Elli Brimble

SRF announces $130k collaborative grant to the Tang Lab @BostonChildrens & @Axonis_US to see if a #KCC2 enhancing drug will ameliorate #SYNGAP1. Also quoted: @SVH_neuro, @KadamLab & @JMGraglia. This is possible due to the generosity of our families. eurekalert.org/news-releases/…

So INSPIRED every day by these amazing #patients, the #research they drive, the #collaboration they initiate, and the #hope they bring to their communities! #RareAsOne @KIF1A @TESSResearch

Come learn how digital natural history studies and medication comparative effectiveness can improve care for patients with SYNGAP1. @IngoHelbig @JulieXXian @CHOP_Research @CHOPDBHi @ChildrensPhila @ciitizen

@IngoHelbig @KimThalwitzer @JMagielski @JulieXXian @SarahRuggieroGC @JillianLMcKee @DLSneurocyclist @Dr_Rhys @DrDaniAndrade @TheNotoriousEEG @SWeckhuysen @FiladelfiaGene1 @ciitizen @Invitae !!! This is AMAZING !!!

...here is a brief preview of the phenotypic spectrum of #CHD2 in the #Ciitizen dataset ...this is based on >97,000 phenotypic annotations across more than 330 patient years. ...generated in record time by @KimThalwitzer @JMagielski @JulieXXian @SarahRuggieroGC @JillianLMcKee

...the final countdown for our #CHD2 hackathon ...we took the challenge to analyze @ciitizen data in a time frame of 4 weeks ...here is quick sneak peek... @curechd2 @SWeckhuysen @FiladelfiaGene1

@OnceUponAGene @SimplyKristyD @HITeaWithGrace @techguy @RareDiseaseDad 💕

Update: ☑️Kids for to school ☑️I got a haircut ☑️ I packed ☑️Neuro was a succes- adjusted some #dystonia & #seizure meds and got an MRI ordered. ☑️ Got to the airport earlier than expected ☑️Had some important reminders from friends. *Remember who you are" #Hitmc

ATTN Rare Disease Peeps: I have some amazing news!!!! Our amazing friends at @H4B have offered to sponsor this program. Our BTD kids will be on a Jumbotron in Times Square for the ENTIRE MONTH of February, running most of the day!!!!! #RareInTimesSquare #RareDiseaseDay

Read & share this @Newsweek story profiling SRF, our founders (@SYNGAP1mom & @JMGraglia) and Tony's diagnostic journey. newsweek.com/my-son-syngap1… FYI @StanfordChild @IDreamofGenes @Invitae @Labcorp (MNG)

Chat GPT does it again... #ionchannels Oh sodium channels, so small and discrete Yet your role in our nerves, oh how complete You open and close with such precise control Allowing impulses to flow, like a river on a roll (1/2)

...the clock is ticking for our #CHD2 Seminar I just wanted to give a shout-out to Elli Brimble @IDreamofGenes and Nasha Fitter @nashafitter1 for delivering EMR data that we are going to analyze in record speed. @ciitizen @curechd2 @JulieXXian @JillianLMcKee @SarahRuggieroGC

@IngoHelbig ending on the topic of Natural History Studies... Starting with #STXBP1 and expanding to #SYNGAP1, #CHD2, #SCN8A, and others in the near future.

Join us on 2/2 (also our International CHD2 Awareness Day), for a presentation by Dr. Ingo Helbig from CHOP. He will share some findings from our CHD2 digital natural history study with Ciitizen/Invitae. @IngoHelbig Register here: curechd2.org/webinars

Thank you @DNATodayPodcast for helping us to raise #SYNGAP1 🧬 awareness to the critical audience of #GeneticCounselors with our very own SAB-level GC @IDreamofGenes & our co-founder @JMGraglia. With so many patients still to find and GCs are critical! dnapodcast.com/episodes/2022/…

Infantile spasms most often occur between 4 and 6 months of age but can begin anytime in the first 2 years. Know the signs to look for in your baby: buff.ly/31q3zJ4 #ISAW2022 #epilepsy #seizures #EpilepsyAwareness

Inspiring to hear from @ConeckerGabi and @DEE_Pconnection about the #InchstoneProject, a collaborative effort to better represent the progress achieved by individuals with #DEEs in preparation for clinical trials. #AES2022

What a treat to hear @julietkknowles describe her discovery of generalized epilepsy-associated maladaptive myelination. This work was reported earlier this year in Nature Neuroscience 🧠. #AES2022

Exquisite science from @shridparth and @IngoHelbig identifies a recurrent #DNM1 variant in the non-canonical transcript, with implications for clinical genetic testing and reporting. Another highly impactful collaboration between researchers and families.

#ciitizen takes #AES2022!!!

Who knew the hottest spot in town was the #DEE SIG meeting! Although I’m sad I can’t get in, happy to know #RareEpilepsies are attracting broader audiences #AES2022

What a privilege to hear from @JMGraglia representing @cureSYNGAP1 at #AES2022. Patient advocacy groups are powerful allies in #Rare research and drug development. It’s an honour to know you, friend!

@TheNotoriousEEG @AmEpilepsySoc This is… amazing

Hey @AmEpilepsySoc, I’m here! 🤠😉 #AES2022 #Nashville