Email: Ilakkiah.Chandran@uhn.ca about this study!

Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.

All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults! It’s worse. There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important. BTW, soon we will have treated and untreated!

Dr. Andrade and her team are the best in the world. Dravet/SCN1A is “the one”

Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

https://pubmed.ncbi.nlm.nih.gov/33677403/

https://pubmed.ncbi.nlm.nih.gov/28186331/

https://pubmed.ncbi.nlm.nih.gov/22780858/

She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/. Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same. So… this is our moment.

Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org

Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

Friday, April 25, 2025 - DNA Day

Good luck at Sprint tomorrow. $194k at this moment.

WODC Readout

Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)

RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar. (Other Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)

Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard).

ASO Update: Trials need heterogenous populations. At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons. Once approved, or in subsequent trials, I assume it will be available more broadly but not at first. Trials are coming, take notes and videos.

Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn

Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/

Sign up for the conference: 222 Days!

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv

Effie on TJB

https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1

CB Blood Drive this weekend in TN. Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

Tuesday, April 15, 2025 – Week 16

CURRENT NEWS

#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas!

Board Announcement: https://www.eurekalert.org/news-releases/1080490

LEARNING ABOUT SYNGAP1

ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.

Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674

YT https://youtu.be/VBWa0FklYJs

• Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/

• Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A For instance, these won't repair, but they will will upregulate... = make work harder.

MORE NEWS

In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!

https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/

SIBLINGS

Tell your story, please for the other ones.

https://curesyngap1.org/syngap-siblings/shanaye-worth/

https://curesyngap1.org/sibling-support/

PUBLICATION COUNT

PubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

- 4,009 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube. https://www.youtube.com/@CureSYNGAP1

- 11,369 Twitter https://twitter.com/cureSYNGAP1

- 46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 169 of #Syngap10

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, April 9, 2025 – Week 15

Condolences to the Brimsek family and thank you John & Tobi for all your support. We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories

Trip Report, two crazy days. Many takeaways. Trials may be coming soon. If there is a trail, sign up. Every time. khuba@jcu.edu

Do the Frazier Study and do the follow-ups! https://curesyngap1.org/eye2 Global as well. Australia, UK, Canada, please help.

We are busy too! DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU

Census is 1,581! https://curesyngap1.org/blog/syngap1-census-2025-update-q1/

Impact report has a webinar! https://cureSYNGAP1.org/Impact

Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44

Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill

We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.

Other blog about the CB Roadshow, please join us there

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

And the Polish Community speaking out about ASO trials:

https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/

#Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $66,383

https://www.youtube.com/watch?v=IW7owIsdjss

Bowie - Our funding goes far:

https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181

Also see this from CZI, featuring SYNGAP1 in Dr. Willsey’s work https://www.czbiohub.org/life-science/unlocking-biology-autism/

PubMed is at 17 YTD, 324 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

VOLUNTEER

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

- 3,996 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube. https://www.youtube.com/@CureSYNGAP1

- 11,391 Twitter https://twitter.com/cureSYNGAP1

- 46k Insta https://www.instagram.com/curesyngap1/

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 168 of #Syngap10

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Tuesday, March 18, 2025 - Week 12

• Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.
• This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you.
• SRD is slow moving, but suddenly changing and completely enervating.

• Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros
• Medication changes can cause issues such at rage
• Long-term side effects, e.g., bone health issues, from chronic medication use
• Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.)
• Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait.

• Pain and behavior compounded by being non-verbal as they grow
• Violence against family—bites and scratches
• Violence against self, just sheer frustration
• Elopement & no sense of danger as a constant stress/burden
• ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill.

• Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family.
• Exhaustion from the diagnostic journey, assessments, and caregiving.
• Marriages fall apart under the pressure.
• Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children.
• Siblings are the last to be noticed but first affected.

Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.

• We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise.
• Example: the day I wrote this presentation I saw these 4 Facebook posts:
  • VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl
  • B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ
  • CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl
  • RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698

Episode 166 of #Syngap10

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS