Together Caring for Rare Disease

Presented by Hannah Vaughan Jones

Coordinating Care

Rare conditions are often life long and complex, and as a result patients and their families need care from a range of different services – and it’s the coordination of that care that can make all the difference.  In this report for Genetic Alliance UK, we find out how well coordinated care has been life changing for a family of a patient with Alstrom syndrome.

Approved by Genetic Alliance UK

Partner films

Ensuring patients’ voices are heard

It is crucial that patients are treated as equal partners in the planning and delivery of clinical development. Bionical Emas are working with patient advocacy groups to ensure patients' voices are heard and the needs of each rare disease community are met.

Single discipline approach

Rare disease training can leave many doctors underprepared when faced with a patient who has an unfamiliar condition. Medscape Education Global is working with Medics4RareDiseases to advocate for a 'single discipline' approach to rare disease education.

Supporting sustainable access to treatments

Following many years of scientific research, it's expected that gene therapies may start to become a potential treatment option. Pfizer and other health experts discuss the ways in which our healthcare system could evolve to support sustainable access to treatments for people with rare diseases.

Treating causes and symptoms

Medical advances and innovation in the field of genetics is beginning to transform the lives of people living with rare diseases. PTC Therapeutics has been uncovering the genetic mechanisms behind rare conditions, to treat their cause and not just their symptoms.

The ‘I am number 17’ campaign

In the UK 1 in 17 of us will be affected by a rare condition over our lifetime. In partnership with rare disease patient organisations and individuals living with a rare disease, biopharmaceutical company Takeda are raising awareness of rare diseases with their campaign ‘I am number 17’ and discuss the need for HCP education and equity of care.

Development of orphan drugs

People living with rare diseases face huge challenges with difficulty in getting a diagnosis and the struggle to seek out an effective treatment. TMC Pharma Services works with companies to support the development of orphan drugs which can help transform lives.

Living with Myasthenia Gravis

Myasthenia Gravis is a debilitating, rare, neurological disorder and every patient must be treated in an individual way. UCB have funded a report to better understand the changes needed in rare disease health care services and to improve the lives of those living with the disease.

Homozygous Familial Hypercholesterolaemia

HoFH is a rare fatal heredity disease, and early identification and diagnosis can be vital. Pharmaceutical company Ultragenyx supports initiatives to aid that all-important early detection and is committed to supporting people living with HoFH and their doctors and caregivers.

Rare diseases - the global health challenge

We spoke with the University of Oxford to discuss how they have partnered their expertise with that of others, with the goal of driving cutting edge breakthroughs to meet the needs of those living with rare diseases.

Seven years too late

Volv Global have developed an AI technology that can help close this diagnostic gap, accelerating a patients access to treatment and improving the outcome of those living with a rare disease.

Louise Fish, Chief Executive, Genetic Alliance UK

Presenter Hannah Vaughan Jones speaks to Louise Fish about the symptoms of rare diseases that require support and expertise from a range of healthcare professionals, and the many benefits of effective co-ordination of care.

Approved by Genetic Alliance UK

Presented by

Hannah Vaughan Jones

Hannah is an international broadcaster, moderator, journalist, consultant, podcaster and director. Moderating international conferences and corporate events takes her all over the world, interviewing thought leaders, world leaders, future leaders and today’s changemakers. She is also a member of the McCain Institute's Global Advisory Council in the US.

Watch the full programme

Each film included in this programme has been approved and complied by the organisation associated with that content as identified in the descriptions above.

Thanks to our association partner

Genetic Alliance UK

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. Our members and the people they support are at the heart of everything we do. We advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.

For more information visit the Rare Disease UK website

Thanks to our partners

Related Articles