Mike Graglia 🌻 @JMGraglia Twitter profile

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Mike Graglia 🌻

1 year

Time to contribute time energy information blood etc. to the #SYNGAP1 NHS at @ChildrensPhila in cooperation with @curesyngap1 seeing Drs @IngoHelbig & @JillianLMcKee . Can’t wait. So far we have done car, TSA and boarding. Follow like this thread to see the trip. #CHOPorBust

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Mike Graglia 🌻

@JMGraglia

2 years

Heading to LA to do a HDEEG with Tony for a @curesyngap1 supported #SYNGAP1 #biomarker study @UCLAHealth then meeting Drs COBA & @MarcellaBirtele at @KeckMedUSC . 🤞 Grateful @BostonChildrens - @sahin_m & @BCH_PoduriLab added a West Coast site! Follow this 🧵 today!

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Mike Graglia 🌻

@JMGraglia

2 years

Tomorrow is my birthday, I'm matching every dollar raised on FB for @cureSYNGAP1 the 501c3 I founded to help my son and the 1,000+ patients just like him. Join me to help children with #Autism , #Epilepsy & #ID . We can fix this.

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Mike Graglia 🌻

@JMGraglia

1 year

Fabulous visit to Philadelphia! @cureSYNGAP1 & @curestxbp1 met with the ENDD teams at @PennMedicine & @ChildrensPhila . ENDD Program is the end of excuses re treating #SYNGAP1 & #STXBP1 . The incredible souls in these photos can do this. We are excited to partner with ENDD.

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Mike Graglia 🌻

@JMGraglia

4 years

@momahsoka @bannerite @JuddLegum @ATT @RepMikeJohnson Please do. The only way to stop @ATT from subsidizing domestic terrorism and its deniers is to make it hurt their bottom line 💰.

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Mike Graglia 🌻

@JMGraglia

2 years

Wonderful & strange to look at the neurons of my two sons👨‍👨‍👦‍👦 ( #SYNGAP1 🧬 Variant & Wild Type) side by side on a plate. Thank you @rarebasepbc , @onnofaber , @omidkarkouti & @cureSYNGAP1 for making this possible. Three more lines to go! 💊 #Repurposing #RareDiseases #TherapiesNow

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Mike Graglia 🌻

@JMGraglia

2 years

Team @cureSYNGAP1 is here at the @curedravet bi-annual conference to learn best practices of running a rare #epilepsy patient advocacy group. Up first, @Science_Hood giving a science primer. #curedravet #DSFinDFW #Syngap1

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Mike Graglia 🌻

@JMGraglia

2 years

@KirstenAllen46 Thank Goodness at least one person in America can get some.

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Mike Graglia 🌻

@JMGraglia

1 year

That’s a wrap. Another fabulous @GlobalGenes Rare Entrepreneur Bootcamp @ultragenyx where I shared @cureSYNGAP1 alongside Geraldine Bliss of @CureSHANK & @charleneson of @curestxbp1 . This is one of the best meetings there is for patient advocates. Thank you to Yael & sponsors!

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Mike Graglia 🌻

@JMGraglia

2 years

I was explaining that they should develop a #SYNGAP1 biomarker & then replicate the approach for other monogenic diseases. "Ah the long tail of #RareDisease ..." they said, as if they understood. "No tail." I said, "Think SWARM." There are 1,000+, this is just my top 100 🧬s.

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Mike Graglia 🌻

@JMGraglia

2 years

I am grateful to make this list and to have the work of @cureSYNGAP1 noticed by my friends at @GlobalGenes . The honor is being in the company of so many good people like Effie at @OnceUponAGene and Jeff D'Angelo of @CHAMP1Research . #CAREaboutRARE #SYNGAP1

Global Genes

@GlobalGenes

2 years

Introducing the nominations for the 2022 Rare Champions of Hope Awards. This year we received 190 incredible nominees! Congratulations everyone! View the full list here #COH2022 #COHnominees #RareChampions #CareAboutRare #RareDisease #ChampionsInRare

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Mike Graglia 🌻

@JMGraglia

2 years

Front row seats at the Ultragenyx #RareDisease Bootcamp private performance by @casiomac . So very many amazing souls in this room. @OnceUponAGene @charleneson @fam177a1mamma @Houri_naz @cacna1a @GlobalGenes @rarebasepbc @curechd2 @healx @cureangelman @ThirdRockV & @cureSYNGAP1 !

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Mike Graglia 🌻

@JMGraglia

2 years

❤️ it when a brilliant scientist @jmcoller working with a strong company @TevardB publishes about a therapeutic modality (Tethered mRNA Amplifier) that includes #SYNGAP1 ( @cureSYNGAP1 ) & friends #MECP2 #SHANK3 #CHD2 & #PTEN ! cc: @Rettsyndrome @CureSHANK @curechd2 @PTENResearch

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Mike Graglia 🌻

@JMGraglia

2 years

Should you tell patients about a #VUS 🧬 if you aren't sure? Yes! Please tell patients (especially #SYNGAP1 ) Excited to discuss with @IngoHelbig ( @ChildrensPhila ) Lacey Smith ( @BostonChildrens ) & @nhnchrd at #CNS2022 . 🙏🏼 @paul_kruszka & @GeneDx for the opportunity. @cureSYNGAP1

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Mike Graglia 🌻

@JMGraglia

3 years

How do we make sure @cureSYNGAP1 is doing all it can for our #Syngap1 patients? We study larger #RareDisease groups. That is why after hosting the third round table (which we learned from @curedravet ) I am heading into the @cureangelman meeting to see how they got it done.

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Mike Graglia 🌻

@JMGraglia

2 years

. @IngoHelbig is dropping knowledge in a @ChildNeuroSoc webinar hosted by @DanielGCalame ... just fabulous. Brilliance is when you can create knowledge AND teach it (to mortals like me). Just incredible work. Glad to see #SYNGAP1 making it on the lists... @cureSYNGAP1

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Mike Graglia 🌻

@JMGraglia

2 years

Went to @DisneylandHoteI to raise #SYNGAP1 & #Epilepsy awareness at the 🔟th annual EAD on behalf of @cureSYNGAP1 . So glad to see friends like @BrainRecoveryP @aaronj_syngap1 @jaydensjourney1 & @KCNT1_Epilepsy . Thanks to @eeg2go for the invite.

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Mike Graglia 🌻

@JMGraglia

2 years

#NewProfilePic

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Mike Graglia 🌻

@JMGraglia

7 months

Heading to DC for #RareDisease week and the @cureSYNGAP1 first ever SRF board retreat. We have many exciting efforts afoot! Is going to be an amazing year. #SYNGAP1 #PatientAdvocacy #LoveHopeCure

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Mike Graglia 🌻

@JMGraglia

2 years

Here we are at #permedconf to represent #SYNGAP1 and @cureSYNGAP1 . Grateful to @permedcoalition for the chance to speak today on a remarkable panel.

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Mike Graglia 🌻

@JMGraglia

2 years

I cannot say it too many times, @VickyAArteaga is setting the bar. Building on @cureSYNGAP1 in the US she is raising awareness & building networks across Latin America. Inspirational. I am so grateful you are on our team, #SYNGAP1 is lucky to have you. #PatientAdvocate

Vicky Arteaga

@VickyAArteaga

2 years

Great dinner event with 41 neurologist and specialist from Colombia, Peru, Chile, Mexico and Venezuela to talk about #syngap1 and @cureSYNGAP1

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Mike Graglia 🌻

@JMGraglia

2 years

"I love my brud-er"

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Mike Graglia 🌻

@JMGraglia

2 years

#NewProfilePic

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Mike Graglia 🌻

@JMGraglia

2 years

Huge thanks to @SanJoseStateFB for inviting Tony and his brother John to practice today & the game tomorrow! Tony has #epilepsy b/c of #SYNGAP1 & w/o the Hundley Foundation he would never have had this chance. #AllSpartans @bretthundley7 @cureSYNGAP1

San Jose State Beyond Football

@sanjosestateBF

2 years

• INSPIRE • using our platform to advocate, educate, & elevate! Thank you to our new friends at The Hundley Foundation for introducing us to Tony & Tyler @bretthundley7 We are committed to joining the epilepsy conversation. A brain disorder impacting 3.4 million nationwide.

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Mike Graglia 🌻

@JMGraglia

2 years

Here at ⁦ @EveryLifeOrg ⁩ #RareDC2023 hearing co-chair ⁦ @SaritaEdwards ⁩ kick it off talking about her son and the work ahead for #raredisease patients and families. I’m here on behalf of ⁦ @cureSYNGAP1 ⁩ advocating for SYNGAP1. There will be more of SRF next year.

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Mike Graglia 🌻

@JMGraglia

3 years

I’ve been saying that @ciitizen is amazing for some time. I led @cureSYNGAP1 to be the first #RareDisease group to use them. So I ❤️this feature by @CBSThisMorning . So much gratitude for this team: @anilsethiusa @nashafitter1 @IDreamofGenes FYI @BCH_PoduriLab @AutismBrainNet

CBS Mornings

@CBSMornings

3 years

Communicating health history can be a difficult task. But one startup has found a way to keep track of a patient's medical records while pointing them to innovative therapies. @danajacobson introduces us to @ciitizen and the founder's very personal motivation for the project.

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Mike Graglia 🌻

@JMGraglia

2 years

@SusannaLHarris We love dogs at @cureSYNGAP1

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Mike Graglia 🌻

@JMGraglia

2 years

Getting ready to podcast on the road at the @curesyngap1 meeting next week. Just like ⁦ @OnceUponAGene ⁩! #Syngap10

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Mike Graglia 🌻

@JMGraglia

2 years

Great discussion with @onnofaber & @LynseyChediak of @rarebasepbc on their new #podcast about my our work @cureSYNGAP1 . 🙏 for the invitation! Listen to " #3 - Mike Graglia: Be humble and smart" by Rarebase ⚓ #SYNGAP1 🧬 #Collaboration

#3 - Mike Graglia: Be humble and smart by Rarebase Remarks

Onno & Lynsey recently caught up with Mike Graglia, Co-founder and Managing Director of the SynGAP Research Fund (SRF). SRF is a Rarebase collaborator, and Mike is a leading voice in the rare disease...

podcasters.spotify.com

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Mike Graglia 🌻

@JMGraglia

2 years

This was a good episode of #SynGAP10 ! Shoutouts to @curedravet @MMeskis @DrDaniAndrade @curechd2 @TheNotoriousEEG @CookChildrens @LongboardP @EpyGenix_Therap @BarabanLab @McNamarVirginie @Cure_Cole @SRFMartaMD @VickyAArteaga @phalliburton @BotheOlga @MichaelSFoster1 #s10e65

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund do to help #SYNGAP1 families this week? Subscribe to the #podcast at on #Podbean

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Mike Graglia 🌻

@JMGraglia

2 years

@SikhFeminist I am with you 100% but the analogy to VT could confuse some Americans. Population of Vermont 0.65 m people Population of Punjab 27.75 m That feels like the number to focus on. Imagine turning off the internet for a population the size as California...

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Mike Graglia 🌻

@JMGraglia

2 years

Kapa’a the #Syngap1 #servicedog has arrived!!! Thank you @MeridusK9 , @McNamarVirginie & @cureSYNGAP1 . Check out for more info!

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Mike Graglia 🌻

@JMGraglia

2 years

So looking forward to a day on the Hill tomorrow on behalf of @cureSYNGAP1 with @RareAdvocates to encourage their support for #RareDiseases like #SYNGAP1 via the BENEFIT act. I will also be sharing our family’s story #RareDC2023 @EveryLifeOrg

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Mike Graglia 🌻

@JMGraglia

3 years

This weekend we went to @VisitHMB with Tony. Like most #SYNGAP1 patients, he does not sweat, so the cooler weather and fog are welcome. We need to @cureSYNGAP1 .

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Mike Graglia 🌻

@JMGraglia

3 years

@TheNotoriousEEG @CookChildrens @cureSYNGAP1 💜 THIS. Huge thanks to Jeanie and Ken Huffman on behalf of all the #SYNGAP1 patients who will benefit from having Dr. Perry's time and attention for our disease. FYI: @StokeTx @BCH_PoduriLab @rhuganir @hcmefford @KadamLab @DallmanLab @DrZachGrinspan @EAHellerPhD @SRFMartaMD

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Mike Graglia 🌻

@JMGraglia

1 year

First episode of #CafeSYNGAP1 is up! The first #SYNGAP1 #Podcast #enEspanol by @cureSYNGAP1 . We will reach & support all of our community. Share! @isa_aznarez @AledoNeuro @dretico @EdoPerezP @CNSdrughunter @VickyAArteaga @SRFMartaMD #CafeSyngap1e01

Episodio 01 Valeria y su hija Charo- La Primera Paciente Diagnostic...

Episodio #01 | #CafeSyngap1E01Valeria Torcetta y su hija Charo- La Primera Paciente Diagnosticada con SynGAP1 en America Latina by Café SYNGAP1Bienvenidos a ...

www.youtube.com

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Mike Graglia 🌻

@JMGraglia

3 years

Next week I will be speaking with @OnceUponAGene , Shivani Vyas & Daniel Defabio of @DisorderRare at @GlobalGenes #GGSummit . Really looking forward to discussing how we use storytelling & our #podcast at @cureSYNGAP1 to engage and activate our community. #SYNGAP1 #RareDisease

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Mike Graglia 🌻

@JMGraglia

3 years

A #raredisease family (not #SYNGAP1 ) working with @rarebasepbc just like @cureSYNGAP1 to help their son Landon. I know this incredible mom. Watch this space. Thanks to @Micah_walker701 of @DispatchAlerts for such a beautiful article. More journalism like this please!

Micah Walker

@Micah_walker701

3 years

5-year-old Landon has a TBCD mutation. Allison Bradbury, a principal investigator in the Center for Gene Therapy @nationwidekids said TBCD plays a crucial role in neural development. Because of this, Landon is unable to walk and has difficulty talking.

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Mike Graglia 🌻

@JMGraglia

11 months

Just landed in DC for the @fastercures meeting with @MilkenInstitute . It’s a long flight from SF but this meeting is worth it to learn how to make @cureSYNGAP1 even better. Looking forward to seeing some good people and learning much. #SYNGAP1

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Mike Graglia 🌻

@JMGraglia

2 years

Retrospective Digital Natural History Study Works Tremendous progress for #SCN2A with @Invitae #ciitizen data by @PraxisMedicines . (They are Lsp working on #SYNGAP1 !) Checkout #Syngap10 episode #s10e74 to learn more.

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund do to help #SYNGAP1 families this week? Subscribe to the #podcast at on #Podbean

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Mike Graglia 🌻

@JMGraglia

2 years

"The ecosystem was designed to reward competition, rather than to alleviate suffering... You can herd cats if you move their food." @sharonfterry of @GeneticAlliance 's @TEDMED is timeless. She's an OG Advocate. Where's your talk @TJBichell , @MMeskis ?

Science didn't understand my kids' rare disease until I decided to study it

Meet Sharon Terry, a former college chaplain and stay-at-home mom who took the medical research world by storm when her two young children were diagnosed with a rare disease known as pseudoxanthoma...

www.ted.com

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Mike Graglia 🌻

@JMGraglia

2 years

I am 2️⃣9️⃣ short of 4️⃣,0️⃣0️⃣0️⃣ followers. Help me raise awareness for #SYNGAP1 🧬 & #RareDisease . Give me a follow, or retweet this if you are already following. Yes, there will be lots of lefty 🌊 tweets too... you're welcome! cc: @cureSYNGAP1 @OnceUponAGene @SyngapNetwork

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Mike Graglia 🌻

@JMGraglia

1 year

#UFDcure for @cureSYNGAP1 to raise funds for #SYNGAP1 is on! This going to be incredible.

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Mike Graglia 🌻

@JMGraglia

2 years

We’re back at #DSFinDFW with @curedravet - day 3. Starting strong with legend @BarabanLab talking zebra fish. (cc @DallmanLab & @BCH_PoduriLab ) sharing their work to #cureDravet . It’s an inspiring story.

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Mike Graglia 🌻

@JMGraglia

1 year

As usual @CNSdrughunter is exactly right on all counts in her summary of #IEC2023 . A must read. Glad to see @StokeTx getting a mention. I hope they keep working to @cureSYNGAP1 . #Epilepsy #DEE

Ana Mingorance

@CNSdrughunter

1 year

Here is my summary of the highlights for DEEs from the #IEC2023 meeting. Don't miss @LalDennis summaries on the genetics front, and also the general updates through the hashtag #IEC2023

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Mike Graglia 🌻

@JMGraglia

2 years

Who wants to help a disabled child get safely away from a nuclear ☢️ reactor in a war zone? You do. 💙💜💚 #SYNGAP1 💛💙 #SalvaUkrani ❤️ #helpneeded

Donate Now | Help Syngap Family Escape Ukraine by SynGAP Research Fund

6 year old Syngapian Taisia and her family urgently need to escape Ukraine. They live nearby the occupied and beleaguered Zaporizhzhya Nuclear Power Plant. As the war ...

secure.givelively.org

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Mike Graglia 🌻

@JMGraglia

3 years

. @Nasha & I get lots of questions from new #raredisease groups about what to do and in which order. So we worked with @OnceUponAGene to put our best answers on the record in this episode. Please let us know what you think!

Effie Parks

@OnceUponAGene

3 years

@Foxg1Research Nasha fitter, @cureSYNGAP1 Mike Graglia, sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure.

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Mike Graglia 🌻

@JMGraglia

9 months

John’s first #MonsterJam

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Mike Graglia 🌻

@JMGraglia

2 years

It was a great day. Wonderful to have so many parts of @cureSYNGAP1 in one place. Grateful for these parents in my life. Grateful for companies like @StokeTx . What an honor for this to be my life’s work.

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Mike Graglia 🌻

@JMGraglia

2 years

Good morning from the @EpilepsyFdn #PipelineConf where I’m advocating for @cureSYNGAP1 with Kevin Frye. Follow this 🧵 to see what we’re up to. #epilepsy #syngap1 #Syngap #Conference

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Mike Graglia 🌻

@JMGraglia

2 years

John's back at Bing for another year!

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Mike Graglia 🌻

@JMGraglia

11 months

Accurate, even worse, the @AmerAcadPeds actually opposed the creation of ICD-10 codes for rare diseases which is straight up bonkers. Peds should be shoulder to shoulder with rare groups like @cureSYNGAP1 & @cacna1a fighting for our kids. Nowhere else. #SYNGAP1 #RareDisease

CACNA1A Foundation

@cacna1a

11 months

Our takeaway from our first @AmerAcadPeds @AAPexperience is that they have a history of fighting for kids and changing policy, but our #Rare kids aren’t on their agenda. They don’t understand the importance of shortening the diagnostic odyssey and the role they should play in it

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Mike Graglia 🌻

@JMGraglia

1 year

Kudos to Andy at Salon Z for a great adaptive haircut. Awesome. #SYNGAP1 #Autism #DontTouchMyiPad

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Mike Graglia 🌻

@JMGraglia

4 years

Watch and share this talk from @VanJones68

Van Jones

@VanJones68

4 years

Sometimes we forget: candidates do not HAVE to concede. It's just a norm – and in 2020, NOTHING is normal. So, what happens if a US presidential candidate refuses to admit defeat? Watch & share my new @TEDTalks : #ChooseDemocracy #HoldTheLine2020

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Mike Graglia 🌻

@JMGraglia

3 years

When I started @cureSYNGAP1 with at @SynGAP1mom It was so any family had a place they could go and use the platform to help all children with #SynGAP1 . I never dreamed somebody would scale it across Latin America.🙏 @VickyAArteaga & Juan!

SynGAP Research Fund (SRF)

@cureSYNGAP1

3 years

A new patient story from our director @VickyAArteaga , the leader of aka Syngap América Latina. Spanish language with English subtitles.

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Mike Graglia 🌻

@JMGraglia

3 years

Two episodes of #SYNGAP10 ago, I said this was coming... Let's catch the wave 🌊🧬 & @cureSYNGAP1 !

Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitiz

podcasts.apple.com

SynGAP Research Fund (SRF)

@cureSYNGAP1

3 years

Congratulations to @AcadiaPharma & @StokeTx for announcing their program on #SYNGAP1 ! Our community is strong, organized & ready to partner for trials with 155+ US patients already enrolled in the @ciitizen patient data program. Let's @cureSYNGAP1 .

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Mike Graglia 🌻

@JMGraglia

2 years

This is so cool. I could not turn away... cc @curedravet , @isa_aznarez , @StokeTx & @cureSYNGAP1 Dance Your PhD 2022/2023: SCN1A Poison Exon Variants #SCN1A #SYNGAP1

Dance Your PhD 2022/2023: SCN1A Poison Exon Variants

DNA encodes the instructions for development, growth, and function of an organism. These instructions are in the form of genes, which are made of exons and i...

www.youtube.com

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Mike Graglia 🌻

@JMGraglia

3 years

An important story about what we had to go through to get my #SYNGAP1 son, Tony, his medicine. Thanks to @SafeAccess for sharing this in their newsletter & for mentioning @cureSYNGAP1 which I founded with @SYNGAP1mom ! ASA Activist Newsletter - July 2021

ASA Activist Newsletter - July 2021

In the July 2021 Issue of the ASA Activist Newsletter: Senators Ask for Input on Cannabis Legalization ASA Seeks Rule Change after Sprinter Loses Olympic Spot ASA Launches New PFC Training Platform...

www.safeaccessnow.org

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Mike Graglia 🌻

@JMGraglia

2 years

@AshleyGWinter @gretchemaben Holy shit this is amazing. I will send this to the guy at CDC who made us and is making other #rarediseases beg for ICD codes for our kids with actual genetic dx for life altering diseases. I may need to bulk order these for Christmas. Thank you.

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Mike Graglia 🌻

@JMGraglia

2 years

. @cureSYNGAP1 in 2022: $3.7M Committed to #SYNGAP1 Research since inception via 25 different grants 70K+ Following on 6 social media channels 1,164 Patients counted in 60 countries 200 US patients enrolled in @ciitizen 171 Syngap Warrior profiles 129 blogs

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

New blog post from SRF: "The year in review by the numbers" ➡️ #SYNGAP1 #CareAboutRare #PatientAdvocacy #Neurology #Genetics #epilepsy #autism #raredisease #rarediseaseresearch #specialneeds #stats

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Mike Graglia 🌻

@JMGraglia

2 years

Three years ago, @syngap1mom , Tony & me with ⁦ @DisorderRare ⁩ when ⁦ @cureSYNGAP1 ⁩ was still taking off and I got haircuts. So much has grown!

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Mike Graglia 🌻

@JMGraglia

7 years

@SenJohnMcCain I'll be unfollowing you now, you had me at keeping ACA alive, you lost me when you proved you actually don't care about this country and support the donor relief act last week.

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Mike Graglia 🌻

@JMGraglia

4 years

Never in my life have I worked so hard, enjoyed it so much and made no money... and I was in the @PeaceCorps ! Check out my latest update from @SyngapRF .

SynGAP Research Fund (SRF)

@cureSYNGAP1

4 years

Latest #SYNGAP10 episode with @jmgraglia . Learn about what #SynGAP Research Fund is doing to help #SYNGAP1 families work for their loved ones. on #Podbean

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Mike Graglia 🌻

@JMGraglia

2 years

Made it to #LAX on @SouthwestAir (thanks to iPads and @angrybirds ). So many questions. Reminds me how much we don’t do with Tony because of #SYNGAP1 . He’s sporting his @GlobalGenes backpack & @cureSYNGAP1 shirt.

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Mike Graglia 🌻

@JMGraglia

1 year

Thank you @KSLcom & @loganstefanich for this writeup on @ClementYChow and @cureSYNGAP1 ! We are excited about this work and grateful for the partnership for patients with #SYNGAP1 . 💊🪰🔬🧬🤞

Clement Chow

@ClementYChow

1 year

A nice write up at @KSLcom about our partnership with @cureSYNGAP1 to try to find a possible therapy for SYNGAP1. Flies to the rescue.

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Mike Graglia 🌻

@JMGraglia

4 years

@NEJM @chrissyfarr Hey @ProjectLincoln you're going to want to retweet this one.

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Mike Graglia 🌻

@JMGraglia

2 years

My friend @fam177a1mamma is an inspiring #RareDisease mama. Watch her new video and learn about #FAM177A1 here. Follow this lady, she's the real deal. #Epilepsy #Autism

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Mike Graglia 🌻

@JMGraglia

2 years

This chart is 🤯 @StokeTx @AcadiaPharma @PraxisMedicines @berit_powers @Prosser_Lab @ingridscheffer @biosignals @BCH_PoduriLab @TevardB @jmcoller @DrDaniAndrade it shows so clearly how varied the #SYNGAP1 mutations are and how tricky it is to catch and diagnose our patients...

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Mike Graglia 🌻

@JMGraglia

3 years

From Autism to Rare Disease: One Family’s Journey to an Unexpected Diagnosis (Guest Post) -

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Mike Graglia 🌻

@JMGraglia

2 years

Incredible progress. Well done to @PraxisMedicines and @Invitae , we are so glad you are also working on #SYNGAP1 with @cureSYNGAP1 .

Praxis Medicines

@PraxisMedicines

2 years

The needs of patients with #CNS disorders are devastatingly urgent. Learn more about our work w/ @invitae to accelerate & optimize the development of new therapies for #epilepsy by breaking #data silos & gathering real-world data: #SCN2A #SCN8A #SYNGAP1

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Mike Graglia 🌻

@JMGraglia

3 years

So proud of this, it has taken a while. First a #SYNGAP1 Dx for Tony c/o @IDreamofGenes , then ➛ create @cureSYNGAP1 w/ @BCH_PoduriLab on the SAB, then ➛ @ciitizen w/ @nashafitter1 @anilsethiusa & @rarevirginie ... now this. WE ARE MAKING GREAT PROGRESS!

SynGAP Research Fund (SRF)

@cureSYNGAP1

3 years

🚨 Announcing critical #SYNGAP1 #EEG #biomarker & @ciitizen data natural history project @BostonChildrens under the leadership of Drs Levin, Sahin & @BCH_PoduriLab . Gratitude for fundraising families, EEG volunteers & those sharing data via SRF CIITIZEN.

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Mike Graglia 🌻

@JMGraglia

3 years

Dear @HorizonCEOTW there are lots of undiagnosed rare disease kids. TAM is large. Preventing @SLC6A1_Mom & @curestxbp1 from getting your assets a new indication by pricing like a pharma bro is just not smart. Please reconsider. cc: @HorizonNews & @GlobalGenes

SynGAP Research Fund (SRF)

@cureSYNGAP1

3 years

This A+ @statnews article is hard to read. Our friends at @curestxbp1 🧬& @SLC6A1_Mom 🧬 have promising results in a drug for their kids, but @HorizonNews , @HorizonCEOTW are holding on to ridiculous pricing. Could it help #SYNGAP1 🧬? FYI: @GlobalGenes

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Mike Graglia 🌻

@JMGraglia

1 year

Getting ready for the @cureSYNGAP1 conference on November 30 & December er 1 by getting the shirts early... SRF #SYNGAP1 Conference 2023 on @Bonfire

SRF SYNGAP1 Conference 2023 | Bonfire

Order your shirts today, wear them to the conference Nov. 30 - Dec. 1! . November 30 - December 1 Learn more on our website: https://www.syngapresearchfund.org/professionals...

www.bonfire.com

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Mike Graglia 🌻

@JMGraglia

2 years

Some amazing souls in this photo @WONDERGIRLSAIDA , JGS of @csnk2a1org , Jennifer G of @LGS_Foundation , Siri of @CFRI_CureCF , @NishaTri04 and more. What a measure it was to advocate for #RareDisease & @cureSYNGAP1 with @RareAdvocates & @EveryLifeOrg

Nisha

@NishaTri04

2 years

Grateful to meet with the staff of @SenFeinstein as part of #RareDC2023 to discuss legislation that’s crucial to the well-being of the rare disease community! Thank you @EveryLifeOrg and @RareAdvocates for organizing another amazing event!

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Mike Graglia 🌻

@JMGraglia

2 years

Incredible results. The people saying otherwise are betraying their lack of understanding.

Ana Mingorance

@CNSdrughunter

2 years

The company @StokeTx just announced the first efficacy data from the ongoing Phase1/2 trial in #Dravet syndrome. This is an ASO to boost SCN1A expression, not a seizure drug, and at the highest dose they have very nice data. Looks really promising, will see more data at #AES2022

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Mike Graglia 🌻

@JMGraglia

2 years

🙌🏻This model is exactly what is needed but in tragically short supply. Every single #SYNGAP1 family in (or near) DFW/Texas should run, not walk, to @CookChildrens where they can benefit from the expertise, leadership & genuine quality care of 😎 @TheNotoriousEEG cc: @cureSYNGAP1

The Notorious EEG (M. Scott Perry MD)

@TheNotoriousEEG

2 years

I’m pleased to announce that coming Oct 2023, @cookchildrens will re-envision how neuroscience care is provided to our patients. 🧠 #BetterTogether #JustinMind #neuroscience New institute brings specialties together to provide seamless health care

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Mike Graglia 🌻

@JMGraglia

1 year

#S10e111 of #SYNGAP10 is up! Learn what @cureSYNGAP1 is doing to improve the future of patients with #SYNGAP1 . Shoutouts: @IngoHelbig @Stanford_Neuro @rhuganir @combined_brain @syngapmom @un_eric @ChildrensPhila @StokeTx @PraxisMedicines @ciitizen @Invitae @UCLANeurology

SynGAP Research Fund (SRF)

@cureSYNGAP1

1 year

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund doing to help #SYNGAP1 families this week? Subscribe to the #podcast at .

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Mike Graglia 🌻

@JMGraglia

1 year

I love this poster. To see @cureSYNGAP1 and @cureangelman side by side tells me we are on the right track. Brava @VickyAArteaga for your leadership in #LatAm . Thx @dretico for working with our #SYNGAP1 community.

Andres Jimenez-Gomez MD

@dretico

1 year

Good-bye, beautiful #Prague . Welcoming and forward-thinking. An absolute pleasure to be a part of #EPNS2023 . Off to the next adventure! @VickyAArteaga @jasonsgill

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Mike Graglia 🌻

@JMGraglia

1 year

Yo ⁦ @TheNotoriousEEG ⁩ SynGAPian Tony repping ⁦ @CookChildrens ⁩ and ⁦ @curedravet ⁩ today here at ⁦ @cureSYNGAP1 ⁩ HQ!

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Mike Graglia 🌻

@JMGraglia

1 year

I am blown away by this one. The balance of hope, reality, faith, fear... unflinching truth. You have to hear about Story. We have to @cureSYNGAP1

Story, adopted at age 13 with SynGAP, turns 19. Join her family in...

From mom: In honor of our daughter Story's 19th birthday we'd like to share her journey with you. We did this video as a fund raiser for SRF and to help our ...

www.youtube.com

SynGAP Research Fund (SRF)

@cureSYNGAP1

1 year

The families in the @cureSYNGAP1 ! community are inspiring. Watch and understand what some SYNGAP1 families do. This will be the best thing you watch all week. #SYNGAP1 #raredisease #adoption #inspiration #faith

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Mike Graglia 🌻

@JMGraglia

3 years

Grateful for science. Need to keep my rare warrior strong.

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Mike Graglia 🌻

@JMGraglia

3 years

@phylogenomics @UofCalifornia @ucdavis I'm so sorry Prof. Eisen, you are on two of the best insulins and you will need to fight to stay on them. I'd include @UCDCHRO in your concerns since it was likely her office that switched the health plan. Curious to know what they saved and... 1/x

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Mike Graglia 🌻

@JMGraglia

2 years

Heading to #SyngapConf22 and @AmEpilepsySoc in #Nashville . Can’t wait to see everyone and sessions like these from @LalDennis ! #SYNGAP1

Dennis Lal

@LalDennis

2 years

Our team is giving & hosting the next days at #AES2022 #AES22 & satellite meetings #TARGETingEpilepsy #SLC6A1 several talks and sessions about cutting-edge 🔥genetic test 🧬interpretation. Join us & check out my slide on my favorite variant interpretation tools & resources.

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Mike Graglia 🌻

@JMGraglia

1 year

Whoever said don’t meet your heroes was so wrong. Incredible time here at @StJude PTNI meeting. This organization will have so much positive impact on Pediatric Neurology and hopefully SYNGAP1.

SynGAP Research Fund (SRF)

@cureSYNGAP1

1 year

Our legal director Kevin Frye and CEO @JMGraglia are @StJude PTNI to learn about Pediatric Translational Neuroscience alongside 3️⃣0️⃣ Patient Advocacy Groups. We are ensuring that #SYNGAP1 is part of the conversation & our patients will have every opportunity for new therapies.

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Mike Graglia 🌻

@JMGraglia

3 years

@Adamhill1212 @savvy_coop on behalf of my son and all the kids like him with #SYNGAP1 and other epileptic encephalopathies, 🙏🏻 thank you. cc: @cureSYNGAP1

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Mike Graglia 🌻

@JMGraglia

2 years

SRF helps 🇺🇦 #syngap1 patient escape to 🇵🇱! Proud of the generous & caring @cureSYNGAP1 community & @beatasyngap1 Therapies are coming, we just need to keep our kiddos in shape until they arrive. If that means Lexapro or if that means getting out of a war zone, we’re in.

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

New blog post from SRF: "A letter of thanks from a Ukrainian SynGAP family" ➡️ 💙💜💚 #SYNGAP1 💛💙 #SalvaUkrani

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Mike Graglia 🌻

@JMGraglia

2 years

Remember to appreciate what it given. #gratitude

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Mike Graglia 🌻

@JMGraglia

2 years

SynGAPians will just run away or “elope” without warning — #autism — so we have an @apple #airtag just in case… so many thing to think about when you leave the safety of your routine. He’s really not into LA traffic.

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Mike Graglia 🌻

@JMGraglia

4 years

Thrilled to be talking about the #SYNGAP1 Diagnostic Odyssey, and honored to be speaking with @healx , @illumina & @curestxbp1 leader @charleneson . This will be good.

Healx

@healx

4 years

Interested in learning how to accelerate #raredisease diagnosis? Join us and speakers from @FabricGenomics , @SyngapRF , @illumina and @curestxbp1 to explore the challenges and opportunities associated with identifying rare conditions. Register here:

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Mike Graglia 🌻

@JMGraglia

2 years

@ClementYChow @cureSYNGAP1 And we are getting better at learning about which scientists are eager to collaborate with us vs. treating us a source of funding. It's clear you are excited to collaborate and care deeply about the results changing the lives of our loved ones. Thank you.

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Mike Graglia 🌻

@JMGraglia

2 years

Good episode of #Syngap10 . Shoutouts to @LaurenPerry80 @phalliburton @pavelg0 @caitlin_kaspar @Suzannevjones @LongboardP @IngoHelbig @StokeTx @EpyGenix_Therap & the might @cureSYNGAP1 community. @AftrTheShock you may like this one too. Photo of Tony for 👀. #s10e67

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund do to help #SYNGAP1 families this week? Subscribe to the #podcast at on #Podbean

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Mike Graglia 🌻

@JMGraglia

3 years

#Crypto Peeps: Check out this #NFT @sunblocks_nft auction for @cureSYNGAP1 . Any help promoting it is appreciated. 💯% of funds support #SYNGAP1 🧬 research. @bobreideverest @TeamEverestLiam @kitevc @corbpage @TomicahTD @mdkail @ID2020 @ConsenSys 🌄 🌇

SunBlocks - Profile | OpenSea

Check out SunBlocks's NFTs on OpenSea, the largest marketplace for crypto collectibles.

opensea.io

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Mike Graglia 🌻

@JMGraglia

1 year

@RoxanaDaneshjou Listen to your big sister. Call her and debrief often.

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Mike Graglia 🌻

@JMGraglia

2 years

Day 2 of the #DSFinDSW meeting. Kicking off the science track with @csmetcalf talking about #ETSP @UUtah . This powerful platform from @NINDStranslate would be valuable for #SYNGAP1 . We need to get a model in there to @cureSYNGAP1 , @NINDSdirector ! Follow 🧵 to join us today! 👇

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Mike Graglia 🌻

@JMGraglia

2 years

#S10e98 focuses on the @fastercures Research Partnership Maturity Model (RPMM) and how we will be using it @cureSYNGAP1 to advance progress for #SYNGAP1 Also mentioned: - #Sprint4Syngap & press - Upcoming @JillianLMcKee Webinar/ @ciitizen data - @MDBRide4Rare - #SyngapConf

SynGAP Research Fund (SRF)

@cureSYNGAP1

2 years

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund do to help #SYNGAP1 families this week? Subscribe to the #podcast at on #Podbean

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Mike Graglia 🌻

@JMGraglia

3 years

This. All of it. Again and again. @keithmcarthur is exactly right. Put me down for a cure. @cureSYNGAP1 . Soon. Read this article.

Keith McArthur 🇺🇦

@keithmcarthur

3 years

Finding a cure for Bryson's rare disease has become part of my identity. But I still struggle with the term and the mission. Here's my Globe and Mail piece about working through this.

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Mike Graglia 🌻

@JMGraglia

2 years

SynGAPians are photosensitive so must remember 🕶. And they don’t really 😓 Sweat. So I brought a cooling vest. Didn’t think I’d need it to get to Lyft. I was wrong. He’s already done. Haven’t done escalators for a while. Notice the in-toe on the ride down. #hypotonia #Syngap1

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Mike Graglia 🌻

@JMGraglia

1 year

#S10e112 is up and it's good. Shoutouts to @julietkknowles @Stanford_Neuro @IngoHelbig @goodfrognosis @KadamLab @sidasrgupta @currentClamp @natashanludwig It's a good week for #SYNGAP1 research.

SynGAP Research Fund (SRF)

@cureSYNGAP1

1 year

Listen to the latest #SYNGAP10 episode with @jmgraglia ! What is #SynGAPResearchFund doing to help #SYNGAP1 families this week? Subscribe to the #podcast at

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Mike Graglia 🌻

@JMGraglia

3 years

This. But louder. Retweet.

Bhooma Aravamuthan MD DPhil

@drbhooma

3 years

One of my families was told previously that their child couldn't have autism because they had an infantile brain injury better explaining their symptoms. They've been denied autism-focused supports since. If that makes you mad (it should) then you should be just as mad when...

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Mike Graglia 🌻

@JMGraglia

2 years

My DMs are filling up with pictures and video of the @cureSYNGAP1 team @MDBRide4Rare including our very own #SYNGAP1 Aunt & SAB member Dr. @EAHellerPhD ! It’s a good day for our #community . Support the team via

Liz Heller

@EAHellerPhD

2 years

@cureSYNGAP1 @UFDTech @aaronj_syngap1 @phalliburton @WorthKali @hcmeste @ODC_UPenn Great day for a ride!

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