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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
5 days ago
5 days ago
July 7, 2025 Week 28
ADAMS CAMP
https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/
CENSUS & WHY WE WILL SEE MORE PATIENTS
AAP recommends Whole Exome as a first line test for GDD/ID.
SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.
https://curesyngap1.org/census/
https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0
First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still?
WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/
Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking.
Martina - First patient from Uruguay.
SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories
IMPORTANT SRF POSTS
Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
VOLUNTEER SHOUT OUT
Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.
CONFERENCE - DECEMBER 4th & 5th
Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta
FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF
Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!
WEBINAR
#108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars
PRESS RELEASE
WHY OUR RESEARCH MATTERS
Bowie Lab Talk on Glutamatergic Neurons. We learn about Intelligence from studying ID.
https://www.youtube.com/watch?v=sfcN2BuZOJw
NUMBERS
PUBMED 334, 26, so -1 vs. weeks.
Follow on Youtube and LinkedIn, they matter.
https://www.linkedin.com/company/curesyngap1/ 4,221
https://www.youtube.com/@CureSYNGAP1 1,390
#S10e173 CORRECTION
I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.
NICOLE’S POST
I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son.
Dear Syngap,
It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me.
I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace.
One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go.
You make him miserable. And I hate you for it.
You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see.
People don’t see what I see. They don’t hear the cries in the middle of the night or witness the exhaustion in his body. They don’t see the war raging inside him. And me? I’ve been called crazy, overprotective, dramatic. But I don’t care. I’ll wear those labels like armor. Because as long as my son is fighting, I will fight harder.
You tried to take so much from us. You tried to steal my marriage, tried to break my family apart, tried to strip away our joy. You’ve knocked us down, over and over again. But listen to me, Syngap: you will never have us.
And here’s the strangest thing. For all the hell you’ve put us through, you’ve also given me things I never expected. You’ve made me stronger than I ever thought possible. You’ve forced me to fight with a fierceness I didn’t know I had. You’ve shown me how to love deeper, to celebrate what others overlook, to appreciate moments most take for granted.
You take and you take—but somehow, you also build. You break, yet somehow, you make us unbreakable.
But hear me loud and clear: you don’t win.
Tomorrow, my son will wake up, and despite you, he will rise. He will smile. He will fight. He will accomplish things you never thought he could. And I? I’ll be there, standing beside him, fighting for him, daring you to try and stop us.
You don’t get the final say, Syngap. Not today. Not ever.
My son is more than you. And you have underestimated his mother.
Sincerely,
A Syngap Momma
Friday Jun 20, 2025
Friday Jun 20, 2025
It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO
Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
CAMP4 Update - Hear it from them, in our US or EU Webinar.
US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/
EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/
Amlexanox and Cool Science
Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/
Inaugural New Family Webinar
Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/
Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled!
STUDIES - MATTER
ORTAS (need many, 27 signed up, 8 completed.)
https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/
BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/
“Dear Families,
This is a brief update on the Communication abilities in Children with Genetic Conditions study.
The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions.
We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available.
With best wishes,
Harriet and the Communication abilities in Children with Genetic Conditions study team.”
PRESS
JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/
Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/
Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/
Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/
NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45
FUNDRAISING
Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/
MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR
Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate
Liam https://donate.curesyngap1.org/campaign/696438/donate
Story https://donate.curesyngap1.org/campaign/695981/donate
Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate
Pubmed is at 24 (so less than one a week…)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc
Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068
Cunnane DCM is out and Ingo noticed!
https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/
She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA
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
- 4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,380 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,314 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 173 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Sunday May 18, 2025
Sunday May 18, 2025
Sunday May 18, 2025. Week 21
Show notes on the site: https://curesyngap1.org/podcasts/syngap10/
CAMP4
Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders
Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo
Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations
To get these Therapies to kids the NHS data is key, ProMMis
CHOP - Email them ENDD@chop.edu
Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/
Citizen Health
https://cureSYNGAP1.org/Citizen is at 267, why not 300?
Hopkins article featuring SRF - Competition is good for the patient
LI
ASGCT
- Mouse poster for Q504X from the JAX, Dr. Matt Simon
- Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY
- Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan
What about this guy?
PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM
Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo
More incredible news
https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge
REPURPOSING
Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap
#Amlexanox with Fortuity Pharma. https://fortuitypharma.com/
Butyrate Update
Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper.
SunButyrate https://a.co/d/7kiHXS8
PUBMED
328 total with 20 YTD
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded
Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub
SRF Fundraisers
MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/
Well done to Tavilla and Jones! We are over $221k
Tavilla clears $160k for Sprint.
https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255
Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated. Amazing and thank you to Krispy Kreme.
https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677
SRF PROFILES
Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P
Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/
Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior
PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE
https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/
Thursday May 01, 2025
Thursday May 01, 2025
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 Apr 25, 2025
Friday Apr 25, 2025
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
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 Apr 15, 2025
Tuesday Apr 15, 2025
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!
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)
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 Apr 09, 2025
Wednesday Apr 09, 2025
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)
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
Wednesday Mar 26, 2025
Wednesday Mar 26, 2025
Wednesday, March 26, 2025 – Week 13
#S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever. Don’t miss it, or the comments. Feel free to add to them!
One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia. Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8
Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal
PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/
PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/
#Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!
https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss
Getting to know our community:
- Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories
- Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/
- Sibling Story with Kallen https://cureSYNGAP1.org/Sibling
- DW of SRF AUS https://www.facebook.com/reel/1345989426605772
- Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25
- Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24
PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident)
Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf
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Episode 167 of #Syngap10
#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS
Tuesday Mar 18, 2025
Tuesday Mar 18, 2025
Tuesday, March 18, 2025 - Week 12
SYNGAP1 & Unmet Need
Preface
- 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.
Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:
- 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.
Behavioral & ID: Our kids have enough physical ability to make behavior very challenging:
- 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.
Family: Toll on caregivers & family is a heavy cost that is rarely counted:
- 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.
Parents will travel:
- 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
Tuesday Mar 11, 2025
Tuesday Mar 11, 2025
What Medicaid means to your family: https://action.thearc.org/3jLx90b