MEC_Impact Report_2026 - Flipbook - Page 16
Impact Report 2026
Associate Professor Nikolas Pontikos
Eye2Gene harnesses AI to identify genetic causes of sight loss
This year, we were delighted
Associate Professor Nikolas
to share the news of a new
Pontikos said:
artificial intelligence (AI)
tool developed by one of our
We were surprised
Moorfields Eye Charity
many patients don’t fully
funded researchers that could
helped us turn years of
understand or remember
transform the diagnosis of
patient data into a tool that
their genetic diagnosis. Some
inherited retinal diseases.
can transform diagnosis
want to know the outlook,
The breakthrough builds
and care for people with
others prefer less detail.
on support from Moorfields
inherited eye conditions.
Eye Charity, including a
None of this would have
Reports that combine AI
career development award
been possible without the
results with expert guidance
in 2019, which helped lay
career development award
and focus on therapies and
the foundations for this
from Moorfields Eye Charity.
next steps, can help patients
pioneering research.
stay engaged and hopeful.
The tool is not a replacement
This approach has raised
Developed by researchers
for genetic testing, which
awareness and helps to
at Moorfields Eye Hospital
remains the gold standard.
improve understanding of rare
and the UCL Institute of
However, it can improve
genetic eye diseases.
Ophthalmology, the tool,
the speed and accuracy of
called Eye2Gene, uses retinal
genetic diagnosis by helping
Eye2Gene is already available
images to predict the genetic
to interpret results and
online for research and
cause of a patient’s condition.
streamline referrals.
integrated into some clinical
A recent study, published in
imaging systems from
Nature Machine Intelligence,
The research team worked
Heidelberg Engineering.
analysed data from nearly
closely with patients to co-
With additional funding from
4,000 patients across six
design the Eye2Gene website
Sight Research UK and the
international centres and is
and Eye2Gene reports, ensuring
Medical Research Foundation,
the largest of its kind.
clear, sensitive communication.
the team is now preparing
This prompted the team to
for further validation in
create digestible information
NHS clinics and across
patients can review after short
international centres.
consultations.
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Professor Pontikos added:
