PhenoTips

4 #RiskAssessment models, 1 click. Take advantage of the information stored in a family's pedigree. Launch #Gail, #IBIS, #CanRisk, & #PREMM5 simultaneously for any family member in a pedigree, saving up to 45 minutes per patient. Learn more about the #CancerRiskAssessment add-on to the #GenomicHealthRecord: https://lnkd.in/d8-9tedM

PhenoTips' #pedigree-embedded cancer risk assessment now includes the official #CanRisk model. CanRisk is now one of four models launched and run simultaneously from within a family's #PedigreeChart. Learn more about the one-click #CancerRiskAssessment add-on to the #GneomicHealthRecord: https://lnkd.in/d8-9tedM

Yesterday marked the 3-year anniversary of our #SpeakerSeries #webinar "Navigating #WholeGenomeSequencing (#WGS) in the Clinic". Stream the complete discussion to discover how genetic testing technology is expected to evolve and alter the testing landscape from Children's Hospital of Philadelphia's Dr. Ian Krantz, Boston Children's Hospital's Dr. Olaf Bodamer, University of Colorado School of Medicine's Dr. Austin Larson, and host Dr. Pawel Buczkowicz, PhD. Stream it on demand for free: https://lnkd.in/gVb4XGea

Last month, for #ChildhoodCancerAwarenessMonth, we spoke with CEO Dr. Pawel Buczkowicz, PhD to understand how his research on high-risk #ChildhoodCancer sparked his passion for solving roadblocks in #RareDisease and #Genomic research and medicine. "Giving clinicians the tools in PhenoTips software—integrated with their existing workflows—to provide them with the insights they need to care for their patients is what drives me today." Without the tools to enable genomic decision-making and collaboration, life-saving research for our most vulnerable community members can become complicated and slowed, preventing invaluable and timely breakthroughs. Read the #blog: https://lnkd.in/d4aRn7MC

We are thrilled to announce that Oxford University Hospitals NHS Foundation Trust is accelerating its #DigitalByDefault strategy by harnessing PhenoTips' #GenomicHealthRecord (GHR) to digitise, integrate, and standardise #genomic care. Facilitated by TheHill, the #GHR will replace multiple separate digital and physical systems used by the Oxford Centre for #GenomicMedicine with a single, unified, electronic patient and family record. Nigel Parkin, Service Information and Digital Lead for the Medicine, Rehabilitation and Cardiac Division and TheHill Digital Ambassador said: “It is exciting to work with PhenoTips to bring this identified best in class product to OUH, with contextual information, family records are very difficult to manage in most electronic patient record systems and PhenoTips brings this into play for Genetics. I’d like to express my thanks to Carl Marshall and RAY BANKS from the OUH Digital Team for supporting the integration.” Read more: https://lnkd.in/ejPyRhiw

ChatGPT and other LLMs are increasingly being used by rare disease patients and researchers. How do we increase the reliability and safety of the information they provide, especially in such sensitive contexts? This project is an exciting development: creating an expert system for Ehlers-Danlos Syndrome using LLM fine-tuning and RAG. I'm thrilled to have been part of the team that built this at the recent Rare Disease AI Hackathon, organized by the Stanford Department of Medicine and Research to the People. Karthik took the stage at GitHub HQ to present our work to a distinguished audience, including OpenAI President Greg Brockman and The Ehlers-Danlos Society. 🤩 Take a look at his writeup for more details!

For #ChildhoodCancerAwarenessMonth we spoke with PhenoTips' CEO Pawel Buczkowicz, PhD to learn more about his pivotal research on #pediatric #BrainstemGlioma. In this conversation, we discovered how Dr. Buczkowicz's search for answers for #ChildhoodCancer inspired him to dedicate his career to #GenomicSoftware solutions that enable data standardization, sharing, and interoperability. 👉 Read the full #blog here: https://lnkd.in/d4aRn7MC #RareDisease #CCAM24 #CCAM

We are proud to support 4 of Newsweek's top 12 children's hospitals in the world with their own complete #GenomicHealthRecords. Congratulations on this well-deserved honour The Hospital for Sick Children, BC Children's Hospital, Vancouver, Alberta Children's Hospital, CHEO, CHU Sainte-Justine, and Great Ormond Street Hospital for Children NHS Foundation Trust. We look forward to witnessing your continued innovations in pediatric research and care!

What is an Undiagnosed Hackathon? Have you ever wondered how an Undiagnosed Hackathon can make a difference for People Living With Undiagnosed Diseases (PLWUD)? With over 350 million people worldwide affected by undiagnosed diseases, this unique event brings together multidisciplinary teams of clinicians, bioinformaticians, molecular biologists, scientists, developers, AI experts, and other brilliant minds. Their goal? To tackle some of the most complex medical mysteries and provide new pathways to diagnosis. Stay tuned for the exciting announcement at the end of our video, where we’ll reveal the location and date of the next Undiagnosed Hackathon! Join us in the mission to end the diagnostic odyssey for PLWUD. Together, we can make a real impact! Pioneered by Wilhelm Foundation https://lnkd.in/gnPPZYDE #Undiagnosed #UndiagnosedHackathon #PLWUD RARE DISEASES INTERNATIONAL Rare Disease Ghana Initiative EURORDIS-Rare Diseases Europe ERN ITHACA Radboudumc Alexander Hoischen Wendy van Zelst-Stams Lisenka Vissers Ann Nordgren Angelica Maria Delgado-Vega Anna Lindstrand Karolinska Institutet Karolinska Universitetssjukhuset AIME LUMAKA prince makay PhenoTips Orion Buske

This month is #NewbornScreeningAwarenessMonth. Watch our #SpeakerSeries #webinar "The Future of #PediatricGenetics" on-demand to find out how the Chief of the Division of Medical Genetics at the University of Pittsburgh School of Medicine, Dr. Jerry Vockley, and President and CEO of Rady Children's Institute for Genomic Medicine, Dr. Stephen Kingsmore see #NewbornScreening evolving to become integral to #PrecisionMedicine. Watch the complete discussion hosted by DNA Today's Kira Dineen, MS, LCGC, CG(ASCP)CM: https://lnkd.in/d7pReSYD