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.