Phesi founder: digital twins offer potential for combatting rare diseases
21 Feb 2026
Digital twins are offering new therapeutic possibilities for diseases where the number of sufferers is small and for which little data exists, says a leading clinical trials expert.
Dr Gen Li, founder and president of Phesi said that advances in analytics had increased the potential contribution of digital patient profiles and digital twins.
Speaking before Rare Disease Day on 28 February, Li remarked: “While they are not a silver bullet, digital twins offer new avenues of hope where traditional trial designs are impractical, and regulators are increasingly open to alternative forms of evidence.”
Developing treatments for conditions where patient numbers are small and data is scarce created a persistent problem, he continued. Confidence in clinical development relied upon empirical evidence, yet rare diseases lacked the necessary data for randomised controlled trial models.
However, digital patient profiles (DPPs) that underpinned the creation of digital twins could now be created more quickly Li said. These were fact-based and data-driven, grounded in contextualised treatment settings, investigators and patients across global datasets spanning hundreds of millions of patient records, he added.
“Rare Disease Day is a reminder that for many patients, long diagnostic timelines and limited treatment options are a reality,” said the Phesi chief.
“With the right data and AI to support curating, modelling and analysing outcomes, the industry has an opportunity to run faster, more efficient trials and make better use of limited and hard-to-reach patient populations.”
Phesi noted the American FDA’s new approval route for personalised genetic therapies that could bypass traditional randomised trial models, which the company said demonstrated “increasing acceptance of external evidence, digital twins and external control arms alongside smaller patient cohorts”.
“For rare disease patients who currently have few or no options, finding a better approach to treatment is urgent,” Li commented. “Ultimately, the goal is to reduce uncertainty and help bring new treatments to patients sooner.”
SLC6A1 Connect, the advocacy group for the neurological condition SLC6A1, highlighted recently that in the United States just 5% of more than 7,000 rare diseases currently have an FDA-approved treatment.
Li said greater openness from regulators to alternative sources of evidence such as digital twins would enable a rethink of rare disease trials to combat “a significant unmet need” in rare disease clinical development.
Pic: Ahmad Ardity
