Programme

Jayne Hughes is the founder and driving force behind Amy and Friends RCN 1119746, a UK based charity dedicated to supporting children and families affected by Cockayne Syndrome and other DNA repair disorders.

Amy and Friends is inspired by Amy, Jayne’s daughter who courageously lived with the condition. Amy and Friends was formed in 2007 to provide desperately needed support, research and advocacy for families around the world navigating life with these rare, life-limiting conditions.

Jayne has built Amy and Friends into a globally recognised organisation. The charity provides a wide range of services – including family support, medical and scientific collaboration, annual family medical conferences and organises/accompanies families to a rare disease clinic that Jayne and a UK Genetic Consultant were instrumental in forming with the backing of NHS England.

In recognition of outstanding contributions to the community and to rare disease advocacy, Jayne was awarded the British Empire Medal in the King’s New Year’s Honours List 2024.

Dinesh Chawla is Centre Manager at the Manchester Rare Conditions Centre, which brings together expertise from across Greater Manchester to improve care, research, and education for people with rare conditions. He oversees daily operations and drives delivery of the Centre’s strategic goals. With a background in healthcare management, he is passionate about fostering collaboration across the rare disease community.

Hannah Stark leads the Operations team at the NIHR BioResource and is responsible for the coordination of recruitment across all NIHR BioResource programmes, including rare diseases.

The team support recruitment sites and BioResource Centres recruiting into the BioResource and answers questions from members of the public and volunteers. The team also supports academic and industry researchers in inviting BioResource volunteers to their studies and ensuring they run to time and target.

Libby Thomas is a Patient and Public Engagement Officer based at the University of Liverpool, supporting inclusive involvement across a range of health research projects. With a background in public health, her work focuses on engaging underrepresented communities, with particular attention to involving children and young people with rare kidney disease in the design and delivery of clinical research. 

Libby currently leads the development of a national advisory board for children with rare kidney disease, working in collaboration with Kidney Research UK, LifeArc, and social enterprise partners. Her broader interests include health inequalities, co-production, and embedding lived experience into research and policy.

Nick Meade leads the team at Genetic Alliance UK, working to improve the lives of individuals living with genetic, rare, and undiagnosed conditions. With 20 years of experience at the organisation, he is dedicated to ensuring that the voices of member organisations and the people they support remain central to all of the charity’s work.

Nick plays a key role in contributing to the implementation of the UK Rare Disease Framework and broader evidence-based advocacy. He works closely with the board of trustees to uphold transparent governance and drive the charity’s strategic direction. His focus includes improving access to therapies for rare conditions, advancing genomic medicine, and ensuring the continued successful delivery of the UK Rare Disease Framework through strategic campaigning and evidence-based influencing.

Kerry Leeson-Beevers is the Chief Executive of Alström Syndrome UK (ASUK). ASUK aims to provide personalised support, raise awareness, conduct pioneering research, and enable better treatments and monitoring through the AS multi-disciplinary clinics.

Alström Syndrome UK also manages the Breaking Down Barriers Project. This project brings together a network of over 70 organisations to develop supportive and inclusive services for people from diverse and marginalised communities.

Kerry has lived experience as her son is diagnosed with AS. She is a patient representative on the England Rare Diseases Framework Delivery Group and is co-applicant on various NIHR funded research studies.

Naomi has extensive experience working in clinical research and with the rare disease community. She spent many years working at Great Ormond Street Hospital as a clinical research nurse caring for patients and families including those living with ultra rare conditions. As Director, Patient Advocacy at Bionical Emas, Naomi’s role is fundamental to the company mission of bringing life changing medicines to patients around the world. Naomi works closely with patient advocacy groups to understand the unique needs and complexities of the patients they represent.  Naomi is passionate about amplifying the patient voice and ensuring it is always represented in our early access programs, promoting a positive patient journey, reducing burden and co creating with patient communities.  Naomi facilitates regular dynamic training and education for patient advocacy groups around early access programs in a compliant and ethical manner.

Coming soon!