12 Oct, 2020

Patient-focused collaboration to accelerate personalised-medicine for genetic eye diseases

A partnership between The University of Manchester and Sano Genetics will develop vital new datasets.

A new collaboration between Sano Genetics and Dr Jamie Ellingford, a postdoctoral researcher at The University of Manchester, is aiming to accelerate research in genetic eye diseases.

The Innovate UK funded project aims to build a unique database of genomic and patient-reported data. Gathering and unifying data using Sano Genetics’ online platform and at-home DNA testing kits, researchers will be able to use the database to identify how genetics can impact disease outcomes.

Working closely with patients, clinicians and genomics scientists, one of the key aims of the project is to ensure that any new discoveries will directly benefit patients and translate into better outcomes in a healthcare context.

Patient-focused research

Dr Patrick Short, CEO of Sano Genetics, said: “We’re excited to have the opportunity to work with Dr Ellingford - he is a brilliant and collaborative scientist. He has identified important challenges and research questions that we believe our technology and approach can help solve, and we are really excited to start the project.”

“Our hope is that the project will produce results which can be put to immediate use in risk prediction and treatment of genetic eye diseases.”

The project will run for two years with a focus on understanding why individuals with the same genetic variation in their DNA can experience a different level of disease severity, or in some cases no disease at all.

Understanding different symptoms

Dr Ellingford, who is a leading expert in rare disease genetics and has made substantial contributions to understanding why patients with the same genetic variants can have widely different symptoms, added: “I’m really excited to be working with Sano Genetics over the next two years. The dynamic, fast paced and patient-focused nature of Sano’s work means that insights from this project will not only help us understand how genetic eye diseases develop but also lead to immediate improvements in the diagnosis and management of individuals with genetic eye diseases.

“We hope that uncovering some of the genetic modifications (genetic faults), associated with these conditions will help us predict risk of blindness and will pave the way for the development of new treatments.”

What next?

In the long term, the project aims to set a precedent for patient-focused research. Keeping participants in the loop through an online platform improves the experience for participants and opens up new opportunities for patient-focused research.

Photo credit: Erik Mclean - Unsplash
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