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RAREsummit23 Programme

Talks, panel discussions, Q&A, fireside chats, breakout sessions, live pitching, networking
Meet the speakers
A snapshot of the programme for RAREsummit23. Check the www.camraredisease.org/raresummit23 speaker, exhibitor, poster pages for detailed profiles
TimeTopicSession descriptionSpeakers
08:30 - 08:55Registration and networkingFamiliarise yourself with the venue, visit exhibition stands, view posters and grab a coffee and mingle.
08:55 - 09:10Welcome addressCamRARE welcomes you to their 6th RAREsummit.CamRARE Chair of Trustees, Dr Gemma Chandratillake.
09:10 - 09:50Diagnostic Advances: Beyond the GenomeGet to know your omics: Metabolomics, transcriptomics, proteomics and AI! Heralding a new era of diagnostic potential for rare diseases.Chair: Dr Gemma Chandratillake - CamRARE, Dr Nikolas Pontikos - Eye2Gene & Moorfields Ophthalmic Reading Centre & Clinical AI Lab, Prof William Griffiths - Professor in Mass Spectrometry, Biomedical Sciences, Swansea University, Dr Julia Carrasco-Zanini-Sanchez - Postdoctoral Researcher, Queen Mary University of London, Dr Jamie Ellingford - Senior Research Fellow, University of Manchester & Lead Genomic Data Scientist, Genomics England
09:50 - 10:30Rare Youth Voices and Choices You chose your priorities for the Rare Disease Framework. What would ours be? Young adults living with rare conditions share their priorities for a Rare Disease framework which speaks for them.Introduced by Loretta MacInnes: CamRARE Trustee Chair: David Rose - Rare Revolution Speakers: Max Fisher - Revvity, Ellie Cornwell - CamRARE Unique Feet, Katrina Brooks - Rare Youth Revolution, Eric Omand Lewis - CamRARE Unique Feet, Maxwell McKnight - Disability Advocate and ARU University.
10:30 - 10:45BreakBrowse the exhibits and posters, grab a coffee and network. See exhibitors and posters below.
10:45- 11:50Rare Research and FundingRare Disease researchers take part in a poster and pitch session to share their rare disease research project and novel approaches to engaging patients in this. They'll be joined by a panel of research funders to explore the challenges, opportunities and novel approaches to funding this vital research.Chair: Josie Godfrey, Director - JG Zebra Consulting, Researchers: Dr Stephanie Efthymiou - UCL Dept. of Neuromuscular Disorders, Prof AJ McKnight - Queens University Belfast, Prof Siddharth Banka - Manchester Rare Conditions Centre, Dr Nick Sireau -AKU Society, Prof Jenny Gallop - Gurdon Institute, University of Cambridge, Hannah Stark - NIHR Bioresource. Funders: Richard Evans - Medical Research Council, Joanna Davidge - LifeArc, Dr Ritchie Head - Ceratium, Dr Priya Viswanathan - NIHR, Emma Davies - Healx.
11:50 - 12:40Solving everyday challenges for the rare disease community with tech solutionsEastern AHSN hosts a live Dragon’s Den Tech Solution Pitching Competition. The rare disease community posed the challenges, community experts have shortlisted, the audience casts the final vote.Chair: Dr Lamprini Kaftanzi, Eastern AHSN Innovators: Saran Muthuah - Enrich My Care, Sam Milliken -Smith - Hibi Health, Jason Colquitt - Acroos Healthcare & Matrix, Jignesh Barasara - Liberate Pro, Andreea Prisecaru - Beyond Blood Diagnostics Judges: Louise Jopling - EAHSN, Sean Richardson - Alexion AstraZeneca, Sue Berry - CamRARE, Jill Harkin - Sanofi, Gemma Chandratillake - CamRARE.
12:40 - 13:50LunchBrowse the exhibits and posters, enjoy a spot of lunch and network to your hearts content. See exhibitors and posters below.
13:50 - 14:40Advanced Therapies: Navigating Challenges and Fostering Collaboration for Patient AccessCell and gene therapies are changing the way we think about and treat rare diseases. We'll ask "is there adequate service provision, staffing and infrastructure in place to deliver each and every gene therapy safely, effectively and efficiently?”Chairs: Sheela Upahadaya - Life Science Consultant, Dr Emma Green - CamRARE Trustee Panellists: Darren Walsh, CEO - Orchard Therapeutics, Fiona Marley - NHS England, Wendy Kane - Roche, Paul Selby / Brendan O’Sullivan (ATMP) - Pharmacy Lead, East Genomics CUNHS (Service Provision) Karen Harrison - ALEX TLC (Patient Organisation, Newborn Screening Collaborative), Finn Willingham - Head of ATTC Network Coordination, Cell and Gene Therapy Catapult.
14:40 - 15:20The Reflection Room: RAREnthoodExploring the diversity of experiences for men living with rare conditions growing up and considering parenthood. Diagnosis differences, family life, the impact of hospital stays and recovery time, education, careers, rare parenthood, cultural perspectives, relationships and mental health. Facilitator: Ilan Chaitowitz - CamRARE Trustee, David Rose - living with Occipital Horn Syndrome, Amit Ghose - Living with Neurofibromatosis Type 1, Tom Staniford - living with MDP Syndrome.
15:20 - 16:10Breakout session: Better GenomicsHow are we delivering better genomics for the future? Exploring Long Read (DNA) sequencing, diverse data and the power of scale.Facilitator: Dr Kate Downes - East Genomic Laboratory Hub Professor Matthew Hurles - Senior Group Leader, Wellcome Sanger Institute, Professor Mina Ryten - Prof of Clinical Genetics, UCL Institute of Child Health, Matt Silver - Genomics England, Steven Hardy - Rare Disease Lead, National Disease Registration Service.
15:20 - 16:10Breakout Session: NHS Newborn Screening Programme - what is it and how is it evolving?The NHS newborn blood spot (NBS) screening programme. What are the aims? Who's screened? For which diseases? How do we ensure fair and equal access? What difference can early diagnosis make? Is it enough? What next? Come and find out and take part in the discussion in this breakout session open to all. Facilitator, Dr Lucy Mackay - CEO Medics4RareDiseases, Nick Meade - Genetic Alliance UK, Dr David Elliman - Clinical advisor to the UK National Screening Committee and clinical lead to the NHS Newborn Blood Spot Screening Programme, Sophie Thomas - MPS Society & Newborn Screening Collaborative, Giles Lomax - SMA UK, Oxford University bloodspot screening project.
16:10 - 16:25BreakBrowse the exhibits and posters, grab a coffee, and network to your hearts content.See exhibitors and posters below.
16:25 - 17:15Breakout session: Measuring your success and the difference you makeAn interactive workshop for patient groups representatives and others to explore how to move beyond the 'bums of seats' and tick box feedback measaurements to truly understanding and showcasing the difference your work makes. Gain the skills to systematically collect robust data and measure the impact of your organisations activities.Led by Naman Kochar and Julia Kaut of Costello Medical - independent agency delivering medical communications and health economic services.
16:25 - 17:15Breakout session: Meet the funders. Meet the makers.An interactive session allowing the audience time to meet the makers and innovators of the EAHSN ‘Dragon’s Den’ session and the funders from the ‘Rare Research’ session. Put your questions to them in a speed dating style session. Funders: LifeArc, MRC, NIHR, Healx, AKU Society, Ceratium. Innovators x 5. Winning companies to be announced soon.
17:15 - 17:25Closing WordsA round up of the day, thankyous and call to action.CamRARE
17:25 - 18:30Drinks receptionJoin us for some relaxed networking with a drink and nibbles before head home.
During BreaksExhibitorsBrowse the exhibits and posters, enjoy some refreshements and network to your hearts content. Exhibitors include: CamRARE, Genetic Alliance UK, Metabolic Support UK, Rare Revolution Youth and Magazine, MPS Society, Medics4Rare Diseases, Beacon for Rare Diseases, AKU Society, NIHR Bioresource, International Prader Willi Syndrome Org, Rare Minds, Congenica, Newcastle University: John Walton Muscular Dystrophy Research Centre, Centre for Community-Driven Research, NHS East Genomics, British Porphyria Association, Pregnancy Associated Osteoporosis, Coalition to Cure CHD2, LifeArc, EAHSN Innovation Challenge winners and more.
During BreaksPostersBrowse the exhibits and posters, enjoy some refreshments and network to your hearts content. Posters include: Rare Patient Passport - CamRARE, Researcher-Caregiver Engagement in Lowe Syndrome and Dent Disease - Gurdon Institute, University of Cambridge, AKU, Trust and Confidence: Falling through the Gaps in the UK Rare Diseases Framework?, Genetic Alliance UK, MPS drug repurposing - Dept. of Medicine, University of Cambridge, Developing a Decision-Making Framework for Expanded Access to Gene Therapy in Rare Neuromuscular Diseases - Bionical Emas, You Are Not Alone - Ben's Friends, Patient Registries at the JWMDRC: where we are now and where we might go next - John Walton Muscular Dystrophy Centre, Newcastle University, Jordans Guardian Angels, Think Rare | Think Porphyria - British Porphyria Association , Living with Noonan Syndrome - Noonan Syndrome Association with Loughborough University, Galactosialidosis - Patient Advocate, CACNA1C-related disorders (CRD) & Timothy Syndrome Alliance (TSA), An introduction to CASK disorders - CASK Research Foundation, The DMD Hub Central Recruitment Database - Newcastle University, The Performance of a 22q11.2 Deletion Syndrome Case-Finding Algorithm in NHS Primary Care Data - Mendelian.