Staff Profile

I am a Rare Disease Policy Manager at Newcastle University 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 policy recommendations 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 many RD-ACTION policy-related activities –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 GO-FAIR Implementation Network for Rare Diseases and am currently co-lead for the data-oriented activities of the Conect4Children IMI2 venture, leading the activities around standardising terminology or paediatric clinical trials.