Saturday 26th Nov
10:00 UNTIL 16:00
Talks, monologues, panel discussions, film, music
10:30 – 11:30
RISHI NAG – the Singing Scientist
Genomics the Musical! Rare Disease edition
A one person show where the fundamentals of genes and our DNA are explained using a series of ‘musical mini-lectures’ with catchy songs performed with a video backdrop. All done with a light touch of humour! Fun for the whole family!
11:30 – 12:00
Panel Discussion
Finding a Needle in a Haystack
Experts in genomics, newborn screening and AI respond to soundbites from people living with rare conditions who’ve faced a diagnostic odyssey. How can we find the needle in the haystack when doctors meet a condition they’ve never seen before?
11:30 – 12:00
Amanda Pichini – Genomics England
Finding a Needle in a Haystack – panel
Amanda brings her expertise in genetic counselling and her knowledge of the Genomics England newborn genome screening research programme to this panel discussion. What might be the benefits, challenges, and practicalities of sequencing and analysing newborns’ genomes?
11:30 – 12:00
Dr Peter Fish – CEO of Mendelian
Finding a Needle in a Haystack -panel
Peter will approach this topic with particular expertise in using artificial intelligence and intelligent technology to solve some of the most challenging diagnostic puzzles.
11:30 – 12:00
Kate Downes – NHS East Genomic Laboratory hub
Finding a Needle in a Haystack -panel
Kate will explore how the delivery of rare disease genomic testing at the new NHS Genomic Laboratory Hubs can help people find answers to complex diagnostic questions.
11:30 – 12:00
Lydia Seed – CamBridge University & podcast host
Finding a Needle in a Haystack – panel
Lydia hosts this panel of experts to explore how their various areas of expertise in genomics and intelligent technology can help unravel some of medicine’s most complex diagnostic challenges.
11:30 – 12:00
Angela Lochmuller – Kings College London
Finding a Needle in a Haystack – panel
Angela co- hosts this panel of experts with Lydia Seed. Together they also co-host their educational podcast ‘Genomics Unravelled’ & co-founded Cambridge University Genomic Medicine Society
12:15 – 12:45
Prof Evan Reid – Cambridge Institute of Medical Research
DNA is the Blueprint. But for What?
Rare genetic diseases are caused by alterations in the DNA code – but how? Evan will explain how changes in DNA code translate to alterations in proteins, their function and disease mechanisms
13:00 – 14:00
Your Short films on the big screen at RAREfest22
Story-telling through your eyes
Rare Charities, research groups amd other organisations share their short films to help tell their stories and give powerful insights into their live sand their work in rare diseases
14:15 – 14:45
Georgina Windsor – Cambridge University
Anthropology and my rare disease
Ever wondered what ancient humans might teach us about health and disease? Georgie studies biological anthropology which has helped her to understand the notion of a diagnostic odyssey, complexities of genetics and adaptation, and shortfalls of modern medicine in treating patients as pathologies.
15:00 – 15:30
Dr Lucy McKay – Medics4Rare Diseases
Rare Youth Monologues
Rare Youth Monologues is a spoken word performance in which four Rare Youth Revolution team members will share a monologue about an experience they’ve had or reflections they’ve made on being a young person living with a rare condtion. Lucy will guide us through the session & Q&A
15:00 – 15:30
Chelsea Wong, RARE Youth Revolution
Rare Youth Monologues
Rare Youth Monologues is a spoken word performance in which Chelsea and other Rare Youth Revolution team members will share a monologue about an experience they’ve had or reflections they’ve made on being a young person living with a rare condition.
15:00 – 15:30
Eddie Bartlett, Rare Youth Revolution
Rare Youth Monologues
Rare Youth Monologues is a spoken word performance in which Eddie and other Rare Youth Revolution team members will share a monologue about an experience they’ve had or reflections they’ve made on being a young person living with a rare condition.
15:00 – 15:30
Katie Callaghan, Rare Youth Revolution
Rare Youth Monologues
Rare Youth Monologues is a spoken word performance in which Katie and other Rare Youth Revolution team members will share a monologue about an experience they’ve had or reflections they’ve made on being a young person living with a rare condition.