Publications

Articles

Global Health for Rare Diseases Through Primary Care

Published: The Lancet Global Health, 2024 Link: https://www.thelancet.com/journals/langlo/article/PIIS2214-109X(24)00134-7/fulltext

Together4RD position statement on collaboration between European reference networks and industry

Published: Orphanet Journal Rare Diseases, 2023 Link: https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02853-9

The Importance of Psychological Support for Parents and Caregivers of Children with a Rare Disease at Diagnosis

Published: Rare Diseases Orphan Drugs Journal 2022 Link: https://www.oaepublish.com/articles/rdodj.2022.04

Enhancing the value of clinical networks for Rare Diseases

Published: Rare Diseases Orphan Drugs Journal, 2022 Link: https://www.oaepublish.com/articles/rdodj.2022.01  

Designing rare disease care pathways in the Republic of Ireland – a co-operative model

Published: Orphanet Journal Rare Diseases, 2022 Link: https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02309-6  

Patient Journey Experiences May Contribute to Improve Healthcare for Patients with Rare Endocrine Diseases

Published: Endocrine Connections 2022 Link: https://pmc.ncbi.nlm.nih.gov/articles/PMC9716367/

Our Greatest Untapped Resource – Our Patients

Published:  J Community Genet 2021 Link: https://link.springer.com/article/10.1007/s12687-021-00524-5  

Patient Journeys – improving care by patient involvement

Published in: European Journal of Human Genetics, 2020 Link: https://www.nature.com/articles/s41431-019-0555-6  

Initiatives


Infographics

Rare disease healthcare pathways

December 4th, 2017 Matt Bolz-Johnson Our healthcare pathways strike the balance of clinically meaningful information, data and evidence, whilst being flexible enough to cope with the uncertainties around management of complex and challenging conditions, and rigid enough to maximise the benefits for patients when standardisation is shown to transform clinical outcomes. We are leaders in patients-clinical partnerships to co-create healthcare…

Network Development & Peer Learning

December 4th, 2017 Matt Bolz-Johnson Connecting communities is at the heart of our work We believe that together we are stronger, sharing our knowledge, experience and passion to make a difference. We enjoy developing strong clinical & patient partnership, empowering patients to be equal partners in identifying research and healthcare priorities, setting clinical standards, healthcare pathways and reporting outcomes of…

Evidence Informed Care & Medicine

December 4th, 2017 Matt Bolz-Johnson We appraise clinical data and published literature, targeting the effective use of evidence to care, medicine and treatments with the optimal patient populations. Providing strategic advice on market access dossiers, protocol development and clinical guidelines.

Case Studies