Mendelian

Mendelian was proud to participate in Chiesi Group's "Reducing the Burden of Rare Diseases across the Patient Journey" session at the World Orphan Drug Congress. Our CEO, Peter Fish, joined a panel of experts to discuss how industry, R&D, AI, HTA, and health systems can collaborate to improve the lives of those living with rare diseases. Peter highlighted the critical role of technology and AI in accelerating diagnosis for rare disease patients, a crucial step towards improving patient outcomes. #RareDisease #WODC #AIinHealthcare

It's inspiring to be at #WODC with so many people committed to improving the lives of those with #RareDiseases! ✨ At Mendelian, we're harnessing the power of #AI to accelerate diagnosis and help patients get the care they need, faster. Visit us at booth 83 to learn more! Peter Fish Freya Boardman-Pretty Calum Grant Elizabeth V.

Mendelian is heading to #WODC in Barcelona! We're eager to contribute to the conversation on accelerating diagnosis and improving care for individuals with rare diseases. Our team will be presenting our work and research on DiGeorge Syndrome, Paroxysmal nocturnal hemoglobinuria (PNH), and Inherited Retinal Diseases, as well as sharing insights on NHS case-finding implementation. #RareDisease #OrphanDrugs #Mendelian Peter Fish Calum Grant Freya Boardman-Pretty Elizabeth V.

Thanks to the RARE Revolution team for writing up a bit on our work within the NHS and a big thank you to our PPI group who joined us for our NHS AI in Health and Care Award project!

As we finish the first part of the ABHI Trade Mission to Tennessee and head to Memphis, here are my thoughts on our visits to various health systems in Nashville. This is the first of a number of posts as we explore Tennessee Healthcare in more detail. The first visit was to Womble Bond Dickinson (US) LLP, a large legal firm who help companies to set up in Nashville and to navigate the intricacies of the US market. It was great to meet Lori Odom SVP of Nashville Area Chamber of Commerce, Elise Cambournac President and CEO of the Greater Nashville Technology Council. Thanks also to John Scannapieco and Eric Thrailkill for their additional invaluable insights. Nashville has a population of around 2 million people with an increasingly diverse community. It is rapidly expanding as a hub for innovation and Oracle has announced it will move its global headquarters to Nashville. The main drivers of the economy are Health Care $68.0B Advanced Manufacturing $70.8B Music & Entertainment $70.8B Tourism & Hospitality $70.8B Underpinning this is the technology sector with a vibrant community with an $8B impact with 63000 jobs. Nashville has the 5th highest rate of job growth in the US at 32.5% A visit to the Nashville Entrepreneur Center hosted by Haley Combs confirmed the drive for innovation and encouraging the start up community in Nashville providing courses, mentorship and support. Their accelerator runs for 3 - 6 months and can be joined remotely with a single in person event. This is worth considering if a company particularly in healthcare wants to enter the market in the US. There are a number of major healthcare systems in Nashville including the global headquarters of HCA Healthcare and Lifepoint Health® as well as other major academic systems including Vanderbilt University Medical Center. Paul Benton David Laith Rawaf, MD Neville Young Andy Mears Matthew Khoory Sophie McIlveen Jamie Hall David Meek Peter Fish Lottie McMahon @Andrew Mcdonald.

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