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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
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
Tuesday Jun 14, 2022
Tuesday Jun 14, 2022
TELL EVERYONE
- New mom chat
- Kali’s article and twitter
- https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6
- https://twitter.com/WorthKali
- Tavillas: https://syngap.fund/susan (6/22/15)
CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
DRUG CO NEWS
- Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html
- Praxis update: At the end, scroll down.
CIITIZEN
- Webinar was awesome https://syngap.fund/virginie
- Sign up! https://www.ciitizen.com/syngap1/
PROBABLY GENETIC IS WORKING!
- Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
- Webinar: https://syngap.fund/PG
- Sponsored testing with Mahzi! https://mahzi.com/
REMEMBER NOT TO MISS
- June 2022 https://mailchi.mp/syngapresearchfund.org/june22
- Sign up for the EF Panel: https://bit.ly/efmen
FUNDRAISERS
- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
- MICE: Help us Make 2! https://syngap.fund/2mice
EVENTS
- June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.
- September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.
- 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 64 of #Syngap10 - June 14, 2022
#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi
Copy from letter from Praxis:
Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it.
On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process.
We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach major milestones on this path. In addition, our other programs in PCDH19 and SYNGAP1 remain on-track.
Beyond epilepsy, Monday’s 8K filing announced significant news pertaining to our Aria study of PRAX-114 in Major Depressive Disorder (MDD). It is with great regret that we announce the failure of the Aria Study, a study to determine the efficacy of a GABBA PAM extrasynaptic preference medicine to achieve fast-acting, lasting reduction of symptoms of MDD. After reviewing the data and our operational controls and observing failure to achieve our primary endpoint, we determined that PRAX-114 was indeed safe but not efficacious, and no further research and development of PRAX-114 is warranted. This conclusion has a negative impact on the study of PRAX-114 to treat Post-Traumatic Stress Disorder and Essential Tremor. This is a difficult decision for the Praxis team; but our commitment and capacity to researching and developing genetic insight-based treatments for people living with disorders of the CNS is in no way diminished.
Tuesday Jun 07, 2022
Tuesday Jun 07, 2022
CHECK OUT THIS CONFERENCE: https://syngap.fund/treat
PROBABLY GENETIC IS WORKING!
- Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/
- Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund
- Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST
DON’T MISS OUR NEWSLETTER
- June 2022 https://mailchi.mp/syngapresearchfund.org/june22
- Sign up https://www.syngapresearchfund.org/families/newsletters
- Please make sure we are not going to Spam
#FATHERHOOD & RARE
- Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg
- SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia
LINKS FORM EF #PIPELINECONFERENCE 2022
- Agenda: https://www.epilepsy.com/research-funding/pipeline-conference
- Kayak study for #SCN8A: https://kayakstudy.com/
- $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial
FUNDRAISERS
- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
- MICE: Help us Make 2! https://syngap.fund/2mice
EVENTS
June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.
September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.
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
EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/
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 63 of #Syngap10 - June 7, 2022
#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare
Sunday May 29, 2022
Sunday May 29, 2022
OUR LEADERS ROCK
- Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors
- Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom
- Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu
- Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap
PROBABLY GENETIC IS WORKING!
- https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap
WEBINARS
- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST
- Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording!
FUNDRAISERS
- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22
- MICE: Help us Make 2! https://syngap.fund/2mice
- MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267
- YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers
EVENTS
- June 11 in Philly - Support our team https://syngap.fund/srfmdbr22
- June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon.
- September 12-14 in San Diego - #GlobalGenes Meeting. Link soon.
- 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 - Stay tuned
EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1
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 62 of #Syngap10 - May 28, 2022
#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration