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Saturday 26th Nov

10:00 UNTIL 16:00

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 1

Talks, monologues, panel discussions, film, music

10:30 – 11:30 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 2

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 3

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 4

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 5

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 6

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 7

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 8

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 9

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 10

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 

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 11

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

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 12

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

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

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

Cambridge Rare Disease Network - RAREfest22 | Saturday Speakers 13

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.