CASE STUDY
Validation of an online platform (Dx29) to accelerate diagnosis of rare diseases
UNMET NEED
There are over 8,000 known rare diseases. Providing accurate and quick diagnoses for children with rare diseases is therefore very challenging. About 75% of children with a rare disease die before their 5th birthday. It is therefore critical that suspected rare diseases are diagnosed and treated quickly.
SOLUTION
Dx29 is a unique diagnostic platform developed by Foundation 29, an NGO backed by Microsoft Research. Dx29 uses artificial intelligence and deep machine learning to empower clinicians and help speed up the diagnosis of rare diseases. The platform enables healthcare professionals to turn symptoms, genetic information, and global knowledge and resources into accurate diagnoses for a wide range of disorders. This project will validate Dx29 for the first time in NHS settings.
STAGE OF DEVELOPMENT BEFORE WORKING WITH NIHR CYP MEDTECH
Basic idea
Concept development
Prototype development
Prototype validation
Clinical testing
Regulatory approval
Manufacturing
Commercially available
SUPPORT PROVIDED BY NIHR CYP MEDTECH
Support and guidance to secure funding
NIHR CYP MedTech provided the seed funding to conduct the initial study.
Co-design workshops
NIHR CYP MedTech will work with the wider project team to plan and deliver co-design workshops for families affected by a rare disease.
Project management
NIHR CYP MedTech is providing oversight of the project and managing the project on a day-to-day basis.
NEXT STEPS
A team of healthcare professionals, led by Dr Larissa Kerecuk (Rare Diseases Theme Lead), will conduct a feasibility study to determine the effectiveness of Dx29. Should Dx29 prove to be accurate in NHS settings, funding will be sought to conduct a multi-centre randomised controlled trial. This trial will determine whether Dx29 improves diagnosis of suspected rare diseases in children and young people.
IMPACT
Many rare diseases have no cure. However, rapid and accurate diagnoses can increase the likelihood of survival and improve quality of life. Aggregating genetic data about rare diseases also allows us to more accurately identify the causes of these diseases and may help us identify of new disease pathologies and viable treatment pathways.
FUNDING
Foundation 29 and Microsoft Research are providing Dx29 and cloud capabilities free of charge. Seed funding has been provided by NIHR CYP MedTech to conduct the initial study.
PARTNERS
Last updated: 18 May 2022
