Abbott Research Group hosts the first ever EEF1A2 Community Conference
Families, researchers and clinicians from all over the world attended online for a 3-hour programme of presentations on EEF1A2-related neurodevelopmental disorder, organised by PhD student Heather Love.
In the first session, EEF1A2 researchers from the University of Edinburgh delivered talks on their work. Heather Love presented a primer on EEF1A2 and the science behind the disorder, Professor Cathy Abbott highlighted research challenges and opportunities, and flash talks on current research methods were given by Dr Grant Marshall, Dr Cavan Bennett-Ness and PhD student Tamsin Baxter.
The second session focused on different elements of care. Professor Richard Chin gave an overview of epilepsy and seizures, Dr Lindsay Mizen presented her work on sleep in SYNGAP1-related intellectual disability and how this may be applied to EEF1A2 in the future, and Izy Utley gave a talk on strategies for supporting communication.
Attendees asked questions throughout all the talks, which were answered by the speakers during a panel Q&A session. Finally, Monica Coenraads talked about her patient advocacy journey; Monica is the founder and CEO of the Rett Syndrome Research Trust and the mother of an adult daughter with Rett.
Although it wasn’t possible to bring everyone together in person, attendees received ‘conference packs’, with notebooks, pin badges and new information materials about EEF1A2 disorder. The conference programme was developed based on input from the community to ensure the talks would be relevant and useful for them. The talks are available online as a resource to try to meet the need for more accessible information about EEF1A2.
Click here to watch the conference talks (external link).
Conference attendees provided the following quotes describing their experience of the event:
Thank you for educating us, spreading awareness and all the ongoing research efforts- it’s wonderful to connect with the broader community!
Thank you for doing this. To put not only a name but also a lovely community to my child’s disorder is a blessing.
This was a wonderful conference that gave me lots of hope and even more appreciation to your lab!
The science and variants was a lot to absorb although very useful to understand the varying degrees of EEF1A2 in our kiddos. Thank you so much for providing the opportunity and environment to learn and understand the work being done by all you fantastic people!
The conference was made possible by the Engagement for Impact PhD programme, funded by CMVM & University of Edinburgh/Wellcome ISSF3.