RD-ACTION Thematic Coordinator
- Email: firstname.lastname@example.org
- Telephone: +44 (0)191 241 8624 (Direct)
- Fax: +44 (0)191 241 8770
- Personal Website: www.rd-action.eu
- Address: MRC Neuromuscular Centre at Newcastle
Institute of Genetic Medicine
International Centre for Life
Newcastle upon Tyne
I have worked in the field of rare disease healthcare and research policy for the last 6 years (since 2012 in the Institute of Genetic Medicine).
My current role is the Thematic Coordinator for the Joint Action for Rare Diseases, RD-ACTION (www.rd-action.eu).
Through this role and my former role in the management of the EUCERD Joint Action: Working for Rare Diseases, I have experience and understanding of a wide range of topics across the rare disease ‘spectrum’. As Thematic Coordinator I am responsible for facilitating the translation of the needs and priorities of the field into meaningful policies at the European level whilst maximising impact at the national/regional level. A major focus of this role is continuing to support the RD field in preparing for, and implementing, robust European Reference Networks; for instance, I led the RD-ACTION Matchmaking tool and am coordinating interactions with the group of future ERN Leaders. I am spearheading our interactions with eHealth communities (as a member of the RD-Action Task-Force on Interoperable data sharing in the framework of the operation of ERNs).
A key part of this role (and indeed the former role, in the EUCERD Joint Action) entails building and maintaining relationships with stakeholders from Competent National Authorities (e.g. Ministries of Health), academia, patient organisations and Industry, to ensure the specificities and unique needs of those living and working with rare diseases are addressed in expert policy guidance. Since 2013 I have supported National Rare Disease conferences and provided guidance to optimise national activities for rare diseases. I have organised and delivered workshops on the European level with a particular emphasis on cross-border healthcare, particularly on the topics of European Reference Networks (several events to date) and Cross-Border Genetic Testing for Rare Diseases.
RD-ACTION, like the EUCERD Joint Action before it, supports an expert committee composed of key stakeholders from the world of rare diseases - the Commission Expert Group on Rare Diseases'. This body plays and important role in advising the European Commission and the Member States on the sorts of policies and practices it should be proposing, pursuing and supporting, in order to meet the overall goal of improving the diagnosis, treatment and care of patients afflicted by any of the approximately 8000 individual rare diseases, regardless of where in the EU they happen to live.
I have responsibility for the coordination and delivery of policy outputs for the new European Commission Joint Action in the field of rare diseases (RD), ‘RD-Action’ as well as liaison (as appropriate) with the UK authorities (Department of Health, Public Health England and NHS England) with whom the Joint Action interacts. I maintain an overview of progress across the thematic priorities relevant for RD, develop policy and research documents, manage stakeholder expectations, and integrate a diverse range of health-related initiatives to ensure delivery of appropriate and timely recommendations, reports and Opinions to the European Commission Expert Group on Rare Diseases, which the project will support.
Research topics are as follows:
• European Reference Networks
• E-Health and data sharing
• Registries and Data Platforms
• Centres of Expertise and healthcare pathways
• Cross-border genetic testing/Next Generation Sequencing
• Incorporation of research to healthcare sphere (for prevention, treatment and care).
• Integration of rare diseases into Social Policies and Specialised Social Services
• Coordinated approaches to pricing and innovative mechanisms to improve access to rare disease therapies, including HTA.
• Methodology for assessing the Socio-economic Burden of Illness of rare disease
• Public Health Indicators
• Primary Prevention or rare congenital anomalies (in fact secondary and tertiary)
- Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks. Orphanet Journal of Rare Diseases 2016, 11, 17.
- Pohjola P, Hedley V, Bushby K, Kääriäinen H. Challenges raised by cross-border testing of rare diseases in the European union. European Journal of Human Genetics 2017, 24(11), 1547-1552.
- Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada De La Paz M, Lochmuller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Improved diagnosis and care for rare diseases through implementation of precision public health framework. In: Manuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft, ed. Rare Diseases Epidemiology: Update and Overview. New York: Springer, 2017, pp.55-94.