Elli Brimble

Neurogenetics Counselor now @ciitizen @invitae @foxg1research

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

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.

https://t.co/CmdNY3gDsP

[heidi bjornson @heidibp]

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

[Jillian McKee @JillianLMcKee]

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

[Elli Brimble @IDreamofGenes]

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

[Elli Brimble @IDreamofGenes]

@OnceUponAGene @SimplyKristyD @HITeaWithGrace @techguy @RareDiseaseDad 💕

[Beyond the Diagnosis @BeyondtheDx]

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

[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)

[Al George @nupharm1]

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)

[Ingo Helbig @IngoHelbig]

...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

[Julie Xian @JulieXXian]

@IngoHelbig ending on the topic of Natural History Studies...

Starting with #STXBP1 and expanding to #SYNGAP1, #CHD2, #SCN8A, and others in the near future.

[Coalition to Cure CHD2 @curechd2]

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: https://t.co/BKzTbOKNea

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

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!
https://t.co/lj2fRmIWvF

[American Epilepsy Society @AmEpilepsySoc]

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: https://t.co/X5r9fIgc2D #ISAW2022 #epilepsy #seizures #EpilepsyAwareness

[Elli Brimble @IDreamofGenes]

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

[Elli Brimble @IDreamofGenes]

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

[Elli Brimble @IDreamofGenes]

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.

[Elli Brimble @IDreamofGenes]

#ciitizen takes #AES2022!!!

[Elli Brimble @IDreamofGenes]

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

[Elli Brimble @IDreamofGenes]

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!

[Elli Brimble @IDreamofGenes]

@TheNotoriousEEG @AmEpilepsySoc This is… amazing