Rare Disease Day 2023 Round Up

Rare Disease Day 2023 has been a hectic yet hugely rewarding time for the Wellcome Centre for Mitochondrial Research (WCMR) team who have been busy raising awareness of mitochondrial disease and dysfunction through several activities and events across the UK and beyond!  Read our Rare Disease Day roundup to find out more.

By Lyndsey Butterworth

Parliamentary Receptions

Members of the WCMR team were delighted to be invited to join the rare disease community at a number of parliamentary receptions held across the UK to mark Rare Disease Day. These events, organised by Genetic Alliance UK and the Northern Ireland Rare Disease Partnership, offered an invaluable opportunity for our team along with patient and caregiver representatives to share their experiences of mitochondrial disease and the importance of investing in the mitochondrial research that provides hope for a cure. The team met some amazing people, including Helen Whately MP, Minister of State in the Department for Health and Social Care, and heard some truly inspirational patient stories on their tour of the UK nations and would like to thank everyone who came together to make these events such a success.

Genetics Matters Event

The WCMR team were excited to be at the 7th Genetics Matters engagement event organised by Dr Kasia Pirog that saw >100 members of the public visit the Discovery Museum for an afternoon of free hands-on activities and an opportunity to meet the scientists leading on rare disease and genetic research across Newcastle University. Our WCMR table offered people the chance to ‘pipette a rainbow’ and make mitochondrial DNA bracelets, whilst also hearing about how mitochondria function, how mitochondrial disease is inherited and diagnosed, our research that is investigating the causes of mitochondrial epilepsy and our drug discovery that is screening thousands of compounds to identify a much needed therapy.  It was a fantastic afternoon and we would like to offer our sincere thanks to everyone who joined us for their enthusiasm and brilliant questions about our mitochondrial research.

First WCMR Away Day

The WCMR team were proud to come together on Rare Disease Day for our first WCMR Away Day at The Core in Newcastle. The event, opened by Centre Director Professor Grainne Gorman, was an incredible opportunity for our multidisciplinary team to share what we all do across the Centre to transform the lives of those affected by mitochondrial disease and dysfunction. This was done through a series of short talks with question and answer sessions, and graphical abstracts from each research theme as a way to support the exchange of knowledge, concepts and ideas.

This was followed by a team building activity that saw smaller groups develop and deliver a research proposal, with prizes for best poster and best group work presented by Dr Laura Greaves and Dr Gavin Hudson at the end of the day. We would like to offer our thanks to everyone for such a positive and inspiring day, with a special mention for those involved in the organisation and running of the event, including Dr Katja Menger, Dr Christin Albus and Deborah Little.

WCMR Global Tweetstorm

Our WCMR ‘tweetstorm’ was a unique opportunity for the global mitochondrial community to come together and share key messages via social media to help raise the profile of mitochondrial disease as part of Rare Disease Day. This involved posting a Twitter thread on our @mitoresearch account that was retweeted by our global network throughout the day.

In total, 25 organisations from across the world joined us to amplify key messages and help raise the profile of mitochondrial and rare disease for the benefit of the global community. Our analytics show that the Twitter thread shared on Rare Disease Day reached over 24,500 people, which is incredible and really highlights that together we are stronger.  We found the initiative hugely impactful and are incredibly proud to be part of such a dedicated and well connected global community.

Newcastle Rare Disease Symposium

The symposium, organised by the Newcastle Centre for Rare Disease Research to mark Rare Disease Day, was a fantastic opportunity to bring together researchers from across Newcastle University with industry and patient representatives to explore the unmet needs and challenges for rare disease and how best we collaborate with stakeholders for the benefit of the whole community.  We were delighted that several members of the WCMR team were able to get involved in the lightening talks and panel discussions that took place at the event and that everyone could share their experience and knowledge to help strengthen our rare disease expertise in Newcastle.

Twitter Takeover with Genetic Alliance UK

We were delighted to be given the opportunity to take over the Genetic Alliance UK Twitter account for an hour as part of Rare Disease Day and share our key messages on mitochondrial disease and the importance of mitochondrial research with their followers.  The ‘twitter takeover’ saw us post 1 tweet every 5 minutes on @GeneticAll_UK over the hour, which was intense but also a fantastic experience!  For anyone who missed it, you can still head over to the Genetic Alliance UK Twitter feed to find out more.

Westminster Hall Debate on Rare Disease

We would like to share our immense gratitude with Liz Twist MP who has gone above and beyond to help increase the profile of mitochondrial disease and our mitochondrial research in her role as Chair of the APPG for Rare, Genetic & Undiagnosed Conditions. This included Liz sharing key facts about the condition with MPs in a recent Westminster Hall Debate on patients with rare diseases that you can watch here.

The WCMR team are all incredibly grateful to Liz for her passion and commitment to support the rare disease community, not just on Rare Disease Day but throughout the year. She is also a true ambassador for the north-east of England and we look forward to continue working with both Liz and her team to ensure investment in the mitochondrial research that provides hope for a cure.

Press Coverage for Rare Disease Day

The WCMR team would also like to express their sincere thanks to the parliamentarians who shared articles about mitochondrial disease and the research we do within the WCMR at Newcastle University in the local press as part of Rare Disease Day. This included articles by both Liz Twist MP and Sharon Hodgson MP that can be viewed by clicking on the links below. We are so grateful to them both for their support and help in raising awareness of mitochondrial disease for the benefit of the whole community.

Rare Disease Day by Liz Twist MP, featured in The Journal (2nd March 2023).

Rare Disease Day by Sharon Hodgson MP, featured in The Sunderland Echo (2nd March 2023).