Eurordis - Rare Disease Europe

The EURORDIS Members Award is awarded to the AKU Society for their 17 years of outstanding advocacy and research in the rare disease field. The AKU Society is a UK-based patient group that helps people with the ultra-rare genetic disease Alkaptonuria (AKU or Black Bone Disease) and that supports research into treatments and a cure. Patients suffer from severe joint deterioration, heart problems and a host of other issues as life progresses, leaving most of them very disabled. The AKU Society was founded in 2003 by AKU patient Bob Gregory and his doctor Professor Ranganath from the Royal Liverpool and Broadgreen University Hospitals. They were soon joined by Nick Sireau, whose two sons were born with the disease in 2000 and 2003. When he realised there was little to no support for AKU patients, Nick left his job to join the AKU Society and dedicate his life to one goal: cure his sons’ AKU.

Over the next 17 years with Nick’s unique leadership and drive, the AKU Society expanded upon the existing knowledge of AKU, sponsoring ground-breaking research and raising money for innovative patient support. The AKU Society became aware of a drug called nitisinone that was thought to stop the symptoms of the disease in their tracks. This culminated in 2012 with the National Health Service funding the first ever dedicated centre for AKU. The National Alkaptonuria Centre, based in Liverpool, not only offers yearly health checks and advice on how to live with AKU but also provides nitisinone off-label to all patients in England and Scotland. In 2012 the AKU Society was also awarded funding from the European Commission to found a consortium made up of hospitals, pharmaceutical companies and universities from across Europe, called DevelopAKUre. When the trials ended in 2019 they had shown that nitisinone was safe for use in treating AKU and reduced the harmful homogentisic acid by 99.8%, with a statistically positive impact on the clinical symptoms of the disease. In 2020, the European Commission formally licensed the drug for use in AKU across Europe. Thanks to the work of the AKU Society, no one born with AKU in Europe will ever face a future of pain and disability again.

Dr. Birutė Tumienė is a clinical geneticist by background. She graduated Faculty of Medicine in Vilnius University, where she also had her residency training in clinical genetics and PhD studies in rare genetic epilepsies; currently in her Alma Mater she give lectures on genetics and rare diseases. Besides, she is the Head of Unit for Genetic counselling in the Centre for Medical Genetics, and a Coordinator of International Affairs in the Coordination Center for Rare Diseases at Vilnius University Hospital Santaros Klinikos. Her international rare diseases-related activities are as intensive, with a track record of 14 years. Currently, she is a National Coordinator of Orphanet Lithuania, Operating Group member and Pillar 3 co-leader in European Joint Program on Rare Diseases and an Advisor to the WHO Special Envoy for European Region. Besides, she is Panel of Experts member in the foresight study Rare2030, Advisory Committee member in the European Rare dIsease research Coordination and support Action ERICA and Lithuanian Representative in the European Reference Network Board of Member States (ERN BoMS). In the ERN BoMS, she participates in the WG on Research and chairs a Working Group on ERN integration into national systems. Her activities also extend to professional/scientific organizations: she is a Board member of European Society of Human Genetics, one of the founders of Baltic Society of Inherited Metabolic Diseases. Through all these activities, Dr. Tumienė fosters manifold special interests in rare diseases, that combine perspectives of a professional, lecturer, policy-maker and an advocate of rare disease patients. She comes from a small newcomer EU13 country; hence, her particular concerns about equity, right to health and accessible, quality care across Europe, and beliefs in common European values and collaboration as a way to solve pan-European rare disease problems.

The EURORDIS Volunteer Award recognises the outstanding contributions and dedication that Ingunn Westerheim and Rebecca Tvedt Skarberg have shown in the rare disease community and to EURORDIS as volunteers. It acknowledges their commitment to rare diseases with the Osteogenesis Imperfecta Federation Europe (OIFE), several EURORDIS activities, the European Joint Programme, Rare Disease Day, Rare Disease Week, Bond ERN and many others. This award also recognises their work as EURORDIS volunteers and all their numerous achievements in the field. Their determination to travel all over the world to participate at meetings to raise awareness of rare diseases further proves their commitment to the cause.

The EURORDIS Scientific Award recognises Prof. Alain Hovnanian’s scientific excellence, dedication and collaborative approach to working with the rare disease patient community, as well as the positive impact he has made on rare disease research, particularly with Epidermolysis Bullosa and Pachyonychia Congenita. Alain Hovnanian is a physician-scientist board certified in Genetics and in Dermatology at Necker hospital in Paris. From 1993 to 2000, he joined the Wellcome Trust Centre for Human Genetics at the University of Oxford. He developed positional cloning approaches and successfully identified the genetic bases of several orphan skin diseases. Since 2009, he is professor of Genetics at Necker hospital for sick children in Paris. He runs a translational research activity focused on genetic skin diseases, has bi-weekly consultations and runs an INSERM research laboratory dedicated to the diagnosis and treatment of genetic skin diseases. His laboratory (“Genetic skin diseases: from mechanisms to treatments”) is part of the new Imagine Institute for genetic diseases in Paris. His laboratory aims at bringing innovative and targeted treatments to people suffering from severe genetic skin diseases. For years, Dr Hovnanian has worked to find a cure to RDEB, After identifying the gene responsible for the disease in 1993, he also identified the genetic basis of Darier disease, Hailey-Hailey disease, Netherton syndrome (NS) and a subset of Olmsted syndrome. These breakthroughs were essential to better understand the pathogenesis of these diseases and to develop specific treatments. Through the development of innovative medicinal products or repurposed medicine, Dr Hovnanian research has significantly contributed to bring new treatments for several orphan skin diseases.

Rachele was born in Milan, Italy, in 1994. Soon, she was diagnosed with Cystic Fibrosis, threatening the likelihood to reach adulthood. Today, if you google Rachele Somaschini you get plenty of results regarding her career in motorsports. She managed to become a National Rally Champion and she is known as a relentless advocate for Cystic Fibrosis, via her fundraising project #CorrerePerUnRespiro (Italian for “Racing for a breath”). The success of the project and her collaboration with different patient organisations has brought the needs of people living with Cystic Fibrosis to a wider audience. Thanks to #CorrerePerUnRespiro Rachele has raised over 200 000 euros for the Italian Cystic Fibrosis Research Foundation (Fondazione Ricerca Fibrosi Cistica). In addition to fundraising, the other main goal of the project is to increase awareness about the condition, by means of an unfiltered narrative that only a young person living with the disease is able to provide, through daily struggles with therapies, hospitals, limitations and precautions in her routine. Always backed up by her family, Rachele sticks to her treatment and therapies with impeccable responsibility, doing all she can to preserve her physical conditions and yet living life to the fullest. It was thanks to her father Luca that she learnt to love speed and racing. Successfully sharing her life with Cystic Fibrosis, from food choices to her travel bags full of medicament and tools for therapies, Rachele counts on thousands of loyal followers participating with her in the most important races of all: beat Cystic Fibrosis thanks to scientific research.

Noémie Sunnen was born in Luxembourg. She studied classical and lyrical canto at the Music Conservatory of Luxembourg and at the Conservatoire National Régional de Nancy. She obtained several prix supérieurs and other prizes. She has performed several operatic roles in Luxembourg, including Queen of the Night in the Magic Flute by W.A.Mozart. She has also appeared at the opera company in Trier, Germany. For several years now she has performed as a soprano soloist at a number of concerts and recitals together with various orchestras and choirs. Her repertoire ranges from baroque and classical music to the romantic music of the 19th century, as well as contemporary music of the twentieth and twenty-first centuries, including Lied, oratorios and opera. Noémie is suffering from motor-neurone disease ALS (Amyotrophic lateral sclerosis), but she still continues singing and has organised several concerts to raise awareness about the disease and gather funds for research.

Ana Ilić is a poet, a passionate advocate for social inclusion and a public activist. Ana is from Serbia and lives with Friedreich’s Ataxia, which she challenges everyday through words. She uses poetry as a portal for channelling her thoughts allowing her audience to join her in her journey as a person living with a rare disease. The unique and raw nature of her poetry has allowed greater and meaningful public understanding of the true realities experienced by the rare disease community. Ana graduated at the department of philosophy at the University of Nis in 2019 and also studied at the IT academy. She is the author of three notable poetry books and award-winning poems included in several poetry anthologies. Her poems have been published in professional magazines, translated into English and Polish, read on television and radio shows with the participation of famous Serbian public figures, published at about 30 literary events throughout Serbia, at the Belgrade Book Fair and at the largest book fair in the world, in Frankfurt. With the support of the diaspora, the first book of poems was promoted in Los Angeles and Toronto. Ana has participated in more than 100 interviews over the past few years and is a true representative of the Serbian community for rare diseases. Every day, Friedreich’s ataxia occupies a small part of her body, making it increasingly difficult for her to live normally. Although in a wheelchair, with serious cardiomyopathy, insulin life, skeletal deformities, she amazes us with her incredible energy, love for art and philosophy, constant desire for new knowledge and search to find answers to the most important life questions. Today, Ana works as a graphic designer in Nis, where she lives and creates, and is a student of the fifth generation of the Academy of Democracy, a prestigious CRTA, a civil society organization dedicated to the development of democratic culture and civic activism.

The EURORDIS Lifetime Achievement Award recognises the lifelong dedication Milan Macek has shown in addressing the needs of people living with a rare disease in the Czech Republic and in Europe. It acknowledges his commitment to rare diseases within EUCERD, Rare 2030, the European Society of Human Genetics, the CF Network, Orphanet, and more. Perhaps most notable is chief advisor of the Czech EU Presidency under which the EU Council recommendation on an action in the field of rare diseases was adopted in June 2009 – a soft legislation that has served as the basis for the tremendous progress in the field over the last decades.
This award also recognises his current engagement in the Rare 2030 Research Advisory Board and his key role in leading progress for the Rare Disease Community in the Czech Republic, particularly his efforts to raise awareness on the importance of keeping rare diseases a European public health priority with colleagues in the new Czech EU Council Presidency team. Milan Macek’s lasting support to EURORDIS activities, notably the ECRDs, is highly appreciated.

The EURORDIS Company Award for Patient Engagement recognises Takeda’s commitment to collaborative and constructive engagement with the rare disease patient community. EURORDIS particularly appreciates the Company’s long-standing and consistent support, helping to amplify rare disease patients’ voice across diseases and borders. A company striving to change the landscape of rare diseases, Takeda has been exploring innovative solutions to stimulate multi-disciplinary, patient-focused collaboration on critical issues affecting rare disease patients in Europe and beyond – from advocating for timely and accurate diagnosis and equitable patient access to rare disease therapies, through to encouraging multi-stakeholder dialogue on real-world evidence. Among the first companies signing the EURORDIS Charter for Clinical Trials in Rare Diseases in 2010, we also acknowledge Takeda’s approach to integrating patient insights into medicines’ development during their life-cycles. Takeda’s over eighty-year legacy in rare diseases is yet another reflection of the Company’s dedication to improving the lives of people with rare and complex conditions.

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. We commend Epihunter for creating an affordable and accessible digital solution that helps people with absence epilepsy to live more confident, fuller lives. We are encouraged by the strength of the technology to empower people to manage their condition better and have meaningful interactions with those around them. Epihunter’s innovative approach also contributes to raising much-needed awareness on a silent and invisible condition that is all too often misunderstood. It is testament to the potential of technology to help people living with rare and complex diseases overcome feelings of isolation. Through detecting, signaling and recording absence seizures, Epihunter’s device provides clinicians and researchers complete and accurate data, which is key for improving care and advancing knowledge of absence epilepsy.

The EURORDIS Company Award for Innovation recognises companies undertaking groundbreaking activities to advance rare disease research and treatment development. EURORDIS would like to acknowledge Orchard Therapeutics’ commitment to addressing areas of great unmet need for patients and the rare disease community through the development of one-time, potentially curative treatments. We commend the company for their leadership in harnessing the potential of hematopoietic stem cell gene therapy to change the course of severe inherited disorders. This Award particularly recognises Orchard Therapeutics for developing and bringing to Europe gene therapy for early onset metachromatic leukodystrophy (MLD), which addresses the urgent need of young patients and their families to treat a disease for which no approved therapeutic option previously existed. EURORDIS also appreciates Orchard Therapeutics’ continued readiness to facilitate and advocate for early diagnosis in underserved disease areas.

The EURORDIS Policy Maker Award recognises Kateřina Konečná’s dedication into making real differences in the rare disease community. In her role as a member of the European Parliament she has shown incredible leadership and excellence in championing the rare disease cause in Europe. As a Member of the European Parliament (Czech Republic), Kateřina Konečná is a member of the ENVI Committee where she focuses on access to healthcare and a number of public health issues often addressing inequalities across EU countries. In this context, she has been a champion for the rare disease community bringing awareness on patient engagement in HTA or on increased funding for ERNs. In the previous term, she was actively engaged in activities of the network of Parliamentary Advocates for Rare Diseases, and in the current term, she is a signatory of the Pledge4RD. She is also engaged in the European Parliament Working Group on innovation, access to medicines and poverty-related diseases, and the Interest Group on Patient Access to Healthcare, both of which she co-chairs. At national level, Ms. Konečná also works closely with the rare disease patient alliance in her home country and the national centre for rare diseases.