SynGAP10 weekly 10 minute updates on SYNGAP1

Throw the doors open, build your team, tell everyone. #S10e64

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.

Are you coming to our conference in December? Some goodies to share with your favorite #RareDad - #S10e63

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/ 

- #Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html 

- $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial 

- Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy   

 

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

BONKERS week. #S10e62

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

Thank Goodness we have a dynamic team! Some personal news. #S10e61

LET’S FIND MORE PATIENTS (of color)
- https://www.syngapresearchfund.org/syngap-warrior/ethan
- https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ 

WEBINARS
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th  9am PT/12pm ET/5pm BST
- 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 - 9amPT/Noon ET/5pm BST

FUTURE IS COMING
- Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ  #permedconf

GETA was GREAT
https://www.geneticepilepsyteam.com.au/conference-2022/livestream/

STOKE NEWS
Tango with Ed. https://globalgenes.org/rare-cast/episode-387/

NEW GRANT in FINLAND!
https://twitter.com/SyngapNetwork/status/1527660584011022336 

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

- 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://www.syngapresearchfund.org/get-involved/fundraising/syngap-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 61 of #Syngap10 - May 23, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60

PREPRINT
- SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088
- Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 

WEBINARS
- #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA
- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th  9am PT/12pm ET/5pm BST
- 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

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!
- 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   

STORYTELLING
Watch these incredible sessions from our friends at DSF.  And practice telling your story.

#PRAXIS NEWS
Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 

#HUNTERSYNDROME
- Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/
- Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- 

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 

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

- 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://www.syngapresearchfund.org/get-involved/fundraising/syngap-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 60 of #Syngap10 - May 13, 2022

 

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

We raise funds, make mice & they make preprints! It’s working! #S10e59

Congrats to everyone who did #Sprint4Syngap.  Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872

WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA 

STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack 

TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 

GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 

MICE: Help us Make 2!  https://syngap.fund/2mice

RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 

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

- 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://www.syngapresearchfund.org/get-involved/fundraising/syngap-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 59 of #Syngap10 - May 9, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology 

Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html

Links mentioned
-SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt
-Praxis: https://praxismedicines.com/
-Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html
-RogCon: https://www.rogcon.com/company/#partners

EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 

2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187

WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA 

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 58 of #Syngap10 - May 2, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  

We need funding, companies and doctors. #S10e57

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday!

 

THURSDAY

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 

 

SATURDAY
2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 

 

I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ 

 

We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs  

 

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 57 of #Syngap10 - April 25, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology 

Why will companies work on #SYNGAP1? #S10e56

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200!  Sign up now at https: www.ciitizen.com/SYNGAP1

Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org  ;-)

We do cool things like get ICD-10 codes.  I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes.  We are so lucky to have this code, USE IT.  F78.A1

Third, because they believe they will find more patients and we believe that too.  Here are three ways we are working on this:

First, we are working on reaching out to the communities of color to increase genetic testing for NDDs.  If you know someone who would like to support another SRF Movie, please let us know.

Second, we need to resolve VUS patients.  There are too many VUS patients with SYNGAP1.  That is low hanging fruit for finding more patients.

Third, our work with Probably Genetic is going well.  Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe 

Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU 

This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ 

Dates you need to know:

Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 

2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 

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 56 of #Syngap10 - April 18, 2022

#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  

#Sprint4Syngap is just 3 weeks away! #S10e55

#Sprint4Syngap is just 3 weeks away! #S10e55

Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. 

 

Sprint4Syngap

- Learn more at http://Syngap.fund/sprint  

- What is Sprint4Syngap? SRF’s annual fun run fundraiser. 

- Create a team http://Syngap.fund/sprint2022 

- Banners http://Syngap.fund/banner 

 

Fundraising For a Cause

- Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile 

- Dr. Zach Grinspan, Weill Cornell Medicine -  $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005 

- Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/ 

 

Questions? Reach out to Peter! peter@syngapresearchfund.org 

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 55 of #Syngap10 - April 9, 2022

#SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  #Sprint4Syngap