Together for Rare Diseases (2021-2024)
I have been an active member of the Together for Rare Diseases Steering Group, representing EURORDIS in supporting ERN-Industry partnership...
Join4ATMP (2024-27)
An EU-funded initiative to accelerate and de-risk European ATMP development and ensure wide-spread access of ATMPs. I am EURORDIS Lead...
RARE IMPACT (2020-21)
Serving as Researcher Lead, I engaged with industry partners and patient communities to lead the research on the processes and...
Mental Health Partnership Network (2023-ongoing)
I am the Mental Health Lead at EURORDIS who is responsible for developing the call for evidence to advocate for...
EU Joint Action(s): under RD-Action (2015-18)
Whilst working for EURORDIS, I supported the implementation of the European Union Committee of Experts on Rare Diseases (EUCERD) recommendations...
European Reference Networks (2015-2024)
I have been the Healthcare Advisor (previous Director) at EURORDIS, supporting the development of ERNs from concept (catalogue of services)...
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
Rare disease healthcare pathways
Our healthcare pathways strike the balance of clinically meaningful information, data and evidence, whilst being flexible enough to cope with...
Network Development & Peer Learning
Connecting communities is at the heart of our work We believe that together we are stronger, sharing our knowledge, experience...
Evidence Informed Care & Medicine
We appraise clinical data and published literature, targeting the effective use of evidence to care, medicine and treatments with the...
Primary Bone Sarcoma
Surgery for primary malignant bone tumours such as osteosarcoma, Ewings sarcoma and chondrosarcoma. The aim of surgery to do the...
Neurofibromatosis
Neurofibromatosis Type 2 is a genetic condition that results in people having a predisposition to benign tumours of the nerves...
Severe Combined Immune Deficiency
Severe combined immunodeficiency, SCID, is a rare genetic disorder characterized by the disturbed development of functional T cells and B...
Lysosomal Storage Disorders
Pompe disease is an inherited glycogen storage disease that affects skeletal and cardiac muscle which has a wide spectrum of...
Cranio Facial Surgery
Craniofacial surgery is the name given to the multi-disciplinary team approach of Neuro-surgeons, Plastic Surgeons and maxilo-facial surgeons who operate...