COVID-19 has forced everyone in the rare disease world to think and work in new and innovative ways and has created profound challenges for patients and carers to overcome. Within this theme hear first-hand about the impact of Covid-19 on the rare community, and the changes that are already coming to the sector.

Speakers:

Lara Bloom – CEO, The Ehlers Danlos Society

Jo Balfour – Managing Director, Cambridge Rare Disease Network

Lucy McKay – CEO, Medics4RareDiseases

Rebecca Steward – CEO, RareRevolution

Catriona Crombie – Associate Director: Technology Transfer and Philanthropic Fund Manager, Life Arc

Session Sponsor

As we move into winter, we are all braced for another challenging few months as we face the next surge in the COVID-19 pandemic. For many living with a rare disease isolation is nothing new, and the novelty will be seeing the wider world view life through their eyes. For others the uncertainty over the need to shield, the impact of Covid-19 on their illness, and the pressure of providing  advice and support to others in their community is a daunting prospect to face once more. So, as we move toward 2021, what next for the rare disease community?

Hosted by

Pushpa Hossain – Head of Patient Engagement, Advoacy and Research, Metabolic Support UK

Featuring

Rick Thompson  – CEO, Findacure

Tracy Lynch – Founder, Wolfram Syndrome UK

Joanne Taylor – Acting CEO, Metabolic Support UK

Nina Knight – Founder, Achrodysostosis Syndrome UK

Stacy Paddon – Yellow Brick Road Project

Brittany Anderson – Advocate, FD Warriors

Hosted by 

Sondra Butterworth – Director of Research and Social Impact, RareQoL

Speakers:

Prof. Tim Barrett – Honorary Consultant Paediatric Endocrinology and Diabetes, Birmingham Children’s Hospital

Kerry Leeson-Beevers – National Development Manager, Alstrom Syndrom UK

Maddie Collin – Project Coordinator, Gauchers UK

Richard Andrews – CEO, Healios

Hosted by

Lucy McKay – CEO, Medics4RareDiseases

Dan Jefferies – Trustee, Medics4RareDiseases

 Chaired by 

Gavin Jones – Director of Rare Disease, Open Health 

 Featuring 

Cara Westmark – Assistant Professor, University of Wisconsin 

Jay Roche – Head Human, HD-Ready 

Jonathan Morton – Agency Lead, Comradis 

Kristie DeMarco – President, Global DARE Foundation 

Dimitra Kiritsi – Consultant Dermatologist, Department of Dermatology; Medical Center, University of Freiburg

Speakers:

Justin Grace – Machine Learning Engineer, Healx

Shirlene Badger – Head of Patient Advocacy, Illumina

Rudy Benfredj – CEO, Mendelian

While big data and AI are helping to break some of the barriers to rare disease diagnosis and treatment development; patient collected data, patient input, and patient group collaboration remain key to the successful implementation of these techniques. During this session we will discuss how patient insights can progress drug development and how patient expertise can help cut through the noise when AI interrogates big data.

Hosted by

Karine Proulx – Market Access, Health Ecnomics and Outcomes Research Manager, Healx

Daniel Lewi – Head of Business Development, Aparito

Rudy Benfredj – CEO, Mendelian

Yannis Papanikolaou – NLP Scientist, Healx

Around 80% of all rare conditions have a genetic basis. Genonic technology is revolutionising our understanding of such conditions, and helping more genetic conditions to be identified each day. However, for many of us, grasping the basics of genetic science is a challenge, making diagnosis unbelievably complex, and leaving a full understanding of our condition and avenues to treatment or care harder to identify. In this session the team at Illumina will provide a brief introduction to the basics of genomic science to help us all tell our genomes from our transcriptomes.

The improvement in diagnostic technology in rare diseases is something to be lauded. However, with improved technologies come new challenges – how do we communicate these diagnoses and their implications to patients, and increasingly parents of newborns? How do we support those individuals to understand their next steps? How do we help them find help and, if they want, to make change in their condition? SWAN (Syndromes Without A Name) is a community of families affected by as yet unnamed genetic conditions, who address these challenges time after time. Join this session to discuss:

– The impact of a genetic diagnosis on a patient, and on new parents.

– How to deliver and explain genetic diagnoses in an accessible and sympathetic manner, and support families beyond that point.

– The importance of community support when your disease doesn’t even have a label.

– The role of the patient community in shaping the future of genetic care delivery in the UK.

Hosted by 

Lauren Roberts – Director of Support, Genetic Alliance UK

Speakers:

Daisy Marriott – Communications Assistant, Rare Revolution

Georgia Hart – Youth Ambassador, Rare Youth Revolution

Lucy McKay – CEO, Medics4RareDiseases

Joanne Byrne – Acting CEO, Metabolic Support UK

David Rose – Business Development Manager, Rare Revolution

Jen Tidman – Business Manager, ERN eUROGEN

Rachel Jones – Medical Director Sw.iich Health

Sam Fillingham – Trustee, PIP UK

It is easy when setting up a patient support group, or charity for a rare disease, to think that those affected are so few and far between, that all will feel a connection to your organisation. Of course, in truth this is not always the case. The way we think, see challenges, or identify problems will all be a product of our background and may not appeal to your whole patient community. While COVID-19 has dominated our collective conscious in 2020, issues of race and inclusivity have never been far behind. In this session we will discuss the challenges of engaging a diverse community of stakeholders and hear about the work being done to help rare disease patient groups represent patients of different races, religions, and backgrounds.

There are a number of different initiatives designed to amplify the youth voice in rare diseases; helping them to take control of their care, engage with the community and become better advocates for their condition. Join this panel to engage with these initiatives and to learn what can be achieved in the youth space.

Hosted by

Laurence Woollard – Director, On The Pulse Consultancy

Sally Hatton – Trustee, XLH UK

The importance of the patient voice has never been higher, but harnessing it, amplifying it, and effecting change remains a challenge for patient groups and companies alike. Finding new and creative ways to share the rare disease patient experience and cutting through the noise to highlight the unmet need within our community is a constant struggle. Same But Different have been at the forefront of some of the most creative approaches to telling patient stories in the UK rare disease community. Join this round table discuss:

• The ways you can reach a wider audience with your stories and experiences
• How to maintain an authentic patient voice, and to use stories for the benefit of the story-teller first and foremost
• Successful industry led awareness campaigns
• What successful engagement looks like for a patient association

Hosted by

Ceridwen Hughes – Art Director, Same But Different

Speakers:

Naomi Litchfield – Patient Advoacy Manager, Bionical

Daniel Lewi – Head of Business Development,  Aparito

Elin Haf Davies – CEO,  Aparito

Allison Watson – Founder, Ring20

Tim Buckinx – CEO, EpiHunter

Session Sponsor

Real world evidence is increasingly seen as an excellent source of information about rare diseases due to the difficulty of identifying patients for more conventional studies. Whether used to assess the impact of a new treatment or intervention, or to understand disease progress more completely, real world data can provide insights that are based on a more conventionally accepted evidence base.

But how can we begin to build a strategy to capture RWE on a given rare disease? What are some simple and accessible techniques for collecting and capturing this data, and how can we synthesise information from the existing published literature to get started? Join this session to discuss the basics of real-world evidence generation and consider the correct approach for your study or patient organisation.

Hosted by

Costello Medical Consulting

Having the right end point for your clinical trial is crucial to give you the best chance of success. These endpoints can only be developed with a detailed understanding of both disease progression and a true understanding of the patient experience of day-to-day life with the target condition. This roundtable discussion will focus on endpoint development, highlighting the impact that good and bad endpoints can have on a clinical trial. It will examine Aparito’s recently launched scheme to partner with patient groups to help in the development of new, clinically relevant endpoints.

Hosted by

Daniel Lewi  – Business Development Manager, Aparito

Delivering access to new rare disease medicines can be one of the biggest challenges in the development pathway. With the high price of the average orphan drug, access and reimbursement decisions can take years, and patients may be left in limbo, or find themselves with the burden of data collection in a managed access scenario.

In this panel Bionical’s Naomi Litchfield will talk to three people affected by rare conditions with very different experiences of these access challenges: a complete absence of treatment with no sign on the horizon; a young patient whose extraordinary enrolment in an Early Access Programme has had a huge impact on her life and condition; and a mother of two young children receiving monthly treatments through a managed access agreement. Join this panel to hear their experiences.

Hosted by 

Naomi Litchfield – Patient Advocacy Manager, Bionical Emas

What is the future for the rare disease clinical trial? How can clinical trialists respond to the challenge that COVID-19 has imposed on all of us, while still finding a way to increase patient participation and engagement in vital clinical research? How will we address the challenges of generating the evidence needed for the ultra-rare genetic conditions that new diagnostic techniques are increasingly helping us to uncover? Join us to see how our panel tackle these big questions and more besides!

Featuring

Rick Thompson – CEO, Findacure

Dr Melita Irving – Clinical Geneticist, Guys and St Thomas’ NHS Trust

Tony Hall – Co-founder, Findacure & Chief Medical Officer, Healx

Christa Van Kan – Founder, PSR Orphan Experts 

The use of digital technology in clinical trials has been expanding for years, and is now moving from ‘nice to have’ to a ‘must have’. This roundtable discussion will examine some of the challenges in developing new digital solutions for clinical trials, and how they can be delivered in a way that is right for patients. We will discuss the ways that technology can open up access to research studies, and consider whether technology can improve the human touch. Come ready to share your experience in clinical trial participation and delivery – what technological solutions have enhanced your experience, and which have got in the way?

Hosted by

Valeria Nicoli-Carr – Vice President, Patient Engagement, mdGroup

Featuring 

Adam Lawrence – Chair, HSP Support Group

Ashley Clarke – Youth Events and Fundraising Manager, Huntingtons Disease Association NI

Connor Webb – Advoacte, HYMS

Joanne Lee – ACT and Education Coordinator, Newcastle University

Kimberley Steele – Director of Patient-led Research, LGDA