30.9K
Downloads
174
Episodes
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
Saturday Sep 10, 2022
Saturday Sep 10, 2022
Praxis + Ciitizen = PROGRESS #S10e74
PRAXIS & CIITIZEN
Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/
Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/
Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/
LinkedIn - https://www.linkedin.com/feed/update/urn:li:activity:6973995629647720448/
LEON
Light a candle for Leon here https://www.bestattung-huettner.at/sterbefall/52048/?action=gedenkkerzen
GRANTS
So much good news coming. We need to raise more money! Please see list below!
GLOBAL GENES IS NEXT WEEK!
If you can’t come in person, register virtually! https://globalgenes.org/event/rare-patient-advocacy-summit/
STUFF I DIDN’T TALK ABOUT BUT WILL SOON
- Rarebase
- EXN ;-)
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 74 of #Syngap10 - September 9, 2022
#GlobalGenes #PRAX090 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Friday Sep 02, 2022
Friday Sep 02, 2022
SRF Page on Leon - https://www.syngapresearchfund.org/leon
SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967
Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/
SRF on Social for Leon
-https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml
- https://twitter.com/cureSYNGAP1/status/1564626096640901121
- https://www.linkedin.com/feed/update/urn:li:activity:6970394298483630080
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 73 of #Syngap10 - September 2, 2022
#CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Saturday Aug 27, 2022
Saturday Aug 27, 2022
0. SUPPORT OUR PATIENT IN UKRAINE
Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/
Tweet: https://twitter.com/JMGraglia/status/1563362473327005698
1. LONGBOARD PHARMA & RAREBASE
Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY
2. SEIZURE TRACKER
Watch #S10e70 https://youtu.be/g6R9ejJnYbw
More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker
3. WEBINARS
PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae
BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
4. COME TO THE CONFERENCE
Register: https://Syngap.Fund/Treat
Book a room: Link on the registration page.
5. LOTS OF EVENTS TOO!
- 2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 13 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 72 of #Syngap10 - August 27, 2022
#SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Tuesday Aug 23, 2022
Tuesday Aug 23, 2022
0. RAREBASE https://www.rarebase.org/
We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s
Now we are doing phase 2… stay tuned.
1. LONGBOARD PHARMA https://www.longboardpharma.com/
STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI)
TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA)
2. SEIZURE TRACKER
Watch #S10e70 https://youtu.be/g6R9ejJnYbw
More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker
3. WEBINARS
PRAXIS INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae
BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
4. REGISTRIES: CIITIZEN, SIMONS, RARE-X
CIITIZEN FIRST in US (MEDIAL RECORDS)
Sign up at https://Ciitizen.com/SYNGAP1
Refresh by logging into https://app.ciitizen.com
Profile update: https://intercom.help/ciitizen-corp/en/articles/6421786-ciitizen-profile-update
SIMONS GLOBALLY (GC INTERVIEWS)
Simons Searchlight participants can be from any country, as long as they speak English, Spanish, French or Dutch. Click Join Us on https://www.simonssearchlight.org/research/what-we-study/syngap1/
RARE-X (QUESTIONS)
Sign up: https://syngap1.rare-x.org/
Webinar: https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program
5. COME TO THE CONFERENCE
Register: https://Syngap.Fund/Treat
Book a room: Link on the registration page.
6.COVID DEE SURVEY
https://www.surveymonkey.com/r/DEEsCOVID19
7. LOTS OF OTHER EVENTS TOO!
- 3 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 6 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 6 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 11 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 14 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 71 of #Syngap10 - August 23, 2022
#PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Friday Aug 12, 2022
Friday Aug 12, 2022
REFRESH RECORDS COLLECTION
Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect.
SIGN UP FOR TRACKER SURVEY
If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com”
The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study”
DO IT EVERY DAY FOR 30 DAYS
WATCH THE WEBINAR (Number: 64)
FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/
YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/
IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1
LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE
KEY REMINDERS
FUNDRAISERS
BOWIE/ID in US syngap.fund/bowie
BOWIE/ID in CANADA syngap.fund/overcome
MICE: Help us Make 2! https://syngap.fund/2mice
BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/
13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 70 of #Syngap10 - August 12, 2022
#PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Friday Jul 29, 2022
Friday Jul 29, 2022
First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel).
Second grant: Here is the press release and social media on the Bowie grant.
- Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514
- Twitter: https://twitter.com/curesyngap1/status/1552642957546700800
- LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200
- Press Release: https://www.eurekalert.org/news-releases/960181
1. We have LOTS of requests for support, many are good. So you should join us in supporting this one.
2. This is exciting - Quality and Focused - We said yes.
The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy.
Key words from press release:
Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover.
3. Global Collaboration - Overcome and Campdraft/SRF-Australia
Tax deductible Donations in TWO Countries for this grant:
- US syngap.fund/bowie
- CANADA syngap.fund/overcome
4. Reminder: Infrastructure is huge and it’s here for you.
Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work!
FUNDRAISERS
- BOWIE/ID in US syngap.fund/bowie
- BOWIE/ID in CANADA syngap.fund/overcome
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala
- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/
- 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 69 of #Syngap10 - July 29, 2022
#Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Monday Jul 25, 2022
Monday Jul 25, 2022
Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).
Monday
- Invitae Announcement
- Sign up for Ciitizen: https://syngap.fund/ciitizen
- CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.
We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “
Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx
Tuesday
- Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1
- “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.”
- https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg
Wednesday
- Sample collection at Stanford.
- Planning for end of year, see below.
Thursday - CHOP Update
- https://www.youtube.com/watch?v=JVTnkQCtQNo
Friday - Disease concept interview, Rarebase & Colombia
- WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022.
- Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/
- 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 11 Weeks: October 12-15 in OH - Child Neurology Society
- 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient
- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 68 of #Syngap10 - July 25, 2022
#Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Tuesday Jul 19, 2022
Tuesday Jul 19, 2022
COMMUNITY
Two blogs you must read:
- Charlie https://syngap.fund/charlie
- MDBR https://syngap.fund/unite
Vicky is also building community in LatAm, there is a reunion this weekend!
https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w
LEARNING
Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/
- Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o
- Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E
- Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw
- Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo
Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
- 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
- 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
- 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
- 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 67 of #Syngap10 - July 18, 2022
#CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Wednesday Jul 06, 2022
Wednesday Jul 06, 2022
#SyngapCensus for 2q22 is 1098!
https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022
Incidence and Prevalence Article
GRANT TO COURTNEY LAB - Spread the word
-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946
-Press Release: https://www.eurekalert.org/news-releases/957967
GENETICS
Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation
Protein Truncating:
- Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation
- Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation
FUNDRAISERS
- MICE: Help us Make 2! https://syngap.fund/2mice
EVENTS
-September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
-October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
-October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
-November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
-December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 66 of #Syngap10 - July 6, 2022
#CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
Tuesday Jun 28, 2022
Tuesday Jun 28, 2022
WEBINARS
- Susan on Fundraising: https://syngap.fund/susan
- Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie
- Sign up! https://www.ciitizen.com/syngap1/
FUNDRAISERS
- SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/
- MICE: Help us Make 2! https://syngap.fund/2mice
DRAVET WAS AMAZING
- Mike’s Tweet-threads about the event
- Day 1 https://twitter.com/JMGraglia/status/1540061343813885952
- Day 2 https://twitter.com/JMGraglia/status/1540339186187788289
- Day 3 https://twitter.com/JMGraglia/status/1540709603406540803
- DSF https://dravetfoundation.org/
- Conference https://dravetfoundation.org/events/dsf-conference/
- Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade
- Dr. Perry & Dr. Papadelis at Cook Children’s
- Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/
- Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG
- Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/
- Longboard
- https://www.longboardpharma.com/
- https://pacific.researchstudytrial.com/
- Epigenyx
- https://www.epygenix.com/
- Baraban Lab https://barabanlab.ucsf.edu/
- Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288
EVENTS
September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala
October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 65 of #Syngap10 - June 28, 2022
#CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration