Mendelian

Mendelian is excited to part of Health Innovation Oxford & Thames Valley “Power of Digital Health Partnerships” event today. To hear more about our great work with our NHS partners come and talk to us at our stand! #DigitalHealthOx #raredisease #rarediseases #diagnosticodyssey

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

🚨 Exciting News! The rare disease community just submitted a sign-on letter to Congress, with 100+ patient orgs and advocates touting the establishment of an FDA Rare Disease Center of Excellence in the 2025 approps bill. This center aims to streamline the regulatory process for rare disease therapies, bringing hope to millions affected by rare diseases. 🧬💪 Read the full letter and learn more about this initiative here: https://bit.ly/RDCOE #RareDisease #Advocacy #Healthcare #FDA #Congress #budget

🎉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

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

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. 

🦓 #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

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

Thank you for the support Optimum Patient Care and the vital service OPCRD provides!

In the UK alone, every day, 9 children are born with a rare, treatable genetic condition. In a world-leading research project, Genomics England will be testing 100,000 new born babies for 223 different #rarediseases. Such a valuable step for the future of healthcare! https://lnkd.in/emkTkmSR