I firmly believe that through advances in technology, and through multidisciplinary collaboration, we can find solutions and effect positive change for the people living with rare diseases. #RareDisease #RareDiseaseDay Alexion Pharmaceuticals, Inc.
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🦓 #showyourstripes 🦓 "When you hear hoof beats behind you, don't expect to see a zebra" - Theodore Woodward Rare diseases are often referred to as “zebras” by medical professionals due to their rarity and the lack of awareness. But rare diseases are not rare - 1 in 10 people are affected by a rare disease at some point in their lives. On this #rarediseaseday, we stand with people affected by rare diseases and honour their unique journey. Medics 4 Rare Diseases, Freya Boardman-Pretty, Rand Dubis, Elena Marchini, Elizabeth V., Calum Grant, Jack Sams
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Peter Fish is leading a conversation on the role of technology in rare disease registries and diagnosis at the Europe Rare Disease Summit in Madrid on the 14th February 2024. Read a recent article Peter wrote up ahead of the summit on the impact of diagnosis in rare diseases here: https://lnkd.in/eWGpXgdC #raredisease #rarediseases
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Thank you for the support Optimum Patient Care and the vital service OPCRD provides!
Great to see our friends at Mendelian presenting some of the brilliant work they've been doing in the field of DiGeorge Syndrome at the Digital Health AI and Data Conference, using OPCRD data. Learn more about OPCRD here: http://wix.to/GZiTBZm #AIDATA23 #ResearchInRealLife #ResearchDatabase
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Founder at Project Y
2dBeautifully written Peter… we sometimes get asked… where are all the rare diseaes patients… well, they are hiding in plain sight. Have you ever contrasted the stars you can see when the sky (system) is obscured by the lights and air particles of the city, versus the unbelievably spectacular and numerous stars you can see in the sky (system) in very remote areas, like outback Australia. The stars are there, it is that sometimes they are hiding in, or hidden from, plain sight