The average rare disease diagnostic journey takes 6.5 years. Jack’s took 15 years-now babies get a Smith-Kingsmore syndrome diagnosis. Smith-Kingsmore Syndrome Foundation works for awareness & funding research to give SKS families hope #RDDNIH #smithkingsmoresyndrome #rarediseaseday2023 #RareAsOne
Tania Simoncelli Katie Couric David Fajgenbaum, MD Brian Wallach Sandra Abrevaya SHE Media Absolutely inspiring! Katie, you were the perfect moderator! #rarediseases #SXSW Katie Couric David Fajgenbaum, MD Brian Wallach Sandra Abrevaya #rareasone SHE Media
It’s Rare Disease Day! These Champs are all one in a million, but they don’t need a disease to make them so special! #RareDiseaseDay #RareAsOne
What an honor it was to talk with these incredible leaders about the extraordinary ways that patients are driving progress against #rarediseases at #SXSW ! Huge thx Katie Couric David Fajgenbaum, MD Brian Wallach Sandra Abrevaya! #rareasone SHE Media
Where in the world is #LaforaDisease ?
32 countries! Don't see your country on the map? Let us know! We'll connect you with the registry.
#ChelseasHope LaforaCure #RareDisease Awareness #ChelseasHope #RareDisease #PatientCommunity #RareAsOne #FightLafora #RareFamilies
I can't possibly fit all the words of gratitude I have for Chan Zuckerberg Initiative and CZI Science into a tweet. The #RareDisease community is a force to be reckoned with, and with the generous funds and resources from the #RareAsOne network, the sky is the limit. Thank you!
Cure HHT
📢 It's #WorldPurpleDay ! Today, we challenged you to wear something purple and share about #LaforaDisease on your accounts. Thank you for raising awareness! 💜
#PurpleDay #EpilepsyAwareness #ChelseasHope #RareDisease #PatientCommunity #RareAsOne #FightLafora #RareFamilies
“This has been the privilege of a lifetime.”
CZI’s Tania Simoncelli talks with @KatieCouric about #RareDisease + her experience working with our #RareAsOne grantees
I had a great time last night at the screening of No Ordinary Campaign and hearing from #RareAsOne grantees. Collaboration between patient communities and scientists is essential in accelerating research, and I’m inspired by the progress these groups have made against their diseases.
In case #rarediseaseday is gonna be busy for you tomorrow, here’s the whole documentary in fifteen seconds.
Watch the full thing, here: youtu.be/Hl5ccLNwfbU #rareasone #showyourstripes #careaboutrare #rarediseases #iamrare
So full of gratitude for Chan Zuckerberg Initiative CZI Science #RareAsOne and the work of this amazing group of #advocates . We are changing the world of #RareDisease together! #Epilepsy #LennoxGastautSyndrome #OurRareFamily
Starting now, the CZI Science #RareAsOne meeting! And we open with a BANG: w/ a warm welcome by Priscilla Chan, who's shown unwavering support for this wonderful program that supports incredible #raredisease orgs to build powerful communities & research networks. #patientpower
#SCN2A Day is Feb 24!
#RareDiseaseDay is Feb 28!
#SCN2A related disorders is just one of approximately 1,000 rare diseases. Alone we are rare. Together we are strong. #RareAsOne
#ShowYourStripes
#cureSCN2A
A special issue on Rare disease research in India is being published by JBioSc (free to access) @iascbng. See the TOC. This is an imp step for the Indian patient & research community. #RareDisease
Launch symposium on the 28 Feb
youtube.com/live/y-IT9fiw7…
#RareAsOne #jbsc
A huge THANK YOU to Garabet Yeretssian from CZI Science for giving an excellent seminar this week for Medical Sciences MSc in Genomic Medicine on #SingleCell #RareAsOne Kennedy Institute of Rheumatology!! #RareDiseaseMonth #KIRClinPath #KIRDataSci
Our TANGO2 Research Foundation team is at the Chan Zuckerberg Initiative Science in Society conference learning, connecting, collaborating and sharing. #rareasone
Thank you CZI Science #RareAsOne for highlighting us on #RareDiseaseDay2023 at The Broad! Your support has helped us get closer to a world without pancreatitis. Julie Raskin Tania Simoncelli
The 2nd European #SCN2A & #SCN8A Conference & Family Gathering has begun!
The famous Markus Wolff started out the morning discussing monogenic epilepsies.
#StrongerTogether
#RareAsOne
