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Staff Profile

Victoria Hedley

Rare Disease Policy Manager

  • Telephone: +44 (0)191 241 8624 (Direct)
  • Personal Website: /rare-diseases/
  • Address: John Walton Muscular Dystrophy Research Centre
    NUTCRI
    Â鶹´«Ã½
    International Centre for Life
    Â鶹´«Ã½ upon Tyne
    NE1 3BZ
    United Kingdom
Background

I am a Rare Disease Policy Manager at Â鶹´«Ã½ and have a broad role dealing with many health and research-related topics under the banner of 'rare diseases'. I have been based in the John Walton Muscular Dystrophy Research Centre since 2012, working on projects and initiatives relevant to any and all rare diseases (by looking at what unites this heterogeneous group of 6-8000 conditions). I am a co-lead and founder of the NUCoRE for Rare Diseases.   

 

I played a leading role in the European-funded initiative Rare 2030, which developed on all aspects of rare disease. We are now using these outputs to stimulate a new policy framework for rare diseases across Europe and beyond, partially by coordinating a European Stakeholder Network for Rare Disease. I am a partner in the European Joint Programme for Rare Disease and am working with Rare Diseases International to develop a conceptual model for a WHO Global Network for Rare Disease.

For the past 6 years I led the resource on the ‘State of the Art of Rare Diseases Activities in Europe’.

As Thematic Coordinator and later Policy Manager for the European Joint Action for Rare Diseases, RD-Action (2015-2018), I was responsible for setting the strategic goals for the Policy & Integration work-stream, and delivering workshops, reports and recommendations across a broad range of topics. Having previously supported (and led, in the final year)  the project-management of the EUCERD Joint Action (2012-2015), I contributed to the development of EUCERD (EU Committee of Experts on Rare Diseases) and CEGRD (Commission Expert Group on Rare Diseases) Recommendations around diverse topics such as Cross-Border Genetic Testing for Rare Diseases; 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 (ERNs).

As a major area of impact, I led the Joint Action support for the conceptualisation and implementation of the 24 ERNs and oversaw  –including over 8 key workshops- designed to assist the Networks in addressing shared challenges via common guidance and tools.

I am interested in data and eHealth issues, from a strategic perspective; for instance, between 2015 and 2018 I Chaired the RD-ACTION-led ‘Task-Force on Interoperable data-sharing in rare disease and e-Health communities’, to explore synergies between these fields. I am also a founding member of the  and am currently co-lead for the data-oriented activities of the  IMI2 venture, leading the activities around standardising terminology or paediatric clinical trials.


Research

My research involves all aspects of rare disease, focusing in particular on policies and strategies to improve diagnosis, research, treatment, care and social support. Topics include:

  • Establishing and improving RD Networks (European Reference Networks and more recently a Global Network under the WHO)
  • National Plans and Strategies for RD
  • Digital Health and data sharing
  • Registries and Data Platforms
  • Centres of Expertise and healthcare pathways
  • Cross-border genetic testing/Next Generation Sequencing
  • Integration of rare diseases into Social Policies and Specialised Social Services
  • Incorporation of research to healthcare sphere (for prevention, treatment and care)
  • Availability of therapies and regulatory issues for RD
Publications

  • Articles

    • Felisi M, Bonifazi F, Toma M, Pansieri P, Leary R, Hedley V, Cornet R, Reggiardo G, Landi A, D'Ercole A, Malik S, Nally S, Sen A, Palmeri A, Bonifazi D, Ceci A. . Data 2024, 9(4), 59.
    • Sen A, Hedley V, Degraeuwe E, Hirschfeld S, Cornet R, Walls R, Owen J, Robinson PN, Neilan EG, Liener T, Nisato G, Modi N, Woodworth S, Palmeri A, Gaentzsch R, Walsh M, Berkery T, Lee J, Persijn L, Baker K, An Haack K, Segovia Simon S, Jacobsen J, Reggiardo G, Kirwin M, Trueman J, Pansieri C, Bonifazi D, Nally S, Bonifazi F, Leary R, Straub V. . Data 2024, 9(4), 55.
    • Sen A, Hedley V, Owen J, Cornet R, Kalra D, Engel C, Palmeri A, Lee J, Roze J, Standing J, Warris A, Pansieri C, Leary R, Turner M, Straub V. . Journal of the Society for Clinical Data Management 2022, 2(3), 4.
    • Amadi C, Leary R, Palmeri A, Hedley V, Sen A, Siddiqui RQ, Kalra D, Straub V. . Applied Sciences 2022, 12(3), 1604.
    • Hedley V, Bottarelli V, Weinman A, Taruscio D. . Journal of Community Genetics 2021, 12, 207-216.
    • Wise J, Grebe de Barron A, Splendiani A, Balali-Mood B, Vasant D, Little E, Gaspare M, Harrow I, Smith I, Taubert J, van Bochove K, Romacker M, Walgemoed R, Jiminez R, Winnenburg R, Plasterer T, Gupta V, Hedley V. . Drug Discovery Today 2019, 24(4), 933-938.
    • Evangelista T, Hedley V, Atalaia A, Johnson M, Lynn S, Le Cam Y, Bushby K. . Orphanet Journal of Rare Diseases 2016, 11, 17.
    • Pohjola P, Hedley V, Bushby K, Kääriäinen H. . European Journal of Human Genetics 2016, 24(11), 1547-1552.

  • Book Chapters

    • Hedley V, Leary R, Sen A, Irvin A, Heslop E, Straub V. . In: Elke Gasthuys; Mark Turner; Lien Dossche; Karel Allegaert, ed. Essentials of Translational Pediatric Drug Development: From Past Needs to Future Opportunities. Amsterdam: Academic Press, 2024, pp.483-507.
    • Castro R, de Chalendar M, Vajda I, van Breukelen S, Courbier S, Hedley V, Montefusco M, Jøker Nielsen S, Dan D. . In: Handbook Integrated Care. Springer, 2021, pp.763-782.
    • 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. . 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.

  • Online Publication

    • Kole A, Hedley V. . Paris: Rare2030, 2021. Available at: .