In the run-up to Rare Disease Day 2021 (28 February), Congenica compiled thoughts, news and opinions on the importance of rare disease diagnostics available on the live blog here.
It includes, podcasts, articles and a range of videos with:
- Lynsey Chediak, Project Lead at World Economic Forum discussing what rare disease and precision medicine means to her.
- Jeff D'Angelo, founder of the CHAMP1 Foundation shares with us his thoughts on Rare Disease Day, the community and his son, JJ.
- Allison Watson, founder and CEO of the Ring20 Research and Support group UK, talks to us about r(20), a rare form of epilepsy.
- Nuala Summerfield, founder of the Schinzel-Giedion Syndrome Foundation talks to us about Schinzel-Giedion Syndrome and her daughter, Ophelia.
- Vivienne Parry, writer and broadcaster, Head of Engagement at Genomics England speaks to us about why "understanding the rare is key to understanding the common".
- Malisa Rust, Associate Director of Patient Engagement at PTC Therapeutics speaks to us about her Alpha-1 Antitrypsin deficiency, her family and the diagnosis journey.
- Luke Rosen, founder of KIF1A.org, a non-profit organisation working to discover treatment for KIF1A Associated Neurological Disorder.
- Alastair Kent, Patient Advocacy and Engagement Advisory Board Chair, Alastair Kent OBE talks to us about the history of rare disease diagnostics and the globalization of Rare Disease Day.
Charles Steward