Curedlg4

We are a small non-profit whose central goal is to support the research and development of treatments, therapies, and support systems for individuals with DLG4

[Effie Parks @OnceUponAGene]

Parents, if your child is showing signs of global developmental delay, seizures, hypotonia, spasticity, feeding difficulties, missed milestones, or microcephaly, don’t let the system waste your time.

Doctors often want to start with an MRI and delay genetic testing - but that approach can cost you valuable time, better treatment options and community.

Advocate for a Whole Exome Sequencing test first. Request the WES immediately, and while you’re waiting for the results, go ahead and schedule the MRI. The MRI is important, but it won’t give you the genetic answers you need to guide your child’s care and future treatments.

Request a WES - Nothing Less

[Curedlg4 @curedlg4]

We’re joining forces and unifying the effort! The DLG4 Research Fund and the SHINE Syndrome Foundation have agreed to come together under the SHINE Syndrome Foundation umbrella.

[Curedlg4 @curedlg4]

Our deepest gratitude to all who contributed to making this past year a success for our foundation. #curedlg4 #raregeneticdisease

[Curedlg4 @curedlg4]

Interview with Dr Alysson Muotri, PhD, UC San Diego, DLG4 Research Fund ... https://t.co/L7Dx30LBgm via @YouTube

[Curedlg4 @curedlg4]

We are so excited to read about DLG4 in this preprint. Exciting times ahead for our gene!!

[Ben Prosser @Prosser_Lab]

Our preprint on PTBP, alternative splicing, and ASOs for @cureSYNGAP1 is now out @NatureComms!

https://t.co/WHhYOfAJaB

🧵1/3

[Curedlg4 @curedlg4]

@phalliburton We live right across and I forced my hubby to go an hour before. I am still shaking and pissed

[The Notorious EEG (M. Scott Perry MD) @TheNotoriousEEG]

The following are some high yield reasons to get #genetic testing if imaging or history/exam has not declared the reason for #epilepsy :
✅ neonatal onset epilepsy
✅ epilepsy onset <3y
✅ drug resistant epilepsy
✅ #CerebralPalsy and epilepsy with normal MRI
✅ epilepsy and ID

[Curedlg4 @curedlg4]

Finger’s crossed this will be our gene in a few short years

[Boston Children's @BostonChildrens]

Conner Hess is the first kid in the world to receive an FDA approved gene therapy for CALD - a rare genetic condition that causes neurological devastation. And it happened here at Boston Children's 💙 Learn more ⬇️ @BostonGlobe https://t.co/u3yBD4HHCc

[Boston Children's @BostonChildrens]

Conner Hess is the first kid in the world to receive an FDA approved gene therapy for CALD - a rare genetic condition that causes neurological devastation. And it happened here at Boston Children's 💙 Learn more ⬇️ @BostonGlobe https://t.co/u3yBD4HHCc

[The Notorious EEG (M. Scott Perry MD) @TheNotoriousEEG]

Great way to start the day in our new - but temporary - clinic space! Always fun to work with patients and caregivers engaged in advancing the science and making it possible for me to have answers and treatments for #raredisease.

[Curedlg4 @curedlg4]

Always a good tome visiting @TheNotoriousEEG at @CookChildrens We talked about the research being pushed forward and the need to do a Natural History Study to get clinical trials ready when we have proof of concept for our AAV9 Gene Therapy to @curedlg4

[Curedlg4 @curedlg4]

Want to hear about Dr Muotri's research pan for Gene Therapy at the Muotri Lab? Click below: https://t.co/L7Dx30LBgm via @YouTube

[Curedlg4 @curedlg4]

How is your family representing #RareDiseaseDay2023 #rarediseaseawareness #RareDiseases #RareDiseasesDay #ShowYourStripes #curedlg4 #careaboutrare

[Curedlg4 @curedlg4]

@FiladelfiaGene1 @Kassabian_B @SHINESyndrome @ZeynepTumer_DK @caterina_ancora @Sebasortizdelar @sskkmm2022 @sopio_gverd @Vivian_WY_Liao @NazaninAzarine1 @Katrine92658231 @AllanBayat @FrancescaFuria_ Can’t wait! We are excited to read the published papers!

[Curedlg4 @curedlg4]

Working on it @JMGraglia for #dlg4

[Mike Graglia 🌻 @JMGraglia]

Can't go fast enough @FDACBER! We need #genetherapy to @cureSYNGAP1, @curestxbp1, @curedlg4, @CureSHANK & that's just the synapse.

This is good news for @lab_davidson, @Prosser_Lab, @StokeTx, @EncodedTx, @REGENXBIO, @navneetkmatharu & more!
#SYNGAP1 🧬

https://t.co/g0l2RetfRm

[Curedlg4 @curedlg4]

Same applies to #itsnotautism #itsnotepilepsy Get Genetic testing? Preferably full GENOME PANEL testing. It is way more affordable than what doctors are telling you.

[Effie Parks @OnceUponAGene]

I cried when Billie contacted me yesterday to be the first to know.
Boom!!! #ItsNotCP
#GeneticTesting
They can now have exact community, contribute to research and so much more.
https://t.co/9pU4MgjQNV

[Curedlg4 @curedlg4]

#ShineYourSearchlight✨ Not enough is known about DLG4-Synaptopathy. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to https://t.co/iAvwUZb3fU to sign up for FREE! #DLG4

[Curedlg4 @curedlg4]

So incredibly proud of @cureSYNGAP1 and thank you for bringing rare genetic disease awareness to main stream media.

[CURE SYNGAP1 aka SynGAP Research Fund 501(C)(3) @cureSYNGAP1]

Read & share this @Newsweek story profiling SRF, our founders (@SYNGAP1mom & @JMGraglia) and Tony's diagnostic journey.

https://t.co/eyWvSifnaL

FYI @StanfordChild @IDreamofGenes @Invitae @Labcorp (MNG)

[Curedlg4 @curedlg4]

Happy MLK day from DLG4 Research Fund! https://t.co/J43pvKZdVp

[Jill Hawkins @fam177a1mamma]

Great article featuring three of my #raredisease idols and mentors! @OnceUponAGene @casiomac @JMGraglia @cureSYNGAP1 @SYNGAP1mom

Rare Parents Tackling Rare Diseases https://t.co/GVglPQHuQM via @clinicalomics