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RAREsummit21 Agenda – Draft

Live programme for 7th October 2021

Cambridge Rare Disease Network - RAREsummit21 Agenda - Draft 1

photo credit, Martin Bond, A Cambridge Diary

Talks, panel discussions, fireside chats, Q&A, workshops, live pitching, networking

TimeTopic & session formatSpeakersSession description
Virtual platform opens

Familiarise yourself with the venue, visit exhibition stands, preview the gallery and introduce yourself in the chatrooms


Welcome address

CamRARECircling back and looking forwards
CamRARE celebrates its 5th RAREsummit. We'll be exploring what progress has been made and what the vision is for the future of rare diseases
09:00Live panel
Rare Equity

Nicola Miller, Rare Revolution Magazine
Kerry Leeson-Beavers, Breaking Down Barriers
Kevin Mott - Member, Board of Directors, NephCure Kidney International    
Jennifer Wilson, Director of Patient Advocacy in Europe, Travere 
Tammy Boyd, Director of Health Policy and Legislative Affairs, Black Women’s Imperative                             
Farah Akhtar, Rare mum and member of the xeroderma pigmentosum community 

A panel discussion addressing equity, diversity and inclusion in rare diseases 
9:40Live Talk with Q&A
Rare Disease Health Information Delivered Well

Dr. Tim Ringrose - CEO & Co-founder, The Cognitant Group
John Lee Taggart - Communications & Campaigns Manager, Niemann-Pick UK / International Niemann-Pick Disease Alliance
Daniel Lewi- Co-Founder, Cure & Action for Tay-Sachs (CATS) Foundation

Providing clear reliable knowledge enabling informed decisions
Exploring the challenges of developing trustworthy, reliable, accessible health information on rare diseases.  How do patients like their health information delivered?  How can the right information allow them to become actively involved in improving their health, and enabling healthcare professionals to optimise their care? 

10.20Networking, exhibition zone and gallery explorationMeet and mingle live with attendees, exhibitors and poster creators

Live Talk with Q&A
Can We Successfully Run Clinical Trials Without Placebos?

Femida Gawdry-Sridhar - Founder and CEO, Pulse Infoframe
Daniel Lewi - Head of Business Development and Patient Advocacy, Pulse Infoframe and Co-Founder, Cure & Action for Tay-Sachs (CATS) Foundation

Why is structured data collection vital in developing synthetic control arms for rare disease trials?
Synthetic control arms ensure that all trial participants receive the active treatment. Vital for so many rare disease patients where time is in limited supply. This approach is being increasingly considered by companies developing treatments for the rare disease community. But how does this work and why is patient data so important? 

11.25Workshop with live Q&A
Amplifying the Patient Voice through Patient Voice Publications
Emma Sutcliffe - SVP Patient Insights and Solutions, Prime Global 
Jess Duggan  - Patient Advocate and Volunteer, SynGAP Research Fund 
This session will explore PVPs
PVPs tell the patient story; from real world experience and burden of disease to hopes for the future, bringing the patient voice to pharma for enhanced patient engagement. Vitally, PVPs drive engagement and better outcomes for patients by telling the patient story when pharma is meaningfully listening. Join this session to hear about how PVPs support the triple win, for patients, for pharma, and for society.
12.00Networking, exhibition zone and gallery explorationMeet and mingle live with attendees, exhibitors and poster creators

Live pitching
Innovation Challenge: Rare Diseases 

Alex Lloyd - Principal Advisor, Commercial Delivery Lead, Eastern Academic Health Science Network 
Dragon's Den Judges

Louise Jopling - Commercial Director Eastern AHSN
Alastair Kent - Co-Chair of UK Rare Disease Policy Board
Sean Richardson - General Manager Alexion Astra Zeneca UK
Sophie Muir - Timothy Syndrome Alliance
Charles Steward - Patient Advocacy and Engagement Lead - Congenica
Dr Gemma Chandratilllake - CamRARE Chair and Education and Training Lead NHS East Genomics

Five Innovators pitch their rare disease challenge solutions to the RAREsummit21 audience
At RAREfest20 the Eastern AHSN (Academic Health Science Network) asked people living with rare conditions what their biggest everyday challenges were. Our community said, we listened.  The innovation community have responded with tech and digital solutions to help with care coordination, wellbeing and mental fatigue or ensuring health information is done well. Today we'll hear 5 of the best solutions live.  

Innovators pitching:

(in alphabetical order)  

  • Ascelpius Digital – A paediatric rare disease diagnostic portal
  • Medwise.ai – Providing health care professionals with vetted and contextualized knowledge about the treatment and management of rare diseases
  • nOink - Real world data capture and information for rare disease patients and their families to improve care.  A tool for rare disease families to diarise their condition(s) for the benefit of themselves and their clinicians
  • Thriving AI Limited – A tool that integrates health and social care, formal and informal care around a Thriver, the person being cared for and is underpinned by machine learning and AI capabilities
  • Vitaly Collaborative decision making - a state-of-the-art tool for healthcare professionals embedded in an interoperable platform on top of video-conferencing, image sharing and other HIE-relevant functionalities

13.30Networking, exhibition zone and gallery explorationMeet and mingle live with attendees, exhibitors and poster creators
14.00Live Talk with Q&A
UK Rare Disease Framework: Action Plans Update and Engagement
Lauren Watson - Rare Diseases Lead, Genomics Science and Emerging Technologies, Department of Health and Social Care
Kath Bainbridge - Head of Genomics Science and Emerging Technologies, Department of Health and Social Care
The UK Rare Disease Framework action plans - where are we now and how do we get involved?
At RAREsummit19, Baroness Nicola Blackwood, then Minister for Innovation for the UK Government, invited attendees to join a National Conversation on rare diseases and have their say on the future of UK rare diseases policy.  Guided by these responses, the Government launched the new UK Rare Diseases Framework in 2021, outlining a coherent, national vision on how the UK will improve the lives of those living with rare diseases. Join this session to hear about how the action plans related to the Framework are evolving and how you can get involved in the next stages.
14.20Live Panel
Generation Genome
Dr Richard Scott – Clinical Director, Genomics England                                   
Dr Sarah Bowdin – Medical Director, East Midlands and East of England Genomics Laboratory Hub
Sasha Henriques – Principal Genetics Counsellor, Guy's and St. Thomas' NHS Foundation Trust
Rebecca Middleton  - Vice Chair Genomics England Participant Panel
Circling back and looking forwards
The panel will reflect back on the genomic revolution of the last 5 years and the difference it has made for rare disease patients and lay out their plans and vision for the coming 5 years. 
15.00Networking, exhibition zone and gallery explorationMeet the experts, mingle live with attendees, exhibitors and poster creators

Fireside Chat with Q&A
Medicines Discovery for Rare Diseases

Steve Rees – VP Discovery Biology, AstraZeneca   
Sharon Barr - Senior Vice President, Head of Rare Disease Research and Product Development, Alexion AstraZeneca           
Facilitator  – Ilan Chaitowitz - CamRARE Trustee, Nomura Asset Management

Medicines Discovery: The potential of genomic medicines for rare diseases
Exploring Astra Zeneca's recent move into the rare disease therapeutics space with Alexion Pharmaceuticals and the potential opportunity offered by the rapid advance in CRISPR medicines, oligonucleotides and other gene therapies



Live Panel
Patient Group and Industry Partnering: What are the right ingredients to help catalyse new treatments? 

Dr Ron Jortner – Trustee CamRARE,  CEO, Masthead Biosciences
Dr Madhu Madhusudhan - Senior Business Manager, LifeArc
Sophie Muir - Timothy Syndrome Alliance
Julia Hawkins - General Partner at LocalGlobe, Board Trustee of Shwachman Diamond Syndrome UK
Dr Bruce Bloom - Chief collaboration Officer, Healx 

In developing rare disease treatments, it is often through serendipity that new ways forward are discovered. Can systematically linking stakeholders in the right setting help to catalyse treatment development, what are the right ingredients and how can patient groups and industry best prepare for collaborations? This panel will discuss the concept and share their thoughts and experiences.

Short Film Short film
The story behind Unravel: How a rare disease patient organisation is working with industry
Shirlene Badger  - Patient advocacy specialist, Illumina
Allison Watson - CEO, Ring 20 Research and Support UK CIO                       
Jo Balfour  - Managing Director, Cambridge Rare Disease Network

Exploring the narrative of a patient group's growth and development
A short documentary film chronicling the journey and growth of a rare disease patient group, the opportunities they have grasped and the impact this has had on their community. Ring20 took to the stage at RAREsummit 2019 and shared their challenges and unmet needs with the audience. Who could help solve their diagnostic odyssey? Who is actively listening?


Closing address

All Day: On Demand

Early Access Programs

Naomi Litchfield – Global Patient Advocacy Lead, Bionical Emas (Moderator)
Alix Hall - Managing Director, The Isaac Foundation, Canada
Christine MacCracken - Head, Patient Strategies & Solutions - Janssen Pharmaceutical Companies of Johnson & Johnson, US

Collaborating, listening and educating effectively with patient groups
Where all options have been exhausted, Early Access Programs can offer ethical, compliant, and controlled mechanisms of access to investigational medicines outside of clinical trials, before the commercial launch of the medicine. How can the pharma industry support patient groups to navigate the complexities? 
All Day: On demandGlobal Collaboration: Looking East

Dr. Ammar Masood - Lead Operations South, DRK Pharma Solutions
Dr. Salman Kirmani
 - Associate Professor, Department of Paediatrics and Child Health, Aga Khan University Hospital

Prof Dr. Huma Cheema - Prof. Emeritus Children's Hospital and Institute of Child Health, Lahore
Asim Rauf - Chief Executive Officer, Drug Regulatory Authority of Pakistan
Abdur Rasheed - Director, Division of Pharmacy Services, Drug Regulatory Authority of Pakistan
Dr Harvey F Lodish - Massachusetts Institute of Technology (MIT)
Amer Haider - Principal, GeneEquity

What are the opportunities for developing Rare Disease therapies in South Asia?
This panel session will explore consanguinity and the rare disease burden in this region, and the resulting potential for rare disease research and innovation. We'll examine the need for international cooperation, aligning regulatory ecosystems for clinical trials to best improve the situation in this flourishing destination for rare disease progress.