Genomics Champion: Sophie Harding

Sophie Harding Advanced Oncology Pharmacist Velindre Cancer Centre, Cardiff. I have practised as an Oncology Pharmacist at Velindre Cancer Centre (VCC) for the past 13 years. Within my multi-faceted pharmacist role, I have worked as a Non-medical Prescriber within consultant teams for both breast and gynaecology oncology and have developed many governance documents for the […]

Confronting Exceptional Disease: The Lessons and the Future

One year of mass trauma and 100,000 deaths have presented the wider public with the experience of the frailty of health and social care, access to treatment, and economic, education and social exclusion not to mention anxiety and fear in the face of an unfamiliar malevolent illness. Yet all of these experiences and frustrations have […]

Virtual Rare Disease Day 2021 UK-wide Parliamentary Event

 About this Event When: Wednesday 24 February 10.00 – 12.00 via ZoomSign up here: Plans for this year’s Rare Disease Day activities are well underway albeit a little different to usual. Our annual event will be a joint parliamentary event with the other nations of the UK and will focus on the implementation of the new […]

Genomics Champion: Bryony Coupe

Dr. Bryony CoupeJunior DoctorMorriston Hospital I’m a junior doctor currently working in general medicine at Morriston Hospital. As an academic core medical trainee with some understanding of the developing importance of genomics, in 2018 I was one of the first group of students to undertake the MSc in Genomic Medicine at Swansea University. I am […]

Genomics Champion: Rachel Thomas

Rachel ThomasSenior Biomedical ScientistWrexham Maelor Hospital My name is Rachel Thomas and I am a Senior Biomedical Scientist working in Wrexham Maelor Hospital within the PHW Microbiology laboratory. My role involves the oversight of the bacteriology laboratory in Wrexham, processing key samples such as blood cultures and sterile fluids for microscopy, culture and the identification […]

Virtual Public Genomics Café

Are you affected by a rare or genetic condition? Are you a member of the public interested in finding out more about genomics and health?  About this Event 14th January 2021, 11am to 12.30pm Join us for a Virtual Genomics Café! This initiative is being run by Wales Gene Park in collaboration with Genomics Partnership […]

Rapid NGS Diagnostic Workshop

This conference will bring together experts in rapid NGS to share best practice & their experiences of setting up a clinical service .  About this Event 4th – 5th February 2012, 9.30am to 12.30pm The role of Next Generation Sequencing (NGS) in clinical diagnostics of patients with rare genetic diseases over the past decade has […]

Genomics Champion: Saira Khawaja

I am an oncoplastic breast surgeon working in Prince Philip Hospital, Llanelli.  My clinical workload is operating both on symptomatic and screen detected breast cancers.  I also perform reconstructive procedures in both an immediate and delayed setting.  I am the MDT lead for the breast services in the Hywel Dda University Health Board.  At our […]

Virtual Annual Rare Disease Patient Network meeting 2020

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Join Wales Gene Park for its sixth annual Rare Disease Patient Network meeting – this year’s event will take place exclusively online. Register free. Date And TimeThu, December 10, 2020 10:00 AM – 2:30 PM GMT About this Event We look forward to welcoming you to our 6th annual meeting, bringing members of the Rare […]

Familial Paraganglioma Syndromes & Clinical Management Virtual Study Day


Join us for talks from experts around the UK and workshops to learn, share experiences & explore how service provision can be improved. About this EventFamilial paraganglioma syndromes are complex disorders and more common than previously thought. Our understanding of these disorders has grown significantly over the last 20 years; however, diagnosis, treatment and management […]