A NonProfit dedicated to the three major Creatine Deficiency Syndromes- AGAT, GAMT, and CTD
Carlsbad, CA
Joined September 2014
- Tweets1.8K
- Following125
- Followers375
- Likes293
Creatine Info retweeted
Thank you @people for shining a light on rare diseases like @CreatineInfo.
Beast Games Winner Made History with $10 Million Prize. How He's Using the Money to Help with His Son's Rare Disease (Exclusive) people.com/beast-games-winne…
Creatine Info retweeted
Heidi Wallis (@creatineinfo) becomes completely obsessed with trying to fix her daughter. Don't miss her story on this week's podcast sponsored by @czi Rare As One for #RareDiseaseMonth! ow.ly/A6zX50QGS5u
#RareDiseaseAwareness
Creatine Info retweeted
Being part of @cziscience #Rareasone network is a huge boost for our efforts to get more research and eventually treatments for Creatine deficiencies @CreatineInfo. We’ve grown so much in two years and this is only the beginning! Thanks RAO family! #StrongerTogether
Creatine Info retweeted
It’s awesome to see more research in #slc6a8 happening. @DrShmouni is an amazing researcher and his engagement with our @CreatineInfo community is outstanding! This is patient centered research at its best.
Our new data @GIMJournal show that patients and mouse models of X-linked creatine transporter deficiency have ⬆️risk for prolonged QTc and sudden death risk. Check EKG, echo etc and avoid QTc prolonging medications. @NICHD_NIH @NIH @CreatineInfo @auract
rdcu.be/clvb3
Creatine Info retweeted
ICYMI: Dr. Brian Jackson interviews Drs. Marzia Pasquali and Nicola Longo, ARUP, experts on GAMT deficiency. Listen now to learn more about their efforts to diagnose, treat, and advocate for patients with this rare condition.
bit.ly/3u5Axak
Creatine Info retweeted
X-linked creatine transporter deficiency is a fascinating inherited metabolic disorder. We report the first phosphorus MRS study; both phosphocreatine and total creatine concentrations were found to be
markedly reduced @auract @CreatineInfo
onlinelibrary.wiley.com/doi/…
Creatine Info retweeted
Wrapping up the day 1 of the #RareAsOne network meeting hosted by @cziscience. There's a lot of diversity in the orgs, and a lot more things that are common. A lot to learn for our @CreatineInfo conditions (AGAT, GAMT, and Creatine Transporter Deficiency). Here's a stellar cohort
Creatine Info retweeted
BREAKING NEWS: NORD has launched the #COVID19 Premium and Limited Medical Relief Program to assist eligible #raredisease patients facing financial challenges w/ out of pocket costs of health insurance premiums and limited medical assistance. Read more: bit.ly/35QjrTB
Creatine Info retweeted
We’re meeting virtually with patient leaders who are accelerating research on #RareDisease in hopes of developing therapies and cures. Learn about the 30 patient-led organizations that are part of the #RareAsOne Network czi.co/RareAsOneNetwork
Creatine Info retweeted
We’re excited to announce 30 grantees to our #RareAsOne Network. These patient-led organizations are partnering with clinicians and researchers to accelerate research for their #RareDisease czi.co/RareAsOneNetwork
Creatine Info retweeted
Chartered in ‘03, the #ACHDNC provides guidance to the @HHSGov on ways to improve the nation’s #NewbornScreening system to save more lives. The ACHDNC’s leadership is essential. Sign our petition to urge @SecAzar to restart this committee: tinyurl.com/v8cu3h9
Creatine Info retweeted
We’re starting a series called Science Explained for our #creatine deficiency (#CCDS) parent community. The fabulous @erincoller wrote the 1st article with a q&a on #pharmacochaperoning and the potential for rescuing misfolded #SLC6a8 transporters.
Check out “Science Explained: Pharmacochaperoning & CTD Research Participation,” Written by ACD Ambassador, Erin Coller. ACD asked Dr. Sucic to help us understand more about pharmacochaperoning and her work in the following blog post: creatineinfo.org/pharmacocha….
#ACD #CCDS
Creatine Info retweeted
Breaking News: The House of Representatives just voted on a 2020 spending pckge that will provide much needed & sustained funding for @NIH & @US_FDA to support the critical work that benefits the #raredisease community! Now it's onto the Senate! Stay tuned for updates #rareaction
Creatine Info retweeted
At the @GlobalGenes conference, we met Paige & Kim Tuminello of @CreatineInfo and the winners of our raffled digital camera. Check out our blog post to learn more about their work & why building relationships like this one are so important to us at Premier bit.ly/2QJwvVk
Creatine Info retweeted
As parents of kiddos w rare diseases I feel we’re all musketeers: One for all and all for one. Kim Tuminello is like the Athos of our team, an inspiration and a power to behold. we’re all #rareasone
Kim Tuminello, ACD Director of Advocacy, was recently interviewed by the @GlobalGenes RARE Daily, an innovative online news magazine. Read her featured Rare Leader interview now, at globalgenes.org/2019/11/14/r…!
#ACD #CCDS #CCDSlife
Creatine Info retweeted
Some very impactful thoughts from today’s “Challenge Your Limits” closing session: What makes a rare disease impactful? No one’s disease is more or less impactful and that’s what brings us all together. @2DDPodcast #2019GGSummit @creatineinfo
Creatine Info retweeted
@CreatineInfo we’re so grateful that the NIGMS repository is deeply supportive of the rare disease community! Open science needs accessible biosamples. Thanks @Coriell_Science and thanks to the families in our community donating samples! #creatinedeficiency
Creatine Info retweeted
Rare disease folks, who’s excited about the Rare as One @cziscience LOI deadline tomorrow? It felt great to synthesize all the work @CreatineInfo puts into research and to define the really cool projects we want to do next. #RareDisease #CCDS #RareAsOne #Creatine
Creatine Info retweeted
"What is patient experience? Anything a patient says or does. So the challenge is, how do we turn that data into something meaningful that can drive research?" Laura Trutoiu, PhD of @CreatineInfo #DIA2019
Creatine Info retweeted
I stopped by @FridayTea and I found out from the amazing Friday herself that there’s a blog post I missed on how Rohan’s Research Blend for @CreatineInfo came to be fridaytea.com/blogs/news/btb… it’s a sweet and spot on description of Rohan.