Eurordis - Rare Disease Europe

Roseline Favresse – Research Policy and Initiatives Director, EURORDIS-Rare Diseases Europe

Nick Sireau, PhD, is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU, a rare genetic disease affecting both his children. The AKU Society and Nick are the winners of the 2021 Members Award by EURORDIS (the European Organisation of Rare Diseases) because of their work on successfully developing a new treatment for AKU. Nick is co-founder and Chair of Beacon, an organisation that helps all rare disease patient groups. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf 2013) and of the ‘Patient Group Handbook: A Practical Guide for Research and Drug Development’ (Beacon 2016). Nick is co-founder and Chair of Orchard OCD, a medical charity that funds research into obsessive-compulsive disorder (OCD), a common yet debilitating mental health condition.

Concha Mayo – Mental Health & Wellbeing Engagement Manager

Dan’s eldest daughter Amelie was diagnosed with Tay-Sachs in 2011 at 15 months of age and upon finding that there was no dedicated advocacy group providing support for families affected by this disease in the UK he set set-up the Cure & Action for Tay-Sachs (CATS) Foundation with his wife Patricia. Since the group was launched, they have been able to grow The CATS Foundation so that it now offers a variety of services to its family members and has been actively involved in the research investigating therapeutic treatments for Tay-Sachs and Sandhoff disease. In addition to this, Dan is the one of the founding members and Chairman of the European Tay-Sachs and Sandhoff Charity Consortium (ETSCC) which brings together all the European patient groups leading the fight against the diseases and is part of the team establishing the GGGA, a global organisation bringing together all the advocacy groups for GM1 and GM2.

Sophie

After an unexpected disrupted career in finance and banking within a large international bank due to a PitNET (Pituitary Neuro Endocrine Tumour) I became involved in the world of patient advocacy for the Dutch Pituitary Foundation. First I explored the national context of patient representation and I quickly realised that rare diseases, by their very nature, require not only national cooperation, but certainly international cooperation. My patient advocacy journey continued with the Eurordis Summer, Winter and Leadership School, European Eupati Course. And nowadays I’m involved in Endo-ERN, Brain Foundation Netherlands, I work together with the National HTA and regulatory authorities, co-chair of de PAG Board of the European Endocrine Society, member of the Scientific Evaluation committee of EJP-RD. Also I’m involved in a number of research projects in both the paediatric and adult field of Endocrinology and finally I conduct research of the unmet social and medical needs of patients together with HCPs and PhD Candidates.