An award of up to $35 million from the US Department for Health and Human Services’ rare disease AI/ML for precision integrated diagnostics programme is set to support UNC Health build a data resource for rare disease AI.
According to UNC Health, the new data resource will support clinicians and researchers identify patterns and develop research further into rare disease diagnosis and care. New and existing tools will help enable analysis of this large-scale clinical and biological data, with the ambition of promoting earlier diagnosis and treatment discovery.
Teams from UNC and Emory University will source data from real-world sources such as patient registries, UNC states, as well as looking to direct patient data acquisition and to build a research platform for use by the rare disease community. Names and identifying information will be removed prior to the data entering the resource, and whilst some datasets will be publicly available, others will require data usage agreements or other safeguards.
The project also relies on collaboration from a public-private partnership with academic institutions and industry partners, including Johns Hopkins University, the National Organization for Rare Diseases (NORD), Queen Mary University of London, the University of California at San Francisco, and the University of Iowa. Programme support will reportedly be provided by OpenAI, Anthropic, Amazon Web Services, and Google.
Melissa Haendel, the project lead scientist and professor in the UCN School of Medicine’s department of genetics, said: “Our aim is to create a large-scale dataset spanning approximately 2,700 to train models that can then be deployed in diagnostic settings where we don’t have such rich data. If we can build models based on the rich data, we can build clinical decision support tools that either diagnose patients in less sophisticated settings or help move those patients along.”
Finding eligible patients for trials on rare diseases can be challenging, Haendel continues. “By securely bringing together more data, we hope to develop algorithms to identify trial participants more efficiently, accelerate research, and expand access to clinical care.”
Wider trend: Health data
Humber and North Yorkshire ICB has announced the expansion of a data dashboard developed in partnership with York and North Yorkshire Combined Authority, aiming to support a “more coordinated approach” to improving health and helping people into work. The People Story Dashboard aligns data with the boundaries of York and North Yorkshire Combined Authority, Hull and East Yorkshire Combined Authority, and Greater Lincolnshire Combined Authority. It has been made available, according to the ICB, to inform local planning and commissioning decisions for local partners across the region.
The North West Secure Data Environment (SDE) has made seven funding awards through its data accelerator fund for novel and emerging assets, designed to support “better use of health and care data”. Funding of between £36,000 and £132,000 has been awarded to seven NHS trust and University-led projects, with recipients including Mersey Care, Cheshire and Wirral Partnership, and research teams from the University of Liverpool; Clatterbridge Cancer Centre and research teams from the University of Liverpool; University Hospitals of Liverpool Group and research teams from the University of Liverpool; and Wrightington, Wigan and Leigh.
South East Coast Ambulance Service (SECAMB) NHS Foundation Trust has shared insights and upcoming milestones from its digital transformation programme, noting details of work around data, AI, and auto-dispatch. Delivery of a core cloud-based data platform remains “on track”, the board shares, an enterprise architect has been appointed, and a data and AI strategy is being developed.
