Morning, Tuesday, 16th July 2024
Online
This conference will examine next steps for diagnosis, care and treatment of rare diseases in England.
It is bringing together stakeholders and policymakers to discuss measures outlined in the England Rare Diseases Action Plan 2024, and to assess progress of the wider UK Rare Diseases Framework so far, which aims to:
- help patients get a final diagnosis faster and enhance coordination of care
- increase awareness of rare diseases among healthcare professionals
- improve access to specialist care, treatments and drugs
Sessions in the agenda focus on:
- priorities: improving the delivery of care for patients with rare diseases - supporting research and innovation
- early detection and diagnosis: progress and next steps for newborn screening - opportunities for widespread implementation of genetic screening
- coordinated care pathways:
- addressing challenges moving from paediatric care to adult services following the recently updated NICE quality standard
- priorities for pathways to meet the physical and mental health needs of rare disease patients
- skills and training:
- priorities for supporting the healthcare workforce to improve the treatment of rare diseases, including raising awareness and improving educational resources
- the role of the Pharmacy genomics workforce, education and training strategic framework in the implementation of genomic medicines and diagnostics in primary care
- Rare Therapies Launch Pad:
- next steps for the newly launched programme, which aims to improve access to treatment for children with rare diseases
- priorities for achieving the ambition of an improved pathway for diagnosis, design and manufacturing of individualised therapies and treatments
- clinical trials:
- discussing innovative approaches, regulation and licencing for rare disease therapies
- priorities for coordinating rare disease data
- next steps for collaboration between the NHS, industry and third sector to support research in diagnosis and personalised treatment, and the process of adoption in healthcare delivery
- access to treatment:
- assessing progress so far of the Innovative Medicines Fund in improving patients’ access to innovative medicines
- next steps for the development and adoption of gene therapies for the treatment of rare diseases
We are pleased to be able to include keynote sessions with: Dr Kath Bainbridge, Head of Rare Diseases and Emerging Therapies, Department of Health and Social Care; Ana Lisa Tavares, Clinical Lead for Rare Disease Research, Genomics England; and Dr Lucy McKay, CEO, Medics4RareDiseases.
