Eurordis - Rare Disease Europe

Victoria has been an active participant in the generation of rare disease policies and policy-related outputs since 2012. She currently leads the knowledge-based activities of the Rare 2030 foresight project and previously led the policy side of RD-ACTION, the EU Joint Action for Rare Diseases. She has experience and understanding of a wide range of topics under the Rare Disease umbrella and belonged to the coordination team for the EUCERD Joint Action for RD. In these capacities she contributed to the development of EU-level Recommendations around topics such as CrossBorder Genetic Testing; the Incorporation of Rare Diseases into Social Services and Policies; Patient Registration and data collection; National Plans and Strategies; and, most prominently, European Reference Networks. She led RDACTION support for the conceptualisation and implementation of European Reference Networks (ERNs), and designed key workshops to assist the ERNs in addressing shared policy challenges. For the past 5 years she has led the resource on the ‘State of the Art of Rare Diseases Activities in Europe’. On the research side, Victoria co-leads the data-related activities on conect4children and is a seed member of the GO-FAIR Implementation Network for Rare Diseases. She is now colead of the new Newcastle Centre for Rare Diseases, which she brought to fruition in 2020, and which is now consolidating the broad range of disease-focused and methodological expertise in the Newcastle region, to optimise patient-centred research and innovation. Reference Networks (ERNs), and designed key workshops to assist the ERNs in addressing shared policy challenges. For the past 5 years she has led the resource on the ‘State of the Art of Rare Diseases Activities in Europe’. On the research side, Victoria co-leads the data-related activities on conect4children and is a seed member of the GO-FAIR Implementation Network for Rare Diseases. She is now colead of the new Newcastle Centre for Rare Diseases, which she brought to fruition in 2020, and which is now consolidating the broad range of disease-focused and methodological expertise in the Newcastle region, to optimise patient-centred research and innovation.

The EURORDIS Young Patient Advocate Award 2020 is awarded to Jana Popova for her exceptional advocacy work for people living with a rare disease. A PhD student in Media and Digital Communications and freelance journalist, she uses her skills and expertise in media and communications to raise awareness of the issues faced by the SMA (Spinal Muscular Atrophy) community, as well as rare diseases as a whole. She is the author of numerous articles about social policies, health systems, education, as well as different aspects of the daily life of people with neuromuscular disorders in Bulgarian as well as in English. She believes that people with chronic diseases – whether neuromuscular disorders, rare diseases, or other conditions – should raise their voices together to advocate for a better quality of life. She first became involved in patient advocacy aged 15 as a volunteer for the Bulgarian Association for Neuromuscular Diseases, for whom she still volunteers now, 13 years later. Since 2017 she has been a member of the European Alliance of Neuromuscular Disorders Associations (EAMDA), where Jana has been instrumental in developing cooperation between different European patients’ organisations for neuromuscular disorders. Since 2018 Jana has also been involved in the EPF (European Patients’ Forum) Youth Group, advocating for young patients’ rights and needs on the highest level. In addition, Jana has participated at the EURORDIS Summer and Winter Schools, and the EPF’s Summer University for Young Patient Advocates as a trainer, helping to educate and empower other patient advocates to make their voices heard. This award recognises Jana’s boundless commitment to amplifying the voice of patients with neuromuscular diseases and other young patients, showing that together, patient advocacy can have a huge impact.

The EURORDIS Company Award for Health Technology recognises companies developing technologies with significant positive impact on the daily lives of people living with a rare disease. TOBEA (Thinking Outside the Box Engineering Applications) is an engineering start-up firm based in Athens and established in 2012. In 2020 this Award is given to TOBEA’s unique SEATRAC device which facilitates access to outdoor water activities for people with limited mobility. Where the SEATRAC is available, a wheelchair user can enjoy a swim in the sea unassisted, using the specially designed chair on tracks and a waterproof remote control. In 2019 the team installed SEATRACs on beaches in Greece, Turkey, Cyprus and Southern Italy. An individual’s mobility can often be limited by living with a rare disease, and this innovative technological solution promotes quality of life, well-being and the equal right to health for people with limited mobility. In addition, the solar powered SEATRAC is an environmentally conscious innovation, which is sensitive to its carbon footprint and leaves the landscape intact if removed.

The EURORDIS Company Award for Innovation commends companies undertaking ground-breaking activities to advance rare disease research and treatment development. With this in mind, EURORDIS recognises Healx’s promising alternative model for drug discovery which integrates Artificial Intelligence (AI) and machine learning to identify treatments and possible cures for rare diseases. The Company’s Healnet platform integrates AI, pharmacological expertise and patient perspectives to identify potential therapies for rare diseases without a known treatment. The model aims to inverse traditional pharmaceutical drug discovery processes. Instead of identifying a disease area then developing a drug to match that target, Healx matches treatments to the patient’s gene expression, and works with other stakeholders to repurpose and modify existing treatments to better cater to patients’ needs. Amongst the Company’s promising projects engaging the patient community are collaborations with FRAXA, the Fragile-X Syndrome patient group and the Barth Syndrome Foundation to employ Healx’s technology and share expertise to accelerate therapy discovery for these two rare diseases. The award places a spotlight on Healx’s significant investment in multistakeholder collaborations to develop potentially lifechanging medicines for people living with a rare disease, as well as the Company’s drive to promote alternative frameworks to address rare diseases.

The EURORDIS Visual & Audio Media Award recognises Tomasz Śliwiński & Magda Hueckel’s important and impactful documentary film, ‘Our Curse’, telling the story of the first six months of their son Leo’s life with Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s Syndrome. CCHS is a rare congenital disease of the central nervous system and patients do not have a breathing reflex, meaning they are artificially ventilated at least during the night. The documentary has had a huge impact in raising awareness and improving the situation for patients like Leo living with CCHS. As a result of the discussion raised by this powerful and emotional film, donations have increased across the world for research into CCHS, new medical devices have already come to market, and the families of patients like Leo feel much less alone in their experiences. The CCHS Foundation has been established in the USA, and Tomasz and Magda are its Regional Coordinators in Poland, with the principal aim of raising money to support CCHS research. Additionally, together with Anna Palusińska, Tomasz and Magda have started the Polish CCHS Foundation “Lift the Curse”. By documenting their personal experiences as parents of a child with a life-threatening rare disease, Tomasz and Magda have provided an authentic and genuine insight into what life can entail for rare disease patients and their families. ‘Our Curse’ has deservedly received global critical acclaim, winning a long list of film festival awards, and being nominated for Best Documentary (Short Subject) at the 87th Academy Awards. This Black Pearl Award recognises Tomasz and Magda’s powerful talent and ability to highlight the needs of people living with a rare disease to a wider audience, and for that we would like to thank them on behalf of our rare disease community.

Dr. Lisa Sanders is an American physician, medical author and journalist, and assistant professor of internal medicine and education at Yale School of Medicine. In 2002, she began writing a column for the New York Times magazine called ‘Diagnosis’, covering complex and rare medical mystery cases, which has also inspired a Netflix documentary series released in 2019. Her prestigious and popular column has brought the needs and experiences of people living with a rare disease to the attention of a much wider global audience. The cases tackled in ‘Diagnosis’ give an invaluable platform to the rare disease community and share powerful stories with the broader public, who might not otherwise encounter the world of people living with a rare disease and their struggles to reach a diagnosis. The stories told in ‘Diagnosis’ demonstrate the immense power of collaboration across the global rare disease community, to share research, expertise and therapies to help patients across borders. Such collaboration often helps patients to realise they are not alone, however rare their condition may be. Dr. Sanders’ column has made an important contribution to raising awareness about rare diseases across the USA and beyond, and we are delighted to honour her work with this Black Pearl Award.

This year, in 2020, we are delighted to introduce a new Black Pearl Award, which recognises the need in the decade to come for a 360°, holistic and innovative approach to patient care, based on each person’s individual experience of living with a rare disease. The inaugural Holistic Care Award recognises the outstanding, holistic facilities of the EB Haus, a project of DEBRA Austria, and master-minded by founder and CEO Dr. Rainer Riedl. It took several years, tens of millions of euros in donations, and sincere personal dedication to reach the EB House’s opening in Salzburg in 2005. The EB House is the world’s first special clinic for “butterfly children”, who live with Epidermolysis Bullosa. The centre’s four interdisciplinary units demonstrate the benefits of combining patientfacing support with clinical training and high-quality research under one roof. Thanks to its prestige and reputation as a worldleading facility, the EB House has welcomed butterfly children not only from Austria, but all over Europe, and has also inspired the creation of similar centres which combine research with clinical care and training facilities in other countries. The EB House’s recognition as the first Austrian Centre of Expertise for rare diseases, and as a member of the European Reference Network (ERN) for rare skin diseases, are a testament to the success of this world-class centre. The EB House Austria is an excellent example of a centre operating with a holistic approach to improving the lives of patients living with a rare disease; from treating patients with the latest therapies, to educating clinicians and researching potential treatments for the years to come. The EB Haus is a shining example of the benefits of holistic care and we therefore believe it to be a truly deserving recipient of this first ever EURORDIS Holistic Care Award, particularly in the year of the EB Haus’ 15th anniversary, and DEBRA Austria’s 25th year.

The EURORDIS Members Award recognises ALAN’s outstanding work in providing empowering information and support to patients living with a rare disease and their families, thereby giving patients greater autonomy and significantly improving their quality of life. ALAN’s specialised team provide socio-therapeutic support and psychological counselling throughout the different stages of a patient’s experience living with a rare disease, all free of charge. ALAN’s support helps patients living with a rare disease to feel empowered and to thrive, (re)constructing and redirecting their lives after diagnosis. The patient organisation ALAN was founded in 1998 initially to support and inform Luxembourg-based individuals affected by neuromuscular diseases. In 2005, they expanded activities to serve people living with other rare diseases. In addition to providing socio-therapeutic support for patients, ALAN organises numerous public outreach activities to raise awareness for rare diseases among the general public, politicians, authorities and institutions. They are actively involved in implementing the National Plan for Rare Diseases, developed under their expertise in 2018 in collaboration with the Ministry of Health and other stakeholders. The aim of the plan is to ensure equal access to diagnostics, therapy, care and research for all people living with a rare disease. ALAN Maladies Rares Luxembourg is an exemplary EURORDIS Member for the holistic approach used to support patients in so many aspects of their lives – from access to healthcare information to school, work and family life and social inclusion. ALAN is a shining example among EURORDIS Members and a truly deserving recipient of this award.

The EURORDIS Company Award for Patient Engagement 2020 recognises Boehringer Ingelheim’s longstanding commitment to collaborative and comprehensive engagement with rare disease patients and patient organisations, including the scleroderma, idiopathic pulmonary fibrosis and cystic fibrosis communities. In the area of Cystic Fibrosis, Boehringer Ingelheim collaborates with EURORDIS and the patient community to help structure early and meaningful patient input in clinical research. Over the last two years the company has participated in a Cystic Fibrosis Community Advisory Board, which serves as a platform for transparent and effective collaboration with the patient community to promote dialogue, exchange information and foster partnerships. In addition, we note the Company’s holistic approach to patient support which addresses patients’ medical needs as well as barriers to access, and the social context of people living with a rare disease. Boehringer Ingelheim’s ‘More Than Scleroderma’ initiative is indicative of this focus. Launched in 2017, the campaign and accompanying website aim to provide patients, caregivers and healthcare professionals with medically accurate information about living with this rare disease and available social support networks. Since 2004 the Company has been part of the EURORDIS Round Table of Companies demonstrating an openness to exchange on critical issues impacting rare disease patients. In numerous aspects of their work, Boehringer Ingelheim prioritise patient engagement to develop therapies to best serve the community’s needs, and for this they are the deserving recipient of the Black Pearl Company Award for Patient Engagement 2020.

Claudia Crocione is a long-standing patient advocate and Managing Director of HHT Europe. The EURORDIS Volunteer Award 2020 recognises Claudia Crocione’s exceptional work as a patient advocate for the rare disease community, as well as her outstanding contributions to EURORDIS on a volunteer basis for many years. The EURORDIS Volunteer Award recognises Claudia’s personal commitment to the HHT (Hereditary Haemorrhagic Telangiectasia) community, both in Italy and across Europe. She is a very active advocate in her work representing HHT patients and families in the VASCERN European Patient Advocacy Group (ePAG), the Council of European Rare Disease Federations, and is currently helping to establish the HHT CAB (Community Advisory Board). In addition, we would like to recognise her voluntary contributions to numerous other EURORDIS activities such as the EURORDIS Membership Meeting Budapest and our webinar series. Claudia’s commitment, resilience and motivation to make a positive difference to the lives of people living with a rare disease is reflected in all of her activities, and she is a truly deserving recipient of the Volunteer Award 2020.

The EURORDIS Policy Maker Award recognises Dr. Vytenis Andriukaitis’ outstanding work and support of the rare disease community in his role as European Commissioner for Health and Food Safety 2014-2019. During his tenure, Dr. Andriukaitis supported significant developments to European policy, which have had a positive impact on outcomes for people living with rare diseases. He was a key driving force in the development and the launch of the European Reference Networks in 2017, which promise huge transformative potential for healthcare delivery in the years to come. EURORDIS and the wider rare disease community also greatly appreciated his support for the proposal for European Cooperation on Health Technology Assessment (HTA). This very important European legislation will ensure a more transparent system for therapies, thereby reducing inequalities through an evidence-based decision-making process. Above all, throughout Dr. Andriukaitis’ time as Commissioner for Health, he was a tenacious and courageous proponent of the added value of European action in public health. Dr. Andriukaitis is a strong defender of meaningful patient engagement in all areas that have an impact on their lives, from healthcare to research, and a passionate supporter of the rare disease community. The former Commissioner is a truly deserving recipient of this award and we are delighted to celebrate these achievements as his mandate comes to an end.

The EURORDIS European Rare Disease Leadership Award 2020 recognises the exemplary leadership and dedication Dr. Daria Julkowska has shown to the rare disease community and the positive impact her work has had on rare disease research and partnerships, both in Europe and beyond. We would like to acknowledge Daria’s outstanding commitment to various rare disease programmes; E-Rare, the ERA-Net for research programmes on rare diseases, where she became coordinator of the programme; IRDiRC as Chair of the Funders Constituent Committee and then Coordinator of the Scientfic Secretariat; and most notably as coordinator of the European Joint Programme on Rare Diseases (EJP), which brings together research and funding stakeholders from across Europe. We would like to acknowledge Dr. Julkowska’s determination in establishing the EJP and overcoming numerous challenges in bringing this large collaborative consortium together. It is thanks to her leadership that this ambitious yet game-changing Rare Disease research programme was successfully evaluated and funded, bringing together over 130 institutions in over 30 countries. The importance of the EJP in the field of rare disease research cannot be overstated, and we are delighted to celebrate Daria’s commitment to rare disease leadership tonight.