Today is World Congenital Disorders of #Glycosylation Awareness Day #WorldCDGDay
To raise awareness & celebrate our wonderful community - we put together a report on SRD5A3-CDG & the ongoing research at Cure SRD5A3!
Read it here
https://t.co/beFD6jpLhQ
#StandUnited4CDG
@Mom2EmAndTy Laura, I am so very sorry for your loss. Emily was such a bright light I will always remember her laughter, hugs and wonderful spirit. Sending you and your family love during this difficult time
My first Grace Science #NGLY1 conference! Continuously inspired by such an amazing team of researchers and leaders working together to cure NGLY1 Deficiency. #raredisease
The lineup for our 6th #NGLY1 conference. A fabulous roster of world-class researchers & scientific advisors. Thank you, @amicusrx1, @AudentesTx, BridgeBio & Ultragenyx, for your sponsorship that helped bring this talented group together. #collaboration#RareDisease
Inspiring profile of #NGLY1 super-advocate @mattmight and all that he’s done for his family, the #NGLY1 community, and the rare community writ large.
https://t.co/VofGJZpPSz
A day of great talks at the Rare International Dialogue Conference! @scienceoframen and I will be giving a talk on “Using CRISPR to Unravel Gene Networks in Rare Disorders” tmrw at 10:30 (stream 2) #Raredialogue2019
Happy #RareDiseaseDay to all rare disease patients, families, clinicians & scientists! Can't think of a more meaningful tribute than Emily & family visiting the GSF team at the U of Toronto. Our global team connects families, scientists, & families w/ scientists. #NGLY1
Today is #RareDiseaseDay and it’s time for us to think about new strategies for making rare diseases a priority in Canada.
“It’s time for us to rethink what the medical profession considers a rare disease” - co-authored with @IStedman & @scienceoframen
https://t.co/KbnLmI6pj4