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Track 1 – Live 

Live talks, panel discussions, fireside chats, Q&A

TimeWhat's on?SpeakersWhat's it all about?
09:00Welcome to RAREfest20Take time to familiarise yourself with the venue, to visit exhibition stands, preview the gallery and introduce yourself in the chatrooms before the programme begins.
09:45 – 10:45A Journey of Hope

Ceridwen Hughes - Same but Different
Shirlene Badger - Illumina
Tom Almeroth-Williams - Parent of a child with a rare condition
Maja Bartoszewicz-Moritz - Rare diseases patient ambassador

In a world where labels and diagnosis are often framed negatively, this discussion, featuring a short film 'Journey of Hope' highlights the reality of both the search for a diagnosis and the impact of the diagnostic moment. A moving conversation between world leaders in genetic sequencing technology and the parents who have benefited from this.

10:45 - 11:15Remo networking

Log into the Remo networking space and pick a table to chat, network and mingle

11:15 – 11:55Powering up Rare Diseases with Artificial Intelligence

Simone Manso - Healx
Rudy Benfredj - Mendelian
Maria Picone - TREND Community

Dr Caroline Hargrove - CTO, Babylon Health

In this panel discussion Rudy, Maria and Simone share how human intelligence and technology combined can help diagnose earlier and at scale, make drug discovery faster, smarter and safer and can analyse social media conversations to understand diseases from patient and caregiver perspectives.

12:00 – 12:45Remo networkingLog into the Remo networking space and pick a table to chat, network and mingle
12:45 – 13:30

Lung Doctors:
Rare, Well Done

Dr Jenny Dickens - Cambridge Institute for Medical Research (CIMR) & Addenbrooke’s and Royal Papworth Hospitals
Professor Stefan Marciniak - Cambridge Institute for Medical Research (CIMR)
Eimear Rutherford - Cambridge Institute of Medical Research (CIMR)
Nikita Zubkov - Cambridge Institute of Medical Research (CIMR)

Some of the Cambridge Institute or Medical Research Team join us to talk lungs. How do lungs become scarred? And how do we prevent this happening? Jenny will explain how looking at rare lung diseases can tell us so much about our lungs in health as well as in disease.

Smokers can develop breathlessness through the loss of lung tissue. Stefan will explore why some individuals develop this at a much younger age, diving deep into the SERPINA1 gene with some sophisticated microscopic techniques.

Eimear and Nikita, fellow CIMR researchers join the panel to take questions from the audience.

14:00- 14:45Gene Therapy for Rare Disorders

Dr Bobby Gaspar - Orchard Therapeutics & UCL Great Ormond Street Institute of Child Health
Georgina Morton - Archangel MLD Trust
Professor Tim Cox - University of Cambridge & Addenbrooke's and Papworth Hospitals, Cambridge

Georgina's daughter Ava was accepted onto a clinical trial of Gene Therapy for a rare lysosomal storage disorder, Metachromatic Leukodystrophy (MLD) in 2014. Bobby is a pioneer in Gene Therapies. They join Tim to talk about the hope that gene therapy brings for rare, single-gene disorders and their joint campaign for more comprehensive newborn screening in the UK.

15:00 – 15:40Is Obesity a Choice?

Dr Giles Yeo - MRC Institute of Metabolic Science

Dr Kat Arney - First Create The Media

Giles chats to Kat about how studying rare diseases of obesity has given us new insight into normal variations of body weight. He wants to convince people that by us understanding a rare condition there is a benefit to broader society.

15:40 - 16:00Remo Networking

Log into the Remo networking space and pick a table to chat, network and mingle

16:00 – 16:40Solving the Problems of Rare Disease

Onno Faber - AllStripes & Rarebase.org

Dr Jason Mellad

Rare disease is a complex problem, and although every disease is different, as patients they find themselves in the same boat. Onno invites you to join him to discuss what can we do better as a community to increase the chances of finding a treatment?

16:40 – 17:00The Finale
Unique Feet: Chameleons

Cambridge Rare Disease Network’s children’s community performance

Unique Feet, a community of children affected by different rare diseases, unable to come together to rehearse their RAREfest20 dance performance,  invite you to join them instead as they emerge from the cocoon of shielding and social isolation to be together as a community again.

All Day: On demandPatient Innovation Challenge:
What are your Challenges for us?

Dr Louise Jopling - Eastern AHSN (Academic Health Science Network)
Jag Ahluwalia - Eastern AHSN (Academic Health Science Network)

We know that people with rare diseases face challenges which could benefit from an innovative approach, which is why we are asking for your lived experiences and insights to tell us how we can help. What are the challenges that are often unseen? How can we be more inclusive when we develop innovations? Eastern AHSN invites you to share your experiences to help them develop a set of challenges which they can put to the innovation community to find and develop solutions to meet your needs.

All Day: On demandWe’ll all be Patients One Day

Onno Faber - Possibility thinker, problem solver, entrepreneur, public speaker, rare disease patient and most recently co-founder and CEO of Rarebase.org

In this inspiring TEDxSanFransisco talk, Dutch entrepreneur Onno Faber shares the origins of his mission to accelerate the development of treatments for rare diseases. In 2014, Faber was diagnosed with NF2, a rare genetic disease that affects only 1 in 30,000 people. Instead of feeling defeated after learning of the diagnosis, he sprung into action and founded his company RDMD (now know as AllStripes) to make treatments for such diseases more accessible. Watch this to be inspired before meeting Onno live at 4pm in Track 1.
Filmed at TEDxSanFrancisco: Dare To Know on October 3rd, 2019, at the Herbst Theatre.


Track 2 – Live


TimeWhat's on?SpeakersWhat's it all about?
10:45 – 11:15

Rare Disease Myth Busters and Quiz

Rare Revolution Youth
Daisy Marriott
Eddison Miller
Georgina Hart 

Have you ever been told you don’t look sick? Or maybe someone has asked you a question about your disability that has left you cringing inside. Well the RARE Youth Revolution are here to start busting these myths and testing your rare disease knowledge!

12:00 – 12:45

The DNA Doctor live! Understanding your genetic code

Dr Melita Irving - Guy’s and St Thomas’ NHS Trust 

Dr Lucy McKay - Medics4RareDiseases

Join Melita and Lucy who'll be extracting DNA live! Don’t worry, there won’t be any blood and gore around, just a few juicy strawberries and some washing up liquid! Join them armed with your strawberries and your genetics questions – it will be fun and informative (and very messy!).
13:15 - 14:00

How do we start this conversation?

Adam Pearson
Dagmar Bennett
Ross Lannon
Jordan Mossom
Graham Miller
Vicki Donald

How do we finesse the art of starting, maintaining and finishing conversations about complex subjects? Join Adam Pearson and friends to find out how they tackle this tricky topic.
14:40 – 15:00Rare Youth: Hot Topics

Rare Revolution Youth
Daisy Marriott
Eddison Miller
Georgina Hart 

Rare Youth Revolution is talking about growing up with rare conditions and managing mental health whilst going through life’s sometimes scary, but exciting, milestones in education, employment and relationships. They'll be sharing their own experiences whilst tackling some taboos. 
15:00 – 16:00Made with hope, butter, and love: Cookie decorating for curesDana Perella - Cookies4Cures, USAJoin Dana live for a cookie buttercream icing decorating lesson where she'll be telling us a bit more about her incredible fundraising mission to support rare disease research for her friends affected by Batten Disease, PANs, Spinal Muscular Atrophy and MCTO. Find the recipe in the Cookies4Cures exhibit and have a go yourself!