On 12th September, Ataxia UK hosted its first networking event for UK-based researchers in London. We were excited to welcome almost 50 attendees, including researchers, clinicians, Ataxia UK representatives and two people with ataxia. Representatives from research teams across the UK attended, including the three Ataxia centres in London, Sheffield, and Oxford. We invited participants to present research on a range of ataxias, and share information, resources, and expertise to foster collaboration.
Participant feedback was very positive; 92% of survey respondents said the event was extremely or very useful for improving their knowledge of research engagement opportunities.
Dr Sara Anjomani-Virmouni, who spoke at the event on her research at Brunel University, said this:
“The event organised by Ataxia UK provided an excellent opportunity for the scientific community in the UK to showcase their research on recent advances in the field and provided a forum for networking and exchanging ideas.”
An example of the research presented was Dr Natalia Gromak’s talk on her work at the University of Oxford on the role of unusual structures called R-loops in cells of people with Friedreich’s ataxia (FA). Despite the genetic cause of FA being identified in 1996, we do not fully understand how it causes FA, representing a major challenge in developing therapies. The team saw that R-loops form around the mutation which causes FA, contributing to development of FA symptoms. This suggests R-loops could be targeted in new FA treatments.
Dr Rosella Abeti and Dr Suran Nethisinghe shared their team’s research at the London Ataxia Centre into potential treatment approaches for FA, including lab-based studies that contributed to building evidence for the Omaveloxone, also known as SKYCLARYS®, drug approval by the US Regulators, FDA, in FA.
The event sparked discussion on collaboration between physiotherapists and healthcare professionals supporting ataxia patients. Dr Lisa Bunn, University of Plymouth, shared her team’s success with the ‘A-team’ forum in partnership with the Cosmic Kids Yoga YouTube channel, sharing physiotherapy exercises for children with Ataxia Telangiectasia in a fun and engaging way.
Including people with ataxia in research
As part of this event Ataxia UK hosted a Q&A on patient engagement in research with Ataxia UK Trustee Harriet Brown and Yanita Oparlakova, who live with ataxia and are lay members of the Ataxia UK Scientific Advisory Committee. This committee comprises scientists and clinicians, advising Trustees on which research to fund. Including people with ataxia ensures patient voices are listened to. Harriet said:
“We feel like our contributions to this committee are acknowledged as important and we are truly listened to.”
Harriet was diagnosed with FA at 15, but when the genetic test for FA was developed, she was later told she did not have FA, so does not know the cause of her ataxia.
“When I was diagnosed with FA, just six ataxia genes were known. Now there are 100s! That shows how far we have come,” Harriet remarked.
Harriet volunteers with Ataxia UK’s research ethics committee reviewing research surveys to make them as ethical as possible. Ataxia UK invites patient engagement in research and its processes. Harriet also represents Ataxia UK in a Medicines and Healthcare products Regulatory Agency (MHRA) patient engagement group.
Yanita (left) and Harriet (right)
Yanita was diagnosed with FA in her 20s and took part in the SKYCLARYS® (Omaveloxolone) clinical trial.
“I’m so glad I could take part in the trial and be part of the research for a drug that is now approved by the FDA,” Yanita shared.
Yanita also featured on BBC Breakfast programme on 22nd January 2023 to highlight ataxia research and raise awareness.
Dr Esther Becker, who presented a talk on the research into cerebellar ataxias at the University of Oxford, reflected on patient engagement in ataxia research:
“I especially valued meeting patients with ataxia and learning about their day-to-day experience with the disease. Hearing from patients gives us researchers extra inspiration and motivation to go back to the laboratory and help find a cure.”