---
title: Rare Disease Day 2021 - Live Blog
description: The main objective of Rare Disease Day is to raise awareness amongst the public & decision-makers about rare diseases and their impact on patients' lives.
---

[Recent Posts](https://blog.congenica.com)

# [Rare Disease Day 2021 - Live Blog](https://blog.congenica.com/rare-disease-day-2021-live-blog)

 Written by [Simon Cooper](https://blog.congenica.com/author/simon-cooper) | Feb 24, 2021 9:00:00 AM

Jump to: [What is Rare Disease Day 2021?](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#RDD2021) │ [28 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#RDD) │ [27 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Saturday27) │ [26 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Friday26) │ [25 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Thursday25) │ [24 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Wednesday24) │ [23 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Tuesday23) │[22 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Monday22) │ [21 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Sunday21) │ [19 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Friday19) │ [18 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Thursday18) │[17 Feb](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Wednesday17)

 

## Sunday 28 February 2021

A Rare Disease Day virtual hug from Luke Rosen, founder of [KIF1A.org](https://www.kif1a.org/), a non-profit organisation working to discover treatment for KIF1A Associated Neurological Disorder.

 

### This morning, Genomics England have released a blog, written by Dr Charles Steward about West syndrome – a rare epilepsy.

Dr Charles Steward is the [Patient Advocacy and Engagement](https://www.congenica.com/patients/) Lead at Congenica. He is also a member of the Participant Panel at Genomics England and the Simons Searchlight Community Advisory Committee, USA.

> Happy Rare Disease Day! My article about a rare epilepsy my daughter has published today on [@GenomicsEngland](https://twitter.com/GenomicsEngland?ref_src=twsrc%5Etfw)'s website. [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) [@camraredisease](https://twitter.com/camraredisease?ref_src=twsrc%5Etfw) [@RARE\_Science](https://twitter.com/RARE_Science?ref_src=twsrc%5Etfw) [@lukebrosen](https://twitter.com/lukebrosen?ref_src=twsrc%5Etfw) [@EpilepsySparks](https://twitter.com/EpilepsySparks?ref_src=twsrc%5Etfw) [@bobigelow](https://twitter.com/bobigelow?ref_src=twsrc%5Etfw)
> 
> — Charlie (@charlesasteward) [February 28, 2021](https://twitter.com/charlesasteward/status/1365967640238428162?ref_src=twsrc%5Etfw)

 

> The day has arrived! It's [#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw)!
> 
> Data from the [#Genomes100k](https://twitter.com/hashtag/Genomes100k?src=hash&ref_src=twsrc%5Etfw) Project has provided highly-detailed information that will improve our understanding of [#rarediseases](https://twitter.com/hashtag/rarediseases?src=hash&ref_src=twsrc%5Etfw) and bring benefits to patients around the UK.[#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) [@rarediseaseday](https://twitter.com/rarediseaseday?ref_src=twsrc%5Etfw) [pic.twitter.com/4n31z6V6eK](https://t.co/4n31z6V6eK)
> 
> — Genomics England (@GenomicsEngland) [February 28, 2021](https://twitter.com/GenomicsEngland/status/1365965151418146818?ref_src=twsrc%5Etfw)

 

> Today is [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw)!
> 
> There are over 6⃣0⃣0⃣0⃣ rare diseases
> 
> 🌏 300 million people live with a rare disease accross the world
> 
> Rare diseases currently affect 3.5% - 5.9% of the worldwide population👨‍👩‍👧‍👦
> 
> Learn more about what is a [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw)
> 
> 👉[https://t.co/4axpDU3ofy](https://t.co/4axpDU3ofy) [pic.twitter.com/frHqVQhJLC](https://t.co/frHqVQhJLC)
> 
> — Rare Disease Day (@rarediseaseday) [February 28, 2021](https://twitter.com/rarediseaseday/status/1365962850007715843?ref_src=twsrc%5Etfw)

 

> It’s [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw)!! Rare epilepsies are rare diseases! 🧬🧠⚡️
> 
> Approx 30million people are affected by a rare disease in the EU alone!
> 
> Watch & share this video by [@rarediseaseday](https://twitter.com/rarediseaseday?ref_src=twsrc%5Etfw) to get a glimpse into the world of rare disease![https://t.co/xRxuiaxcpg](https://t.co/xRxuiaxcpg) [#epilepsy](https://twitter.com/hashtag/epilepsy?src=hash&ref_src=twsrc%5Etfw) [#rareepilepsy](https://twitter.com/hashtag/rareepilepsy?src=hash&ref_src=twsrc%5Etfw)
> 
> — Epilepsy Sparks (@EpilepsySparks) [February 28, 2021](https://twitter.com/EpilepsySparks/status/1365951133613776896?ref_src=twsrc%5Etfw)

 

> My son, Hugo, mid-pancake, tried to give [@lukebrosen](https://twitter.com/lukebrosen?ref_src=twsrc%5Etfw) a virtual hug back today - failed 🤦‍♂️[#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) [pic.twitter.com/rLSmDzMNMQ](https://t.co/rLSmDzMNMQ)
> 
> — Simon Cooper (@simoncooper) [February 28, 2021](https://twitter.com/simoncooper/status/1365971547287130114?ref_src=twsrc%5Etfw)

 

> Absolutely! It's a reminder that [#Genomics](https://twitter.com/hashtag/Genomics?src=hash&ref_src=twsrc%5Etfw) isn't just science, labs, bioinformatics, hospitals, phenotypes - it's about \*everything\* - using the tools we have, to help solve real-life issues for real patients and families. [#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw)
> 
> — Shane McKee (@shanemuk) [February 28, 2021](https://twitter.com/shanemuk/status/1366022002486743040?ref_src=twsrc%5Etfw)

 

 

> In the case of rare diseases, a support network among family members is more important than ever. I encourage those initiatives that support research and cures and I express my closeness to those who ill, especially the children, and their families.
> 
> — Pope Francis (@Pontifex) [February 28, 2021](https://twitter.com/Pontifex/status/1366032911833661447?ref_src=twsrc%5Etfw)

 

 

 

 

## Saturday 27 February 2021

 

> These gorgeous [#RareBears](https://twitter.com/hashtag/RareBears?src=hash&ref_src=twsrc%5Etfw) are winging their way to our [#UniqueFeet](https://twitter.com/hashtag/UniqueFeet?src=hash&ref_src=twsrc%5Etfw) kids as a surprise for [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw)! Lovingly stitched & stuffed by the awesome [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) team. [#RareBears](https://twitter.com/hashtag/RareBears?src=hash&ref_src=twsrc%5Etfw) is a grassroots project by [@RARE\_Science](https://twitter.com/RARE_Science?ref_src=twsrc%5Etfw) creating one-of-a-kind teddy bears for unique kids. [pic.twitter.com/7Bgxc5ozjG](https://t.co/7Bgxc5ozjG)
> 
> — Cambridge Rare Disease Network (@camraredisease) [February 27, 2021](https://twitter.com/camraredisease/status/1365593934081179648?ref_src=twsrc%5Etfw)

 

> Don't miss [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw)'s [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) blog, where our Head of Engagement, [@vivienneparry](https://twitter.com/vivienneparry?ref_src=twsrc%5Etfw) explains that looking into [#rarediseases](https://twitter.com/hashtag/rarediseases?src=hash&ref_src=twsrc%5Etfw) is the key to unlocking more common diseases, too. [https://t.co/OegX0z2IZq](https://t.co/OegX0z2IZq)
> 
> — Genomics England (@GenomicsEngland) [February 27, 2021](https://twitter.com/GenomicsEngland/status/1365715913723510790?ref_src=twsrc%5Etfw)

 

> We have created this video to celebrate [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) 28th February 2021. It features many of our inspirational children and reminds us all that there is happiness, fun and hope even in the darkest times. Please share our video to help us raise awareness [https://t.co/tjj4IkGPAo](https://t.co/tjj4IkGPAo)
> 
> — Schinzel-Giedion Syndrome Foundation (@foundation\_sgs) [February 26, 2021](https://twitter.com/foundation_sgs/status/1365399062049157120?ref_src=twsrc%5Etfw)

 

## Friday 26 February 2021

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.

 

> This little video is great! Why everyone should care about rare... 📣 [#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw) [https://t.co/DyFKOcD453](https://t.co/DyFKOcD453)
> 
> — Jillian Hastings Ward (@HastingsJ123) [February 25, 2021](https://twitter.com/HastingsJ123/status/1365011911327236097?ref_src=twsrc%5Etfw)

 

> We ate proud to be celebrating [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) on 28 February. Please share and help raise awareness 💙 [pic.twitter.com/BVipMjAktF](https://t.co/BVipMjAktF)
> 
> — Genetic UK (@GeneticDisUK) [February 26, 2021](https://twitter.com/GeneticDisUK/status/1365198675278979074?ref_src=twsrc%5Etfw)

 

Stay up to date with our Patient Advocacy and Engagement news

 

## Thursday 25 February 2021

On the run-up to Rare Disease Day, 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".

> RARE DISEASE DAY EVERY DAY: Siblings
> 
> Tristan is 10yrs old & a great cricketer! We’re honoured that our [#UniqueFeetFriend](https://twitter.com/hashtag/UniqueFeetFriend?src=hash&ref_src=twsrc%5Etfw) is sharing his day with us here on 28 Feb for [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw)
> 
> In today’s taster clip we get to see how siblings are affected too. [https://t.co/LNyjy7dxqY](https://t.co/LNyjy7dxqY) [pic.twitter.com/bchfgHo53Z](https://t.co/bchfgHo53Z)
> 
> — Cambridge Rare Disease Network (@camraredisease) [February 24, 2021](https://twitter.com/camraredisease/status/1364658756198490117?ref_src=twsrc%5Etfw)

 

> Check out our amazing leader Allison Watson talking about the rare form of [#epilepsy](https://twitter.com/hashtag/epilepsy?src=hash&ref_src=twsrc%5Etfw): Ring20 at [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) l! 🧠🧬
> 
> Allison is also the CEO of [@Ring20UK](https://twitter.com/Ring20UK?ref_src=twsrc%5Etfw) and a mum to a son with Ring20 (which, we say, makes her an expert!!)!! [https://t.co/9IVvhuTtRv](https://t.co/9IVvhuTtRv)
> 
> — ePAG Epicare (@EEpicare) [February 25, 2021](https://twitter.com/EEpicare/status/1364890047804284930?ref_src=twsrc%5Etfw)

 

## Wednesday 24 February 2021

Nuala Summerfield, founder of the [Schinzel-Giedion Syndrome Foundation](https://sgsfoundation.org/) talks to us about Schinzel-Giedion Syndrome.

Nuala has a daughter, Ophelia, with a mutation in the SETBP1 gene. Schinzel-Giedion Syndrome is an ultra rare disease with around 100 cases world-wide.

 

Stay up to date with our Patient Advocacy and Engagement news

> Cool research into genes associated with the epilepsies! 🕺🧬🔬 Check out the below! [#rareepilepsy](https://twitter.com/hashtag/rareepilepsy?src=hash&ref_src=twsrc%5Etfw) [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw) [#genetics](https://twitter.com/hashtag/genetics?src=hash&ref_src=twsrc%5Etfw) [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw)   
> [https://t.co/9dkRxfo8X3](https://t.co/9dkRxfo8X3) [pic.twitter.com/5nf51hQb95](https://t.co/5nf51hQb95)
> 
> — ePAG Epicare (@EEpicare) [February 24, 2021](https://twitter.com/EEpicare/status/1364534309210779648?ref_src=twsrc%5Etfw)

 

> Watch this short video to find out more about Schinzel-Giedion Syndrome. Thanks to [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) and [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) for including us in this great [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) initiative [#sgsfoundation](https://twitter.com/hashtag/sgsfoundation?src=hash&ref_src=twsrc%5Etfw) [#schinzelgiedionsyndrome](https://twitter.com/hashtag/schinzelgiedionsyndrome?src=hash&ref_src=twsrc%5Etfw) [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw) [https://t.co/L6UP9YAOrB](https://t.co/L6UP9YAOrB)
> 
> — Schinzel-Giedion Syndrome Foundation (@foundation\_sgs) [February 24, 2021](https://twitter.com/foundation_sgs/status/1364503674949685248?ref_src=twsrc%5Etfw)

 

> Are you planning to stay at home during [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw)?
> 
> Come to our website and join hundreds of events organised all around the globe! 🌎
> 
> You only need to click on your favourite! ✨ [https://t.co/jzMA7ttoMN](https://t.co/jzMA7ttoMN) [pic.twitter.com/rAfRo12Y5A](https://t.co/rAfRo12Y5A)
> 
> — Rare Disease Day (@rarediseaseday) [February 24, 2021](https://twitter.com/rarediseaseday/status/1364543679130701827?ref_src=twsrc%5Etfw)

 

## Tuesday 23 February 2021

This morning, [Allison Watson](https://www.linkedin.com/in/allison-watson-661a6891/), founder and CEO of the [Ring20 Research and Support group UK](https://ring20researchsupport.co.uk/), talks to us about r(20), a rare form of epilepsy. Allison has a son with r(20) and speaks about the karyotype chromosome tests and the importance of effective r(20) diagnosis.

 

> Sudden, severe onset of seizures in childhood for no reason?  
> Cognitive decline/regression?  
> Frequent night seizures?  
> Normal MRI, abnormal EEG?  
> No results from epilepsy gene panel?
> 
> Remember karyotyping and THINK r(20) syndrome[#RareDisease](https://twitter.com/hashtag/RareDisease?src=hash&ref_src=twsrc%5Etfw) [#diagnosis](https://twitter.com/hashtag/diagnosis?src=hash&ref_src=twsrc%5Etfw) [https://t.co/F6lWxP14ib](https://t.co/F6lWxP14ib)
> 
> — Ring20UK (@Ring20UK) [February 23, 2021](https://twitter.com/Ring20UK/status/1364138624695078912?ref_src=twsrc%5Etfw)

 

 

## Monday 22 February 2021

With less than one week to go before Rare Disease Day, [Patient Advocacy and Engagement](https://www.congenica.com/patients/) Advisory Board Chair, Alastair Kent OBE talks to us about the history of rare disease diagnostics and the gobalization of Rare Disease Day.

 

As well as the above video, Alastair Kent has written a blog for us on why [diagnosis is so important for rare disease patients](https://blog.congenica.com/why-a-diagnosis-is-so-important-for-rare-disease-patients).

> *"Fortunately, in developed health economies, most children are born healthy. But, sadly, sometimes our biology lets us down and we have a child who is born with a life-limiting condition, either as a result of genetics or environmental issues or a combination of those or other factors."*
> 
> <https://blog.congenica.com/why-a-diagnosis-is-so-important-for-rare-disease-patients>

[Read the full blog here](https://blog.congenica.com/why-a-diagnosis-is-so-important-for-rare-disease-patients).

 

> Listen to the new podcast "𝗧𝗵𝗲 𝗚 𝗪𝗼𝗿𝗱" by [@chris\_wigley](https://twitter.com/chris_wigley?ref_src=twsrc%5Etfw), CEO of [@GenomicsEngland](https://twitter.com/GenomicsEngland?ref_src=twsrc%5Etfw)🧬 speaking with [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw), [#genomic](https://twitter.com/hashtag/genomic?src=hash&ref_src=twsrc%5Etfw) scientist ([@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw)) - re being a parent and carer of children - one of whom had a [#𝗿𝗮𝗿𝗲𝗲𝗽𝗶𝗹𝗲𝗽𝘀𝘆](https://twitter.com/hashtag/%F0%9D%97%BF%F0%9D%97%AE%F0%9D%97%BF%F0%9D%97%B2%F0%9D%97%B2%F0%9D%97%BD%F0%9D%97%B6%F0%9D%97%B9%F0%9D%97%B2%F0%9D%97%BD%F0%9D%98%80%F0%9D%98%86?src=hash&ref_src=twsrc%5Etfw)![#epilepsy](https://twitter.com/hashtag/epilepsy?src=hash&ref_src=twsrc%5Etfw) [https://t.co/QnKmZPbtMi](https://t.co/QnKmZPbtMi)
> 
> — Epilepsy Sparks (@EpilepsySparks) [February 22, 2021](https://twitter.com/EpilepsySparks/status/1363824633649192963?ref_src=twsrc%5Etfw)

 

> Check out [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw)'s new 𝗹𝗶𝘃𝗲 𝗯𝗹𝗼𝗴 page for [#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw)! 😃  
> Already featuring:  
> 〰️ [@JeffDDAngelo](https://twitter.com/JeffDDAngelo?ref_src=twsrc%5Etfw) from [@CHAMP1Research](https://twitter.com/CHAMP1Research?ref_src=twsrc%5Etfw)   
> 〰️ [@LynseyChediak](https://twitter.com/LynseyChediak?ref_src=twsrc%5Etfw) from the [@wef](https://twitter.com/wef?ref_src=twsrc%5Etfw)  
> 〰️ [@chris\_wigley](https://twitter.com/chris_wigley?ref_src=twsrc%5Etfw) of [@GenomicsEngland](https://twitter.com/GenomicsEngland?ref_src=twsrc%5Etfw) chatting to [#genomic](https://twitter.com/hashtag/genomic?src=hash&ref_src=twsrc%5Etfw) scientist [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw)![https://t.co/Bj6vC9Iamp](https://t.co/Bj6vC9Iamp)
> 
> — ePAG Epicare (@EEpicare) [February 22, 2021](https://twitter.com/EEpicare/status/1363809526315700226?ref_src=twsrc%5Etfw)

Stay up to date with our Patient Advocacy and Engagement news

 

## Sunday 21 February 2021

> On this week’s episode of The G Word [#science](https://twitter.com/hashtag/science?src=hash&ref_src=twsrc%5Etfw) [#podcast](https://twitter.com/hashtag/podcast?src=hash&ref_src=twsrc%5Etfw), [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) discusses his experiences as a parent and carer of children with [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw) and conditions.[#epilepsy](https://twitter.com/hashtag/epilepsy?src=hash&ref_src=twsrc%5Etfw) [#cerebralpalsy](https://twitter.com/hashtag/cerebralpalsy?src=hash&ref_src=twsrc%5Etfw) [#rarediseaseday](https://twitter.com/hashtag/rarediseaseday?src=hash&ref_src=twsrc%5Etfw)[https://t.co/v6jXpZi4JY](https://t.co/v6jXpZi4JY)
> 
> — Genomics England (@GenomicsEngland) [February 21, 2021](https://twitter.com/GenomicsEngland/status/1363428432714084352?ref_src=twsrc%5Etfw)

## Friday 19 February 2021

Jeff D'Angelo, founder of the [CHAMP1 Foundation](https://champ1foundation.org/) shares with us his thoughts on Rare Disease Day, the community and his son, JJ.

CHAMP1 is an organization created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy as a result of mutations in the CHAMP1 gene.

> Happy Wednesday! We hope this adorable video of [#CHAMP1on](https://twitter.com/hashtag/CHAMP1on?src=hash&ref_src=twsrc%5Etfw) Lejla swinging at therapy makes your day like it does ours. Lejla will be three in a few weeks and she is the happiest little girl! 💜 [pic.twitter.com/gpxjn9p8Ok](https://t.co/gpxjn9p8Ok)
> 
> — CHAMP1Foundation.org (@CHAMP1Research) [February 17, 2021](https://twitter.com/CHAMP1Research/status/1362088206280380420?ref_src=twsrc%5Etfw)

## Did you know?

### Congenica recently launched a [Patient Advocacy and Engagement Advisory Board](https://www.congenica.com/patients/).

Leading advocacy professionals to ensure patient remains central to Congenica’s approach

The role of the Patient Advocacy and Engagement Advisory Board is to be the critical friend of Congenica, ensuring we serve patients to the fullest of our abilities.

The board will inform our product development and communications to make sure they serve patients as best they can.

Board members will also help guide the development of helpful content about genomic medicine and the patient journey. Our goal is to become the go-to, trusted source of information for both patients and clinicians.

> To illustrate just how many people in the world are affected by [#RareDisease](https://twitter.com/hashtag/RareDisease?src=hash&ref_src=twsrc%5Etfw), we love this [#RAREfact](https://twitter.com/hashtag/RAREfact?src=hash&ref_src=twsrc%5Etfw) from [@rarediseaseuk](https://twitter.com/rarediseaseuk?ref_src=twsrc%5Etfw)   
> "If all the people with a [#RareDisease](https://twitter.com/hashtag/RareDisease?src=hash&ref_src=twsrc%5Etfw) lived in one country, it would be the World's 3rd most populous country"  
> More than live in the USA![#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) [pic.twitter.com/yszDHEnG2Y](https://t.co/yszDHEnG2Y)
> 
> — Cambridge Rare Disease Network (@camraredisease) [February 19, 2021](https://twitter.com/camraredisease/status/1362763958898352132?ref_src=twsrc%5Etfw)

 

> Getting involved couldn’t be simpler: we are asking you to create a delicious toasted-sandwich in the comfort of your own home, with your family, or host a virtual event with friends and have a catch-up over a toastie on Rare Disease Day on Sunday, February 28th. [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) [pic.twitter.com/ImnCULQEdN](https://t.co/ImnCULQEdN)
> 
> — Rare Diseases IE (@RareDiseasesIE) [February 19, 2021](https://twitter.com/RareDiseasesIE/status/1362719235273871363?ref_src=twsrc%5Etfw)

 

> It is estimated that 1 in 17 people are either born with or develop a rare disease at some point in their lifetime and 70-80% of these have a genetic cause: [https://t.co/ayESnQhrNT](https://t.co/ayESnQhrNT)  
> See how Congenica and Genomics England are working together to provide better outcomes. [pic.twitter.com/WwgY4zZnJM](https://t.co/WwgY4zZnJM)
> 
> — Congenica (@Congenica) [February 19, 2021](https://twitter.com/Congenica/status/1362779978396540938?ref_src=twsrc%5Etfw)

## Thursday 18 February 2021

Lynsey Chediak, Project Lead at World Economic Forum discussing what rare disease and precision medicine means to her. #RareIsStrong #RareIsProud

It's great to see that Genomics England's [G Word podcast](https://genomicsengland.podbean.com/e/charlie-steward/) from [yesterday](https://blog.congenica.com/rare-disease-day-2021-live-blog?hs_amp=true#Wednesday17) is still being well received.

> Cant wait to listen to the [@GenomicsEngland](https://twitter.com/GenomicsEngland?ref_src=twsrc%5Etfw) podcast tonight, featuring [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) - the top dad, friend & genomic scientist from [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) with a passion for helping individuals & families affected by rare genetic diseases.[#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw) [#epilepsy](https://twitter.com/hashtag/epilepsy?src=hash&ref_src=twsrc%5Etfw) [#Genetics](https://twitter.com/hashtag/Genetics?src=hash&ref_src=twsrc%5Etfw) [https://t.co/mEyHXR12y7](https://t.co/mEyHXR12y7)
> 
> — Torie Robinson (@TorieRobinson10) [February 17, 2021](https://twitter.com/TorieRobinson10/status/1362082516988026882?ref_src=twsrc%5Etfw)

> For [#RareDiseaseDay](https://twitter.com/hashtag/RareDiseaseDay?src=hash&ref_src=twsrc%5Etfw) we need everyone to join the movement to redefine rare!
> 
> More than 300 million people living with a rare disease, families & carers form the rare disease community 🌎
> 
> Rare is many. Rare is strong. Rare is proud.
> 
> How will you redefine rare❓ [pic.twitter.com/yZikcmqoMT](https://t.co/yZikcmqoMT)
> 
> — Rare Disease Day (@rarediseaseday) [February 15, 2021](https://twitter.com/rarediseaseday/status/1361240027255234560?ref_src=twsrc%5Etfw)

Stay up to date with our Patient Advocacy and Engagement news<https://genomics.congenica.com/patient_advocacy_updates>

## Wednesday 17 February 2021

We start our build up to Rare Disease Day 2021 today with Charles Steward (PhD) chatting to Chris Wigley on Genomics England's [G Word podcast](https://genomicsengland.podbean.com/e/charlie-steward/), talking all things genomics.

> "*I would like genomics to be more spoken about. There's still a concern that genomics is going to be used to get rid of certain types of disorders, but it has an enormous potential to make everyone's lives better. Understanding genomics is a really important thing.*"

Listen to the latest episode of The G Word podcast below:

> In today's episode of The G Word [#podcast](https://twitter.com/hashtag/podcast?src=hash&ref_src=twsrc%5Etfw), our CEO [@chris\_wigley](https://twitter.com/chris_wigley?ref_src=twsrc%5Etfw) chats to [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) of our [#Participant](https://twitter.com/hashtag/Participant?src=hash&ref_src=twsrc%5Etfw) Panel, who brings a unique perspective as a genomic scientist [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) and a parent and carer of children with [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw) & [#disabilities](https://twitter.com/hashtag/disabilities?src=hash&ref_src=twsrc%5Etfw).[https://t.co/v6jXpZi4JY](https://t.co/v6jXpZi4JY)
> 
> — Genomics England (@GenomicsEngland) [February 17, 2021](https://twitter.com/GenomicsEngland/status/1361996343703703554?ref_src=twsrc%5Etfw)

 

 

> Huge thanks to [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) for sharing his personal and scientific [#genomics](https://twitter.com/hashtag/genomics?src=hash&ref_src=twsrc%5Etfw) journey with me on the G Word.
> 
> Trying to help these human stories have more happy endings are why we get out of bed in the morning.
> 
> Have a listen here: [https://t.co/MrqlRdnVYL](https://t.co/MrqlRdnVYL) [https://t.co/a8IFNeflnx](https://t.co/a8IFNeflnx)
> 
> — @chris\_wigley (@chris\_wigley) [February 17, 2021](https://twitter.com/chris_wigley/status/1362011282182930438?ref_src=twsrc%5Etfw)

 

> Phenomenal interview here. So powerful to hear [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) 's professional and personal experiences intertwining. Some great suggestions to make life easier for disabled people and their families, too. Well worth a listen! 📣 [@NHSgms](https://twitter.com/NHSgms?ref_src=twsrc%5Etfw) [@DHSCgovuk](https://twitter.com/DHSCgovuk?ref_src=twsrc%5Etfw) [@GeneticAll\_UK](https://twitter.com/GeneticAll_UK?ref_src=twsrc%5Etfw) [@Helen\_Whately](https://twitter.com/Helen_Whately?ref_src=twsrc%5Etfw) [https://t.co/byEk2mHgEN](https://t.co/byEk2mHgEN)
> 
> — Jillian Hastings Ward (@HastingsJ123) [February 17, 2021](https://twitter.com/HastingsJ123/status/1362035012867133441?ref_src=twsrc%5Etfw)

 

> Excellent [@GenomicsEngland](https://twitter.com/GenomicsEngland?ref_src=twsrc%5Etfw) podcast featuring [@chris\_wigley](https://twitter.com/chris_wigley?ref_src=twsrc%5Etfw) and [@charlesasteward](https://twitter.com/charlesasteward?ref_src=twsrc%5Etfw) from [@Congenica](https://twitter.com/Congenica?ref_src=twsrc%5Etfw) discussing how [#genomicmedicine](https://twitter.com/hashtag/genomicmedicine?src=hash&ref_src=twsrc%5Etfw) can help individuals & families affected by rare genetic diseases. [#raredisease](https://twitter.com/hashtag/raredisease?src=hash&ref_src=twsrc%5Etfw) [#RareDiseaseDay2021](https://twitter.com/hashtag/RareDiseaseDay2021?src=hash&ref_src=twsrc%5Etfw) [@rarediseaseday](https://twitter.com/rarediseaseday?ref_src=twsrc%5Etfw) [https://t.co/TBUaaACUTF](https://t.co/TBUaaACUTF)
> 
> — Matt Wilkinson (@Matt\_\_\_W) [February 18, 2021](https://twitter.com/Matt___W/status/1362439481694031879?ref_src=twsrc%5Etfw)

## What is Rare Disease Day?

Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

In the run-up to Rare Disease Day 2021 (28 February 2021), we will be compiling thoughts, news and opinions on the future of rare disease diagnostics right here on this page.

Share this page with your network using the below links to help raise awareness **#RAREDISEASEDAY**

 

[View full post](https://blog.congenica.com/rare-disease-day-2021-live-blog)

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