Cure SRD5A3

SRD5A3 is a rare congenital disorder of #glycosylation. Our mission is to develop life altering therapies & advance research on this #raredisease.
#cureSRD5A3

[Cure SRD5A3 @CureSrd5a3]

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

[Ethan Perlstein 1-to-N @eperlste]

I’ve been saying for a while now that drug repurposing will go 📈

I only know what we’re doing at @PerlaraPBC and have some sense of what @rarebasepbc is seeing, but the dam will break soon.

Here are 3 drug repurposing projects at the doorstep of 1-to-N pioneer studies 👇

[Perlara @PerlaraPBC]

The @SappaniFDN, @CureSrd5a3 and @VJsapps created an Ela worm avatar for drug repurposing in 2019.

After many twists and turns, HMG-CoA reductase emerged as a target that may restore the balance between polyprenol and dolichol. https://t.co/Ls9HURFRHk

[Carlota Pascoal @CarlotaPascoal]

Proud of our most recent publication🎉 a direct result of joining families and professionals in the same room, giving them equal voices to tackle those shared hurdles 🥰
https://t.co/rYDaO6yGeq
@worldCDG @CDG_MDPhD @FrontierCDG @CdgHub @CDGCAREorg

[FCDGC @FrontierCDG]

CDG Awareness Day!

[Cure SRD5A3 @CureSrd5a3]

Happy CDG Awareness Day!

Let's come together to raise awareness & #StandUnited4CDG !

#WorldCDGDay #raredisease #CDGAwareness #CDGGoGreen

[CDG Hub @CdgHub]

CDG Hub has curated resources for CDG patients & families to help them learn about CDG, therapies, clinical studies & connect with other CDG families

Visit the “Resources” page to learn more
https://t.co/LtdXjgYyjy

#CDGHub #WorldCDGDay #glycosylation

[CDG Hub @CdgHub]

Discover researchers who are working to better understand CDG, improve diagnosis and develop new treatments or cures. Find potential collaborators to accelerate discoveries on CDG! Visit the “Researchers” page to learn more!

https://t.co/jRalpaQJti

#CDGHub #WorldCDGDay #CDG

[CDG Hub @CdgHub]

Did you know 170+ types of CDG have been discovered? CDG Hub has educational pages summarizing the current state of knowledge on 30+ CDG types. Visit the “All CDG types” page to learn more!

#CDGHub #WorldCDGDay #glycosylation #CDG

https://t.co/lkPTWM3eo3

[CDG Hub @CdgHub]

CDG Hub maintains a growing list of expert clinicians & centres diagnosing, treating & researching CDG. Search for CDG experts by country & areas of specialty. Visit the “CDG Clinicians & Centres” page to learn more!

https://t.co/oJMyN36tSu

#CDGHub #WorldCDGDay #glycosylation

[Cure SRD5A3 @CureSrd5a3]

Excited to share the launch of the first online knowledge base for congenital disorders of glycosylation - CDG Hub!

#CDGHub #CDG #WorldCDGDay #glycosylation

[CDG Hub @CdgHub]

We are excited to announce the launch of CDG Hub! It’s designed to educate researchers, clinicians, patients and families on CDG. Our goal is to help unite the CDG community, increase public awareness, and inspire collaborative research.

#CDGHub #WorldCDGDay #CDG #glycosylation

[CDG Hub @CdgHub]

CDG Hub will be launching this month!

[World CDG Organization @worldCDG]

#CDGResearch

📣CALL FOR ACTION!📣

Participate in the international study “Prioritizing Symptoms Impacting Quality of Life for CDG” aimed at people living with CDG, families and caregivers.

👉The questionnaire is Anonymous and is open until April 3rd: https://t.co/L5rNnhDIQU

[FCDGC @FrontierCDG]

#FCDGC reveal of new informational video regarding
CDG #ClinicalTrials at the #rarediseaseday #CDG/#NGLY1 Family Conference https://t.co/fS0tlXFJ1p @CDGCAREorg @worldCDG @cdgcanada @AmourFund @MexicoCdg @UK_CDG @cdgsindrome @LesPtitsCDG @rarediseasesnet

[Cure SRD5A3 @CureSrd5a3]

Today on #RareDiseaseDay2022 Cure SRD5A3 celebrates all of the amazing families in our community as we raise awareness on rare diseases and #SRD5A3-#CDG

[Cure SRD5A3 @CureSrd5a3]

#SRD5A3facts Almost 50 SRD5A3-CDG patients have been identified worldwide

#CDGFacts #CDG #glycosylation #RareDiseaseDay2022

[Cure SRD5A3 @CureSrd5a3]

#SRD5A3Facts SRD5A3-CDG belongs to a group of > 160 rare #genetic diseases called congenital disorders of glycosylation (CDG). CDG are caused by defects in #glycosylation - the process of adding sugar chains to proteins and lipids.
#RareDiseaseDay2022
#CDGFacts #SRD5A3-#CDG

[Sappani Foundation @SappaniFDN]

Sappani Foundation and @CureSrd5a3 are pleased to support the research work at @sbpdiscovery and @CDGCAREorg . We also support @cdgcanada on research work in Canada. #RareDisease

[Sanford Burnham Prebys @sbpdiscovery]

To help commemorate this year's annual Rare Disease Day Symposium, we spoke with the Omlers, whose son Damian is the only person in the world with his rare genetic mutation. Read the full story and learn more about the event https://t.co/knOihXMh01

[Sappani Foundation @SappaniFDN]

February 28th is #RareDisease day follow @rarediseaseday for more details. In Canada follow CORD @raredisorders . @CureSrd5a3 @cdgcanada

[Cure SRD5A3 @CureSrd5a3]

We are excited to be attending the Rare Disease Day Symposium in San Diego this year!

[Sanford Burnham Prebys @sbpdiscovery]

Hudson Freeze, Ph.D. has been working on rare genetic disorders for more than 25 years and has worked with more than 300 patients. This weekend, he's back at it for the 2022 Rare Disease Day Symposium. Read more and register for the event https://t.co/uWeIANZ3Is