Westminster Health Forum

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Priorities for rare disease diagnosis, care and treatment in England

England Rare Diseases Action Plan 2024 | newborn screening | regulation & licensing | skills & training | R&I | genomic medicines | Innovative Medicines Fund

Morning, Tuesday, 16th July 2024


This conference will discuss next steps for diagnosis, treatment and care of rare diseases in England.

Stakeholders and policymakers will assess key issues for improving health outcomes for patients with rare diseases, as well as priorities for clinical research and access to innovative treatments.

Delegates will discuss strategic direction for rare disease policy in the new parliament, following the 2024 England Rare Diseases Action Plan for delivering the wider UK Rare Diseases Framework.

As well as looking at ambitions in the framework, delegates will discuss the way forward for issues being raised as a focus by stakeholders and policymakers including:

  • equity in access to specialised care that is close to home for patients, tackling geographical variation, and supporting patients without a diagnosis or genetic condition
  • improving the delivery of clinical research and communication around genomics within the workforce

Looking at next steps for earlier detection and diagnosis of rare diseases, delegates will assess strategies for reducing waiting times for genetic testing, developing materials and training for the workforce to understand genomic processes and results, and more efficient ways of utilising data.

Those attending will also discuss the newborn screening programme, including the scope of conditions that are covered, as well as practicalities for rolling out whole genome sequencing for babies as part of future iterations of the programme. They will also consider how to address challenges in the transition between child and adult services following the recently updated NICE quality standard, as well as developing innovative treatments for children.

The delivery of care for rare diseases will be examined, including strategies for monitoring progress in highly specialised care across the country, developing best practice in holistic care for patients, and next steps for fair access to mental healthcare across types of rare conditions.

Further sessions include discussion on progress of the Innovative Medicines Fund in patient access to innovative treatments for rare diseases and the engagement of pharmaceutical companies with the scheme so far. Delegates will discuss the role of the Rare Therapies Launch Pad in piloting a pathway to support future development and regulation, as well as funding and considerations on improving models and delivery of clinical trials for rare conditions.

We are pleased to be able to include keynote sessions with: Dr Graham Shortland, Vice-Chair, UK National Screening Committee; Professor Timothy Barrett, Director, Centre for Rare Disease Studies, University of Birmingham; Dr Lucy McKay, CEO, Medics4RareDiseases; and Ana Lisa Tavares, Clinical Lead, Rare Disease Research, Genomics England.

The conference will be an opportunity for stakeholders to consider the issues alongside key policy officials who are due to attend from DHSC; MHRA; OLS; UK NSC; and DBT.

The proceedings of the conference will be circulated more widely, to Parliamentarians, ministerial offices, and government and regulatory officials with an interest in the issues being discussed. All delegates will also receive a video recording of the conference.

Keynote Speakers

Ana Lisa Tavares

Clinical Lead, Rare Disease Research, Genomics England

Dr Lucy McKay

CEO, Medics4RareDiseases

Dr Graham Shortland

Vice Chair, UK National Screening Committee

Professor Timothy Barrett

Director, Centre for Rare Disease Studies, University of Birmingham

Keynote Speakers

Dr Lincoln Tsang

Partner, Ropes and Gray

Dr Graham Shortland

Vice Chair, UK National Screening Committee

Dr Lucy McKay

CEO, Medics4RareDiseases

Ana Lisa Tavares

Clinical Lead, Rare Disease Research, Genomics England

Professor Timothy Barrett

Director, Centre for Rare Disease Studies, University of Birmingham


Baroness Neville-Jones

Dr Victoria Lund

Programme Manager, Respiratory, Inflammation and Rare Diseases, Medical Research Council


Charlotte Chapman-Hart

Rare Disease Patient Representative and Business Transformation Officer, North West Anglia NHS Foundation Trust

Dr Paul Clift

Clinical Lead, Centre for Rare Diseases, Queen Elizabeth Hospital Birmingham

Deborah Richards

UK General Manager, Alexion

Professor Derralynn Hughes

Clinical Director, Research and Innovation, Royal Free London NHS Foundation Trust

Dr Lucy Allen

Director, Research and Healthcare Data, Cystic Fibrosis Trust

Professor Paramala Santosh

Professor, Developmental Neuropsychiatry and Psychopharmacology, King's College London

Catriona Crombie

Head, Rare Disease, LifeArc

Professor Simon Johnson

Professor, Respiratory Medicine, University of Nottingham

Adam Galloway

Clinical Academic and Children’s Physiotherapist, Leeds Children’s Hospital