Eurordis - Rare Disease Europe

EURORDIS Black Pearl Awards 2023: Education and Collaboration as the cornerstone of change

Each year, the EURORDIS Black Pearl Awards honour and recognise exceptionally accomplished individuals and organisations that are building a better future for people living with a rare disease.

Both this year’s Leadership and Volunteer award winners have demonstrated dedication to improving the lives of people in the rare disease community. We at EURORDIS are fortunate enough to work with both of them in a variety of contexts and benefit from their extraordinary, lifelong commitment. They have proven that education and collaboration are effective tools for empowering patients and engineering change.

Meet Michela Onali – 2023 Volunteer Awardee

Patient experience, drive and commitment, combined with education and collaboration, can generate concrete opportunities for ultra-rare diseases.

Michela Onali

Michela lives with an ultra rare autosomal recessive disease called GNE Myopathy, which is characterised by early adult-onset, progressive muscle weakness. She has personal experience of the challenges people living with a rare disease face, such as a lack of knowledge, treatments and research, which are only compounded by the small number of patients living with conditions like her own. She began advocating for fellow GNE Myopathy patients in 2017 and has since expanded her focus to unexplored rare diseases with limited to no knowledge base and few possibilities for drug development.

Having participated in the EURORDIS Open Academy training, Michela became a patient representative with Gli Equilibristi HIBM, the only patient organisation in Europe voicing the needs of patients with GNE Myopathy, as well as getting involved with several European working groups. She first became involved in the European Reference Networks (ERNs) as an ePAG and member of the Euro-NMD Patient Advisory Board, and later joined MetabERN as Stakeholder Manager.

Speaking to EURORDIS, Michela talks of how unexpected and rapid the evolution in her advocacy was. What started out as a journey to raise awareness for GNE Myopathy quickly became a fight for interest in all rare diseases amongst the labs and academic researchers of Europe through patient leadership and rare disease transnational frameworks based on cross-border collaboration, public funding and open science. She stresses that it became a mission to use existing systems to show all stakeholders the impact patient partnerships and transnational collaboration can have for rare disease patients. 

We start advocating for our disease to go beyond our individual lived experience and to help others with the same disease but with different stories, challenges, paths to diagnosis, and treatment opportunities. I think this recognition of the diversity of experiences amongst patients needs to become a commitment for all stakeholders in rare diseases.

 Michela Onali

Michela’s passion for collaboration and education shines through in all avenues of her work. Whether it be through her dedication to ERNs, as a member of the EURORDIS Open Academy Faculty or any of the other number of working groups she is an indispensable member of, she constantly strives to empower fellow patient advocates to gain the skills and abilities necessary to positively affect public awareness, decision-making spaces, policies and research efforts.

When asked what being recognised by the 2023 EURORDIS Black Pearl Awards means to her, Michela says that it was very unexpected because many parts of advocacy, especially advocacy for ultra-rare diseases, often go unseen. Consequently, she says this award will give her a boost of positive energy to continue onward with even more motivation and dedication.

A rare disease brings the unexpected in all possible ways and among these lies the preciousness of this award.

Michela Onali

Meet Dr Holm Graessner – 2023 Leadership Awardee

Dr Holm Graessner has coordinated countless projects in the field of rare diseases at a national, European and international level.

He started his career as the project manager of EUROSCA, the first large European integrated research project on ataxias. Presently, he is the Managing Director of the First German Rare Disease Centre at the University Hospital Tübingen, Germany. 

Dr Graessner has been involved with ERNs since their inception as the initiator and coordinator of the European Reference Network for rare neurological diseases (ERN-RND). He has also been involved with the ERN structure on a higher level through the Solve-RD programme on “Solving the unsolved rare diseases” (2017-2023) and more recently has been the leader of the cross-border healthcare task force within the ERN coordinator group.

He is a man who wears many hats, all of which relate to supporting the rare disease community. When asked what he thinks has been the greatest achievement of his career to date, he recalls with great pride the launch of ERN-RND. He says that given the sheer size of the network and the novelty of the concept at the time, getting operational and being able to generate value for patients in such a small window was a huge success. As exemplified by this response, Dr Graessner’s work is proof of the concept that centring the patient voice is crucial for meaningful progress.

Effective collaboration in the field of rare diseases needs to be driven by rare disease patients. It always starts with listening to and involving patients and patient representatives.

Dr Holm Graessner

He recalls the mixed emotions he felt when he heard he was the winner of the 2023 Leadership Award. There was an element of surprise, he recalls, as he feels he still has a lot more to achieve in his career, but he mainly felt immense joy. He goes on to express his appreciation and gratitude for his team and all of the people who have collaborated with him over the years.

Attend the Black Pearl Awards

Both Michela Onali and Dr Holm Graessner are shining examples of the strength through unity embodied by our community. Through collaboration and education they have achieved exceptional things for people living with rare diseases and empowered others to do the same. 

Join us on Tuesday 21 February to celebrate them and the very best that our community has to offer. Registrations close on 6 February!

Don’t miss out, book your spot today!

Rhiannon Walls, Communications Junior Manager