I was honored to be an invited speaker at #RareDiseaseDay2025, but unfortunately the event was canceled due to ongoing issues within the agencies.
Part of having a #RareDisease and being a scientist means adapting to challenges and being resilient, so I've recorded my talk for the public.
Part of having a #RareDisease and being a scientist means adapting to challenges and being resilient, so I've recorded my talk for the public.
May 19, 2025 at 6:35 PM
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📣 #EAHAD and European Haemophilia Consortium are coming together for a follow-up webinar in the #ERIN series, dedicated to extremely rare bleeding disorders and part of the ongoing #RareDiseaseDay2025 programme.
📅 Join us on 10 June at 18:00 CEST!
🔗 Register now: ow.ly/VazN50VIE2M
📅 Join us on 10 June at 18:00 CEST!
🔗 Register now: ow.ly/VazN50VIE2M
Addressing the Needs of People with Extremely Rare Bleeding Disorders • EHC Community
Organised in collaboration with EAHAD, this webinar continues the EHC European Rare and Inhibitor Network's commitment to fostering dialogue between healthcare professionals and the patient community.
ow.ly
April 30, 2025 at 2:50 PM
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Did you miss #RareDiseaseDay2025 at @europarl.europa.eu? Our CEO, @avrilbdaly.bsky.social, President @eurordis.bsky.social, called for an EU Action Plan for Rare Diseases; faster diagnoses, better treatments & holistic support.
Watch/listen back to Avril here: shorturl.at/wsEkw
#RareDiseases #EU
Watch/listen back to Avril here: shorturl.at/wsEkw
#RareDiseases #EU
March 24, 2025 at 1:27 PM
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Attended the inspiring #RareDiseaseDay2025 reception hosted by Genetic Alliance UK.
Honoured to explore the exhibitions highlighting powerful stories from those living with rare diseases.
With over 400,000 Scots living with rare conditions, we must continue advocating for better care.
Honoured to explore the exhibitions highlighting powerful stories from those living with rare diseases.
With over 400,000 Scots living with rare conditions, we must continue advocating for better care.
March 19, 2025 at 1:26 PM
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Thank you for a tremendous #RareDiseaseDay2025! 💙🦓
You sent 7,000 letters to representatives, enrolled by the hundreds in the #LivingRareStudy, and helped raise over $90,000 for #NORD!
Read our full #RareDiseaseDay recap of our favorite moments here: rarediseases.org/highlights-f...
You sent 7,000 letters to representatives, enrolled by the hundreds in the #LivingRareStudy, and helped raise over $90,000 for #NORD!
Read our full #RareDiseaseDay recap of our favorite moments here: rarediseases.org/highlights-f...
March 13, 2025 at 3:52 PM
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Thank you to our sponsors for making our #RareDiseaseDay2025 symposium a huge success!
28 speakers sharing groundbreaking research
44 posters presenting cutting-edge science
31 rare disease foundations represented
260 attendees driving collaboration
Photos + recap: bit.ly/41J3zkd
28 speakers sharing groundbreaking research
44 posters presenting cutting-edge science
31 rare disease foundations represented
260 attendees driving collaboration
Photos + recap: bit.ly/41J3zkd
March 8, 2025 at 12:22 AM
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March 6, 2025 at 9:02 PM
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If you missed the excitement on #RareDiseaseDay, here’s the scoop! We were proud to be part of Mediaplanet’s #RareDiseaseDay2025 campaign, a fantastic opportunity to raise awareness and spark important conversations on rare diseases.
Read all about it! 🔗www.healthnews.ie/ra...
Read all about it! 🔗www.healthnews.ie/ra...
Building blocks for rare disease clinical trials
Clinical trials offer the possibility of life-changing new therapies. However, numerous factors make trials for rare diseases more difficult to do than those targeting larger groups.
www.healthnews.ie
March 6, 2025 at 10:25 AM
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"To me, ventilation is more than you can possibly imagine. And that’s where Cripping Breath comes in!" Read our latest blog post now
www.sheffield.ac.uk/cripping-bre...
#RareDiseaseDay2025 @mdukcharity.bsky.social
www.sheffield.ac.uk/cripping-bre...
#RareDiseaseDay2025 @mdukcharity.bsky.social
Blog post #3 Ventilation – it’s more than you can imagine?
By Suzanne Glover, Lead Community Researcher
www.sheffield.ac.uk
March 3, 2025 at 3:29 PM
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March 3, 2025 at 9:57 AM
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It's day 4 & we're only $6 from our #RareDiseaseDay2025 fundraiser goal! So many amazing people donated and raised #awareness! We've started the day on The Dingus Den and will move to RSR afterwards!
#Donate! tinyurl.com/3umnwfpm
youtube.com/live/4cM9R3Y...
youtube.com/live/jaEjRaN...
#Donate! tinyurl.com/3umnwfpm
youtube.com/live/4cM9R3Y...
youtube.com/live/jaEjRaN...
Rare Disease Day 2025 | Streamlabs Charity
Donate now! We are once again raising money for FMF & AID Global Association; the org Red Shirt Chris works with. Feb 28 is Rare Disease Day. Chris has a rare disease, Familial Mediterranean Fever (FM...
tinyurl.com
March 2, 2025 at 6:50 PM
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We are over $1000 and moving to a new link for our #RareDiseaseDay2025 Day 3 #stream because of @YouTube VOD rules. Come hang out and #donate if you have not and definitely #share the links! Let's raise more money for @FMFandAID!!
streamlabscharity.com/@redshirtsre...
youtube.com/live/znZA9Iz...
streamlabscharity.com/@redshirtsre...
youtube.com/live/znZA9Iz...
March 2, 2025 at 2:42 AM
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#RareDiseaseDay #RareDiseaseDay2025 #RDD2025. Recurrent FSGS #rFSGS is a ultrarare disease. We recently had a conference and we are building a community. Stay tuned for new updates, events, research opportunities.
@rfsgsinitiative.bsky.social @gbadegesinlab.bsky.social @alessiafornoni.bsky.social
@rfsgsinitiative.bsky.social @gbadegesinlab.bsky.social @alessiafornoni.bsky.social
March 1, 2025 at 6:27 PM
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Thank you to everyone who came to #ShowYourStripes #NewMexico #UniversityofNewMexico #NewMexico #Raredisease #Rarediseaseday #rarediseaseday2025 #ABQ #NM #UNM
Check out more images from the event on our Instagram account @ newmexicoraredisease.
Check out more images from the event on our Instagram account @ newmexicoraredisease.
March 1, 2025 at 3:59 PM
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Thank you to everyone who came to #ShowYourStripes #NewMexico #UniversityofNewMexico #NewMexico #Raredisease #Rarediseaseday #rarediseaseday2025 #ABQ #NM #UNM
March 1, 2025 at 3:17 PM
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Kallmann syndrome is a rare genetic hormonal condition that affects puberty & fertility. Associated with a lack of sense of smell.
www.tiktok.com/@neilsmith38...
#rarediseaseday #rarediseaseday2025 #kallmann #puberty #hypogonadism #hypogonadotropic #hormone #infertility #anosmia #endocrinology
www.tiktok.com/@neilsmith38...
#rarediseaseday #rarediseaseday2025 #kallmann #puberty #hypogonadism #hypogonadotropic #hormone #infertility #anosmia #endocrinology
There is perhaps a reason I do not put myself in these videos often but I do like talking about Kallmann syndrome to help raise awareness of the condition. Kallmann syndrome is a rare genetic hormonal...
TikTok video by Neil Smith
www.tiktok.com
March 1, 2025 at 9:18 AM
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Really enjoyed the inaugural Rare Disease Day event at @UHW_Waterford The first hospital in Ireland to hold such an event to mark such an important day 🙌🦓🎉
It was a truly inspiring event that sparked many conversations on the potential going forward.
#RareDiseaseDay2025
It was a truly inspiring event that sparked many conversations on the potential going forward.
#RareDiseaseDay2025
March 1, 2025 at 7:29 AM
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Imagine having a #RareDisease. Imagine having one as a #HealthcareWorker. That's the journey Gaby is on & she shared her story yesterday on #RareDiseaseDay2025 which is always on the last day of #Febraury. We're still #fundraising so #Donate to FMF & AID Global Assoc!
www.youtube.com/watch?v=sjn_...
www.youtube.com/watch?v=sjn_...
March 1, 2025 at 6:50 AM
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#RareIsNotRare when there is community!
Despite postponement of 2025 FDA-NIH #RareDiseaseDay remember there is power in representation.
&
Let’s use facts as fuel.
udnf.org/udnf-stateme...
www.fda.gov/news-events/...
#RareDiseaseDay2025 #UltraRare #UndiagnosedDisease #OrphanDisease
Despite postponement of 2025 FDA-NIH #RareDiseaseDay remember there is power in representation.
&
Let’s use facts as fuel.
udnf.org/udnf-stateme...
www.fda.gov/news-events/...
#RareDiseaseDay2025 #UltraRare #UndiagnosedDisease #OrphanDisease
March 1, 2025 at 6:48 AM
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I don't usually share my family, so excuse the scratched face - but for #RareDiseaseDay2025 I wanted to introduce K, who has Childhood Interstitial Lung Disease, as well as several more complex diagnoses. Healthcare in the USA is under threat. He deserves a full life. Please, keep fighting.
March 1, 2025 at 4:43 AM
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The @wfhemophilia #nurses committee would be very grateful for participation in this global tattoo survey for people living with #bleedingdisorders please share too. Thank you #RareDiseaseDay2025 forms.office.com/e/p97n65AExs
March 1, 2025 at 4:42 AM
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It’s #RareDiseaseDay2025. Jess has Tuberous Sclerosis Complex. We’d be lost without Medicaid and Medicare. She can’t help her genetics. She has suffered from epilepsy since she was 5 months old. Nearly organ system in her body is affected. Brain, lungs, liver, kidneys, skin, heart, etc.
March 1, 2025 at 4:08 AM
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Today is
#RareDiseaseDay2025
This is horrific!
1:10 babies is born with a rare disease.
I was born with a 1:1M rare disease. it’s a wonder I’m alive as an adult. I live with more than one rare disease too. 
Recipients of SSD mustn’t have any interruption at SS. This can cost lives!
#RareDiseaseDay2025
This is horrific!
1:10 babies is born with a rare disease.
I was born with a 1:1M rare disease. it’s a wonder I’m alive as an adult. I live with more than one rare disease too. 
Recipients of SSD mustn’t have any interruption at SS. This can cost lives!
March 1, 2025 at 2:24 AM
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1 reposts
1 likes