Sanofi is working to harness this modern technology to strengthen understanding and diagnostic outcomes for those living with a rare disease.

BETTER-CARE-FOR-RARE

RARE-DISEASE

Adopting big data & artificial intelligence to
advance diagnosis for rare diseases

Listen to Lucy McKay, CEO of Medics4Rare and Silvia Cerolini, Head of Innovation Specialty Care, Sanofi discuss the benefits of artificial intelligence (AI) and big data in the field of rare disease: “Tools like AI can search for cases, […], who might have a rare condition, in a way that without academic and personal experience, a doctor’s not going to be able to do for all of these rare conditions.” Lucy McKay
This recording is organised and funded by Sanofi.

<h2>In conversation with Lucy McKay, CEO of Medics4RareDiseases &amp; Silvia Cerolini, Head of Innovation Specialty Care, Sanofi</h2>

To explore the diagnostic odyssey further, Dr Lucy McKay and Silvia Cerolini take a deeper dive into this potentially life-changing technology, including the benefits and possible challenges that come with the use of big data and AI in the rare disease arena.
This recording is organised and funded by Sanofi.

<h2>Ways to apply digital and technological solutions to benefit people with rare diseases</h2>

Find out more about the transformative potential that collaboration and new technology hold in the field of rare diseases.

Sanofi is working to harness this modern technology to strengthen understanding and diagnostic outcomes for those living with a rare disease.

Welcome to the&nbsp;Better Care for Rare&nbsp;page, where we explore initiatives and projects aimed at improving the lives of those affected by rare lysosomal storage disorders.

Supporting Real-World Evidence Generation

Supporting the rare disease community

Fulfilling priorities in England Rare Disease Framework

Adopting big data &amp; artificial intelligence to advance diagnosis for rare diseases

Better Care for Rare

<h3>Sanofi’s vision for Better Care for Rare: a world where diagnosis, treatment and support for rare diseases is equitable and accessible, where the chance to live well with a rare disease has no exception, no matter who people are or where they are in their journey.</h3>
We, at Sanofi, hope to fulfil this vision through close alignment with the England Rare Diseases Action Plans in order to help solve the&nbsp;complex and unique challenges inherent in rare diseases.&nbsp;
Hear from experts on the future of rare diseases, including their thoughts and opinions on how clinical practice&nbsp;and services need to change to fulfil the priorities set out in the Rare Disease Framework.&nbsp;

Specialist Pharmacist in Inherited Metabolic Disease

Consultant in Inherited Metabolic Diseases at GOSH

Consultant in Metabolic Medicine at Salford Royal Hospital

Fulfilling priorities in England Rare Disease Framework. How can we make them a reality?

Sanofi’s broad range of resources continue to build on the knowledge within lysosomal storage disorders and empower the rare disease community by supporting professional bodies and HCPs with a variety of resources and initiatives across the four disease areas; Fabry, Gaucher, MPS I and Pompe. As a result, we have helped to contribute to the increased chances of early diagnosis and improved treatment plans. Watch this video to find out more about our continued commitment to support professionals in our shared goal for Better Care for Rare.

<h2>Supporting experts in rare disease</h2>
See how Sanofi continues to assist professional bodies and healthcare professionals in the field of rare disease.

Supporting the rare disease community

For over 30 years, Sanofi have worked with patients and doctors to generate data to deliver better care for patients with rare diseases. Watch this video to find out more about the milestones achieved since the establishment of the first rare disease registry in 1991.

<h2>Commitment to Rare Disease Registries</h2>

Supporting Real-World Evidence Generation: Rare Disease Registries

<h2>The History of Rare Disease Registries</h2>

Read the publication that highlights the history, process and impact of rare disease registries; the largest observation database for lysosomal storage disorders.

Antonio Ochoa-Ferraro speaks about the importance of collaborating and the emerging role of AI in the management of rare diseases.

<h2>In conversation with Antonio Ochoa-Ferraro – 
 Collaborating to innovate in rare diseases.</h2>

Watch the full interview with Antonio as he gives his perspectives on working in rare diseases and the potential impact of the Rare Disease Framework on clinical practice.

Antonio Ochoa-Ferraro, Specialist Pharmacist in Inherited Metabolic Disease

Dr Alex Broomfield explore the challenges and opportunities faced by the rare disease community.

<h2>In conversation with Dr Alex Broomfield – Challenges and opportunities in the field of rare disease</h2>

Watch the full interview with Dr Alex Broomfield.

Challenges and opportunities in the field of rare disease

Dr Alex Broomfield, Consultant in Inherited Metabolic Diseases at GOSH

Dr Karolina Stepien speaks about the potential of multi-stakeholder collaboration to improve patient care.

<h2>In conversation with Dr Karolina Stepien – Changes in clinical practice based on The Rare Disease Framework</h2>

Watch the full interview with Dr Karolina Stepien as she gives her perspective on how The Rare Disease Framework will help address some of the key challenges in rare diseases.

Exploring how the Rare Disease Framework may support the earlier diagnosis of rare diseases

 Dr Karolina Stepien, Consultant in Metabolic Medicine at Salford Royal Hospital


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Better Care for Rare

Latest Articles

Adopting big data & artificial intelligence to advance diagnosis for rare diseases

Better Care for Rare

Fulfilling priorities in England Rare Disease Framework. How can we make them a reality?

Supporting the rare disease community

Supporting Real-World Evidence Generation: Rare Disease Registries

Antonio Ochoa-Ferraro, Specialist Pharmacist in Inherited Metabolic Disease

Dr Alex Broomfield, Consultant in Inherited Metabolic Diseases at GOSH

Dr Karolina Stepien, Consultant in Metabolic Medicine at Salford Royal Hospital