POPULARITY
18 episodes with syngap research fund
7 episodes with syngap research fund
Show Notes Stacey Miller, SRF's 2024 SYNGAP1 Conference Director and SRF's State Ambassador (Idaho), talks all things Conference, connecting with the SRF community, her son Jack's diagnosis, seizures, behavioral issues, and how her family's SYNGAP1 life impacts Jack's older sibling, Ava. All episodes are available at Syngap.Fund/Stories. Jack's Warrior Story Connect with Stacey stacey@cureSYNGAP1.org Stacey's SRF bio Connect with Rainy: rainy@cureSYNGAP1.org Rainy's SRF Bio Instagram - @Hope4theCure YouTube - @Hope4theCure Facebook - Hope SelahMay SYNGAP1 Stories Episode 028 SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Donate to SRF Get Involved with SRF SRF's State Ambassador Program Wednesday Warriors Supporting SYNGAP1 Siblings SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Details for SYNGAP1 Conference 2024 Addressing the Symptoms of SYNGAP1 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok YouTube SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 029 SYNGAP1 Stories, November 19, 2024 #SYNGAP1StoriesJack #Syngap #SYNGAP1 #CureSYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp29 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication
Show Notes Rainy Schlosser is in the middle of a 7,500 mile drive-a-thon to participate in 3 studies to help find a cure for SYNGAP1. She talks with Ashley about the studies, her daughter Hope's incredibly difficult medical journey, what makes Hope happiest, an EEG with Curious George, and the wonderful connections they are making along the way! This is a fundraiser, so please check out Syngap.Fund/Hope4theCure! All episodes are available at Syngap.Fund/Stories. Hope's Warrior Story My SYNGAP1 Drive-a-thon, Hope4theCure Connect with Rainy & Hope: Instagram - @Hope4theCure YouTube - @Hope4theCure Facebook - Hope SelahMay Other Links Cannonball for the Cure Connect with Ashley: afrye@curesyngap1.org Ashley's SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Wednesday Warriors Supporting SYNGAP1 Siblings Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts SYNGAP1 Family Day 2023 – A Beacon of Hope! (blog with videos) Pre-register for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok YouTube SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 028 SYNGAP1 Stories, April 11, 2024 #SYNGAP1StoriesHope #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp28 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #Behavior #Communication #Hope4theCure #Driveathon
Show Notes In this special episode, guest host Jessica Johnson talks with Jackie Kancir. The two SYNGAP1 Moms discuss education systems, on the farm with Jadyne (Jackie's daughter), make-up, behavioral issues, Jadyne's optimism, and advocating for your children! This episode will educate everyone in the rare disease world. Behavior is communication - listen for details! See all episodes at Syngap.Fund/Stories. Jadyne's Warrior Story Connect with Jackie: jackie@curesyngap1.org Jackie's SRF bio LinkedIn Other Links SRF SYNGAP1 Resources for Education & Advocacy SYNGAP1: Background, Development, and the Impact on Children Information on ABA - Applied Behavior Analysis - Link 1; Link 2 Severe Behaviors and Advocacy, SRF Webinar #53 by Jackie Exploring Advocacy: Finding and Refining Your Voice - webinar hosted by Jackie Jackie has misc. links news, media, etc. here Connect with Ashley: afrye@curesyngap1.org Ashley's SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye Connect with Jessica: jjohnson@curesyngap1.org Kai's Warrior Story SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Wednesday Warriors Supporting SYNGAP1 Siblings Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts SYNGAP1 Family Day 2023 – A Beacon of Hope! (blog with videos) Pre-register for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 027 SYNGAP1 Stories, March 3, 2024 #SYNGAP1StoriesJadyne #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp27 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #Elopement #BehaviorIsCommunication
Show Notes The most moving episode yet! Paulina Polanco is caregiver to her twin sisters Libertad (Libby) and Esperanza (Espy). She delivered a raw, personal address at the 2023 SYNGAP1 Conference hosted by SRF. This episode not only includes that speech, but Ashley talks candidly to Paulina to expand upon her life with twin Syngapians. See all episodes at Syngap.Fund/Stories. Warrior Story for Libby & Espy Connect with Paulina: Instagram Facebook Blog Posts Written by Paulina: SRF – Our Voice is Getting Louder for SYNGAP1! SYNGAP1 Family Day 2023 – A Beacon of Hope! Other Links: SRF Siblings Page Fondo de Investigación Syngap Recursos en español Café Syngap1 Podcast Connect with Ashley: afrye@curesyngap1.org SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Supporting SYNGAP1 Siblings Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Pre-register for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 026 SYNGAP1 Stories, February 13, 2024 #SYNGAP1StoriesLibby #SYNGAP1StoriesEspy #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp26 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Family #Water #Music #SyngapConf #SYNGAP1Siblings #Caregiver #WinnieThePooh
Show Notes Living with SYNGAP1 can be challenging, but approaching it with a positive outlook is important. Listen to Jessica Johnson chat with Ashley to talk about her son Kai, who has SYNGAP1. They discuss iPads, music & guitars, finding your community, and more. See all episodes at Syngap.Fund/Stories. Kai's Warrior Story Connect with Jess: Instagram Instagram (Kai's account) Connect with Ashley: afrye@curesyngap1.org SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Supporting SYNGAP1 Siblings Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Pre-register for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 025 SYNGAP1 Stories, January 30, 2024 #SYNGAP1StoriesKai #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp25 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Music #Guitars #SyngapConf #Advice #RareAdvice #SYNGAP1Siblings #Positivity
Show Notes: We open 2024 where we left off in 2023 - great advice! Hilary Volz joins Ashley to talk about her son Brycen, who has SYNGAP1. They discuss Brycen's favorite (and not so favorite) Disney movies, genetic testing, severe behaviors, his super sibling Kallen, and more. See all episodes at Syngap.Fund/Stories. Brycen's Warrior Story Connect with Hillary: Facebook Instagram Other Episode Links: Fragile X Helen DeVos Children's Hospital Intensive Feeding Clinic Connect with Ashley: afrye@curesyngap1.org SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://curesyngap1.org/ SYNGAP1 Resources for Newly Diagnosed Families Supporting SYNGAP1 Siblings Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Pre-register for SYNGAP1 Conference 2024 Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Family Zoom Meeting (Weekly on Wednesdays, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Sibling Zoom Meeting (Monthly on 1st Thursday, 8PM ET): Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 024 SYNGAP1 Stories, January 9, 2024 #SYNGAP1StoriesBrycen #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp24 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Advice #RareAdvice #DisneyMovies #FragileX #SYNGAP1Siblings #ABATherapy
Show Notes: This is the Best Episode of 2023! Every SYNGAP1 parent had a story to tell Ashley and advice for others. This compilation has it all! Good advice is good at any time, no matter how many times you hear it, and this episode has a lot of advice that relates to all in the Rare Disease Community. We hope you enjoy, and if you've missed any episodes, you can see them all at Syngap.Fund/Stories. Please help us on Giving Tuesday so that we can continue our effort to find a cure for all who are living with SYNGAP1 - donate at https://Syngap.Fund/GT23 Follow Ashley Frye: afrye@curesyngap1.org SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 023 SYNGAP1 Stories, November 28, 2023 #SYNGAP1StoriesAshley #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp23 #Nathan #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Advice #RareAdvice #SRFGivingTuesday #GivingTuesday
Show Notes: It's been almost a year of SYNGAP1 Stories with Ashley Frye, and while Ashley buttons up plans for the upcoming SYNGAP1 Conference 2023, hosted by SRF, we have a special episode for you. While Ashley focuses on each episode's guest and their stories, she also shares anecdotes, opinions, and advice of her own, and we share snippets from the first 21 episodes here. We hope you enjoy, and if you've missed any episodes, you can see them all at Syngap.Fund/Stories. And…remember to send Ashley a belated Happy Birthday message: afrye@curesyngap1.org Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 022 SYNGAP1 Stories, November 14, 2023 #SYNGAP1StoriesAshley #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp22 #Nathan #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #HappyBirthday
Show Notes: This episode is dedicated to the upcoming SYNGAP1 Conference 2023, hosted by SRF. Pricing goes up after 10/31. Registration closes 11/8. Don't delay! Register now here! Special Thank you to our sponsors, including our Gold-level sponsors, Stoke Therapeutics / Acadia Pharmaceuticals! Book your rooms here Order T-shirts here Friday night Caregiver Dinner tickets here Lauren Perry - SRF Bio Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 021 SYNGAP1 Stories, October 31, 2023 #SYNGAP1StoriesConf #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp21 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #SyngapConf #Orlando
Show Notes: Nancy Kessler is an SRF BOD member, an active volunteer & advocate, and has hosted the SRF Gala honoring her sister Caren Leib for three years, including coming up on October 21, 2023. Caren is the oldest known person diagnosed with SYNGAP1. It is impossible to do justice to her 67 years on this planet, but luckily, Caren starred in her own movie, and Nancy has shared numerous other stories about her sister's life. We hope you enjoy this unique episode, then check out the links below to learn even more about this family that is so special to the SynGAP Research Fund community. Nancy's SRF Bio Caren's Warrior Story Celebrating Caren - 15-minute movie; 2-minute trailer; press release; Video of event held to launch Celebrating Caren Meeting Caren--Interview with SRF's Jess Duggan Blog post (Jess's SRF Bio) SRF Gala honoring Caren Leib - 2023 webpage; 2022 videos #1 & #2; 2021 summary; Happy 65th Birthday Caren! - Blog Post Follow Nancy: Instagram LinkedIn Facebook Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 020 SYNGAP1 Stories, October 17, 2023 #SYNGAP1StoriesCaren #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp20 #Caren #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #Behavior #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #CelebratingCaren #Gala
Show Notes: Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP' in Traveler's Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming! Julie's SRF Bio WSPA-7 News Video Scramble for SynGAP Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SynGAP Research Fund Apple Podcast Channel SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 019 SYNGAP1 Stories, October 3, 2023 #SYNGAP1StoriesMiller #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp19 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Scramble #ScrambleForSyngap #TheCall #Music #Swimming #Baseball #Spelling #Golf #Patience
Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children's Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is at times heart-breaking, but always heartwarming. Emmitt's Warrior Story Eating with Emmitt - Blog Post Flying & Seizing from Africa to Florida - Emmitt's Story Sydney's SRF Bio Follow Sydney & Brett: Instagram - @UFD_Tech Twitter - @SydneyStel & @UFDTech Facebook - Sydney YouTube - @UFDTech YouTube - Our Syngap Journey More links: Cannonball for the Cure Natural History Study at CHOP SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1 MDBR - Blog Post by Sydney Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 018 SYNGAP1 Stories, September 19, 2023 #SYNGAP1StoriesEmmitt #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp18 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Cannonball #CFTC #UFD
Show Notes Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia's progress, the joy she brings to the family, a new service dog, SRF's latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish. Amelia's Warrior Story & Instagram Post Vicky's Bio Follow Vicky: Instagram - @vickyart78 Instagram Fondo - @syngapamericalatina Twitter - @VickyAArteaga More links: Gomez Family Video (Spanish w/ English subtitles) Brain & Life Interview - Spanish & English Café SYNGAP1 Segundo Congreso Científico Syngap1 en Español Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 017 SYNGAP1 Stories, September 12, 2023 #SYNGAP1StoriesAmelia #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp017 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #ServiceDog
Meet J.R., a parent on a challenging journey. From aggressive behaviors to sensory challenges, she shares her struggles of raising a child with severe special needs. But just when things start to improve, an event occurs which leaves her questioning everything. You will not want to miss this story of resilience and uncertainty. In this episode, you will be able to: Gain insights into the journey of raising a child with significant special needs, and learn how to turn these experiences into growth opportunities. Discover the challenges in obtaining an early diagnosis and the role of perseverance in overcoming these hurdles. Understand the importance and the process of tailoring therapeutic interventions for your special needs child. Identify the importance of self-care and support networks for parents and caregivers of special needs children. Immerse in the raw and real-life narration of completing a book detailing a child's unique experiences. My special guest is J.R. Meet J.R., a remarkable woman whose world authentically embodies the complexities and nuances of parenting. An academic powerhouse, J.R. boasts a solid background in molecular biology and human genetics. But it's her real-life experience as a mother to three beautiful sons - one of whom has a severe diagnosis - that truly validates her expertise. Her middle son's journey with intellectual disability, seizures, autism, and behavioral challenges led to his group home placement from the age of twelve. J.R.'s dedication to understanding and improving the lives of children with complex needs manifests in her volunteering with the SynGAP Research Fund. Her candid accounts of becoming a parent, navigating the healthcare system, and learning to balance her family's varied needs radiate a contagious strength and resilience. The key moments in this episode are: 00:00:09 - Welcome to ChildLife on Call, 00:01:11 - Introduction of Jr. and her Family, 00:06:40 - Placing Her Son in a Group Home, 00:10:17 - Transitioning into Motherhood, 00:11:29 - Advocating for Her Son's Needs, 00:15:41 - The balance between love and fear, 00:16:29 - Therapy and transformation, 00:18:03 - Floor Time therapy, 00:22:26 - Wisdom of a child, 00:25:19 - Self-care and challenging cultural expectations, 00:30:48 - The Start of Challenging Behaviors, 00:32:36 - Underestimating Sensory Challenges, 00:34:22 - Reaching a Breaking Point, 00:36:14 - Fear and Relief in Getting Help, 00:45:46 - The struggle to finish the book, 00:46:15 - Joey's aging, 00:46:53 - Timing is everything, 00:47:32 - Gratitude for the community, 00:48:09 - Conclusion and resources Whether you are a parent or professional, we want you to join our community. Sign up for our newsletter here. Parents, download our free parent starter kit. When you download our starter kit, you'll learn how to: Give medicine to your child without it becoming a wrestling match Prepare your child (and yourself) for a shot so they can feel less anxious Create and use a coping plan for any medical appointment or procedure The first sign of sniffles, or worse, shouldn't send you into a tailspin. Feel confident in your role as a parent and advocate, no matter what medical situation you're facing. Child life specialists, get affordable PDUs on-demand here. Shop for your CLOC gear here. Feel empowered with Child Life On Call's Mastering Immunizations: Expert Tips to Prepare, support and respond like a Child Life Specialist Course for Parents, Child Life Specialist and Clinicians!
Show Notes Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure our community and those around us can prepare for these possibilities to the best of our abilities. Please, if you have a story to share, email us at ed@curesyngap1.org. Thank you for listening! Tony's Warrior Story Mike Graglia's Bio Mike & Ashley's Story SYNGAP1 Stories Episode 002 - Mike Graglia More links: Jackie Kancir's Bio Webinar - Severe Behaviors & Advocacy (with Jackie Kancir) Blog Post - Stella Stays In School: Getting Educational Needs Met Blog Post - A Message To The Newly Diagnosed SynGAP-1 Parent Webinar - Your teenager was just diagnosed with SYNGAP1, processing through a new lens Syngap Soirée Ashley's Soirée Video Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 016 SYNGAP1 Stories, August 30, 2023 #SYNGAP1StoriesTony #SynGAP #SYNGAP1 #SYNGAP1Stories #SYNGAP1Stories16 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #School #FirstDayOfSchool #NewSchool
Show Notes Samar Katnani, SRF Volunteer and Mom to 3-year-old Syngapian Reema, talks honestly about medications, sharing your story, self-help, anxiety associated with caring for Reema, fake crying, & much more. As with all SYNGAP1 Stories, this one gets very personal, and will benefit all of us, especially others caring for someone with a rare disease. Thank you for listening! Reema's Warrior Story More links: My Reema Epilepsy Awareness Day is Every Day for Us Now Augmentative and Alternative Communication (AAC) device Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 015 SYNGAP1 Stories, August 22, 2023 #SYNGAP1StoriesReema #MyReema #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #Grandparents #SelfCare
Show Notes: Suzanne Jones, SRF BOD chair & SYNGAP1 Mom, chats with Ashley about the upcoming Syngap Soirée fundraiser in Atlanta, caregivers, eating out (or not!), Jansen's behavioral issues as well as her recent speech improvements, and advice to parents to modify their expectations when receiving a rare disease diagnosis. Connect with Suzanne SRF BIO Facebook Instagram LinkedIn Jansen's Warrior Story Jansen's Journey More links: Syngap Soirée, Sparks of Hope - Atlanta, GA, August 26, 2023 Soirée - Instagram Soirée - LinkedIn Fundraising Article on Jansen in Variantyx TV Interview of Jones Family by 11 Alive, Atlanta Follow Ashley Frye: SRF Bio LinkedIn Facebook Instagram Nathan's Warrior Story SYNGAP1 Stories Episode 001 - Ashley Frye SRF & SYNGAP1 Info: What is SYNGAP1? Syngap Research Fund - https://syngapresearchfund.org Donate - https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike SYNGAP1 Conference 2023, hosted by SRF - Registration Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@curesyngap1.org Music: In the Forest... by Lesfm from Pixabay Episode 014 SYNGAP1 Stories, August 8, 2023 #SYNGAP1StoriesJansen #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Fundraising #Horses #HorseRiding #Caregivers
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107 RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing Family Video and Fundraiser: Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday SRF in the World: SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20 STUDIES ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS CORNELL English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020) Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082) CINEMAS STUDY - Mild Intellectual Delay https://cinemasstudy.com/#right_for_me PRESS Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah FUTURE EVENTS June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/ Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations - Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 PODCAST - Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010 Volunteer with SRF! Info@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 107 of #Syngap10 - June 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107 RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing Family Video and Fundraiser: Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday SRF in the World: SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20 STUDIES ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS CORNELL English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020) Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082) CINEMAS STUDY - Mild Intellectual Delay https://cinemasstudy.com/#right_for_me PRESS Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah FUTURE EVENTS June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/ Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations - Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 PODCAST - Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010 Volunteer with SRF! Info@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 107 of #Syngap10 - June 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events. SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead! Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00. Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449 Two blogs en Español https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147 https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145 STUDIES ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I Cornell study English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 SCIENCE 1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2 "Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease EVENTS June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9 June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ CONFERENCE Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: https://Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations Recently - Dr. Baptiste Lacoste - Involvement of the brain endothelium in neurodevelopmental disorders https://www.syngapresearchfund.org/webinars/76-involvement-of-the-brain-endothelium-in-neurodevelopmental-disorders-syngap1 PODS - Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008 - Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009 Volunteer with SRF! Info@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 106 of #Syngap10 - June 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
In today's episode, Heather Bench is a life coach specializing in special needs individuals and their families. Heather shares how she had noticed something was off with her daughter from birth and took her to the pediatrician for evaluation. Heather speaks about her journey as a parent of her daughter with autism spectrum disorder and intellectual disability and recently found out they were due to a rare genetic disorder called SYNGAP1, A disorder that affects the regulation of synapses in the brain. SRF stands for Syngap Research Fund, and February 28th is Rare Disease Day. Are you still in shock that you are a parent of a special needs child? This show is for parents who are morning the loss of the life and child they thought they would have. For parents who are tired, lonely, and see no hope in sight? You will learn how to deal with your non-verbal child with a sensory processing disorder, seizures, meltdowns, haircuts, and family trips. Embark on a journey of consciousness, self-care & meditation. My name is Chad Ratliffe. I am a single father of 5 kids 6 years of age (8-14) and 2 with special needs. 5 years ago, in a nasty divorce, my depression led me to drug addiction and hopelessness. Today, I share with others a life I never imagined possible. Subscribe Now and take back control of your life FACEBOOK: https://www.facebook.com/rebekah.quandt APPLE PODCAST: https://podcasts.apple.com/us/podcast/naked-parent-podcast/id1579108619 DONATE: https://www.patreon.com/thenakedparentpodcast WEBSITE:
Show Notes: In episode 6, we turn the tables on our host. Ashley talks about volunteering for SynGAP Research Fund, organizing the SYNGAP1 Conference 2023 hosted by SRF, and the first SynGAP Paddle Slap coming up on May 6 in Oxford, MS. SYNGAP1 Conference 2023, hosted by SRF - Hotel Reservations SynGAP Paddle Slap - https://Syngap.Fund/Paddle23 USA Pickleball The Oxford Park Commission The Farmstead, Oxford, MS Live Band - Rocket 88 Bounce Castles donated by Blue Line Inflatables Follow Ashley Frye: Facebook LinkedIn Instagram Nathan's Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan SynGAP Stories Episode 001 - Ashley Frye SynGAP Stories Episode 005 - Panda Panda's News Story: Nathan's Dog Cannonball For A Cure What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1 Syngap Research Fund: https://www.syngapresearchfund.org/ Donate: https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@syngapresearchfund.org Music: In the Forest... by Lesfm from Pixabay Episode 006 SynGAP Stories, April 18, 2023 #SyngapStoriesPaddleSlap #SRFConference #Pickleball #Volunteer #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
Show Notes: In Episode 5, Ashley talks with Cecilia Anastos, Founder and Lead Trainer of Meridus K9 & Equine LLC, providing service and emotional support dogs among other services. Panda was recently placed with the Frye family to be Ashley's son Nathan's service dog. In this episode, Cecilia answers the questions, “Can a service dog replace a human?”, “What are the most important things service dogs do?” and “Can service dogs save a child's life?” Reach Cecilia at: cecilia@meridusk9.com Website: www.meridusk9.com LinkedIn: http://www.linkedin.com/in/ceciliaanastos Previous SRF Webinars: Webinar #52 and Webinar #65 Panda's News Story: Nathan's Dog What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1 Syngap Research Fund: https://www.syngapresearchfund.org/ Donate: https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike Follow Ashley Frye: Facebook LinkedIn Instagram Nathan's Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@syngapresearchfund.org Music: In the Forest... by Lesfm from Pixabay Episode 005 SynGAP Stories, April 4, 2023 #SyngapStoriesPANDA #SyngapStoriesServiceDogs #ServiceDogs #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
Show Notes: In Episode 4, Ashley talks with SYNGAP1 Mom Kali Worth. Kali talks about missing milestones, epilepsy, genetic testing, expanding your community as a rare parent as well as the joys Kailyn (Kai) brings to her life. Kai's Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/kai Read Kali's SRF bio, blogs and a video of Kai's story here. Follow Kali on Twitter: https://twitter.com/WorthKali What is SYNGAP1: https://www.syngapresearchfund.org/home/what-is-syngap1 Syngap Research Fund: https://www.syngapresearchfund.org/ Donate: https://Syngap.Fund/Donate SYNGAP1 & Epilepsy Why Getting a Genetic Diagnosis Matters How to Get Free Genetic Testing Special Needs Trusts Connect with SRF (@curesyngap1): Facebook Twitter Instagram LinkedIn TikTok SYNGAP10 Weekly Video Podcast w/ Mike Follow Ashley Frye: Facebook LinkedIn Instagram Nathan's Warrior Story: https://www.syngapresearchfund.org/syngap-warrior/nathan Wednesday SRF Family Zoom Meeting: Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417 Comments: ed@syngapresearchfund.org Music: In the Forest... by Lesfm from Pixabay Episode 004 SynGAP Stories, March 21, 2023 #SyngapStoriesKAILYN #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can't help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss:Mike's experience as a patient advocate and his son Tony's diagnostic odyssey Elli's role as a genetic counselor in diagnosing SYNGAPHow SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)Sleep issues associated with SYNGAP and other symptomsThe prevalence of SYNGAP and why it's advantageous to identify 1,000 or more people with the conditionLabs and organizations that have been helpful in supporting the SYNGAP communityConnecting with fellow parents/caregivers who have kids with SYNGAPThe status of SYNGAP1 research and potential treatmentsMike's podcast, SYNGAP10You can learn more about Mike's family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I'm sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that's analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that's a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.
Brett Stelmaszek and two of his friends live-streamed their cross-country trip to raise money for their sons' rare genetic disease. Stelmaszek joins Pete McMurray and Jane Clauss to talk about how they were able to live stream the entire trip, what is it like being a social media influencer, and why all of the donations are going to the SynGAP Research Fund.See omnystudio.com/listener for privacy information.
Our guest this week is Mike Graglia of Palo Alto, CA. Mike and his wife, Ashley, are parents to two boys John (3) and Tony (8) who was diagnosed with SynGap 1, a rare genetic disorder. We'll learn about Mike's eclectic career including being a Peace Corps volunteer in Namibia, as well as working at: the World Bank, Boston Consulting Group, the Bill & Melinda Gates Foundation, Hewlett Packard Enterprise, New America, and Emerson Collective before jumping in full-time at the SynGAP Research Fund in a quest to find treatments and a cure for those who diagnosed with SynGap1. It's a fascinating story and one we'll hear this week on the Special Fathers Network Dad to Dad Podcast. Website – https://www.syngapresearchfund.org SynGAP 10 Podcast - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Email – mike@syngapresearchfund.com LinkedIn - https://www.linkedin.com/in/graglia/ Evans/Graglia YouTube Video – https://www.youtube.com/watch?v=lLO2hsAi4-M&t=37s Markings, by Dag Hammarskjold - https://www.amazon.com/Markings-Dag-Hammarskjold/dp/0307277429/ref=sr_1_1?crid=29SWGH2XQVPUY&dchild=1&keywords=markings+dag+hammarskjold&qid=1634252838&sr=8-1Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated. There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations. Special Fathers Network: https://21stcenturydads.org/about-the-special-fathers-network/Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/
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 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
#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
Purpose can come from anywhere. We often think of purpose as something that comes from something you love, but more often than not, purpose comes from the hard things in life. For example, today we are talking with Mike Graglia, who found a purpose through the struggle of being a child's parent with SYNGAP1. A rare disease where a specific protein is not created that is essential for nerve growth. It is so rare that it wasn't recognized in humans until 2009. Mike knew that information would be the key to advancing his and the medical community's understanding of this disease. So he started the non-profit SynGAP Research Fund to advance the research and treatments available for people with SynGAP1. His podcast, the SYNGAP10, is that purpose coming to life in a big way by providing listeners with the latest news each week in the community. Key Topics: · How did SYNGAP1 become a part of your life (1:06) · What are some issues with diagnosing the disease (2:42) · What challenges did Mike have starting a non-profit (4:20) · What has been some of the early impacts that foundation as had (6:33) · How did adding a podcast become the right next step for the foundation (8:54) · In what ways do you see the current structure of the podcast evolving (14:57) · Deciding if a daily briefing podcast is a right fit for your cause (16:06) Website: https://www.syngapresearchfund.org/syngap10-podcast (Link) Podcast Links: · https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 (Apple) · https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy81NDhhMTUwYy9wb2RjYXN0L3Jzcw (Google) · https://open.spotify.com/show/2qhQwMqDjflUAboaLoXjpi?si=e5a47796d4b942d5 (Spotify) Charity: SynGAP Research Fund (https://www.syngapresearchfund.org/ (website)) Donation: https://www.syngapresearchfund.org/donate/donate (link) Social Links · https://www.linkedin.com/company/curesyngap1/ (LinkedIn) · https://twitter.com/cureSYNGAP1 (Twitter) · https://www.facebook.com/cureSYNGAP1 (Facebook) · https://www.instagram.com/curesyngap1/ (Instagram) · https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A?sub_confirmation=1 (YouTube) Thanks for Listening! Be sure to subscribe onhttps://itunes.apple.com/us/podcast/causecasts/id1398644299?mt=2 ( Apple),https://www.google.com/podcasts?feed=aHR0cDovL2ZlZWRzLnBvZGlhbnQuY28vY2F1c2VjYXN0cy9yc3MueG1s ( Google),https://open.spotify.com/show/3hmQQrfFDPznEqEAEeRVm8 ( Spotify), https://music.amazon.com/podcasts/67ea3876-ad03-4d6f-814c-c5395544f5c6/Causepods?ref=dm_wcp_podcast_link_th (Amazon), or wherever you get your podcasts. And feel free to drop us a line at mathew@causepods.org. Follow Mathew on Social Media to stay up to date on Causepods – https://www.facebook.com/MathewPassy (Facebook) |https://twitter.com/MathewPassy ( Twitter) |https://www.instagram.com/mathewpassy/ ( Instagram) |https://www.linkedin.com/in/mathewpassy/ ( LinkedIn) For help, resources, and community support, please join thehttps://www.facebook.com/groups/causepods ( Causepods Facebook Group) if you are already producing podcasts for a cause or are thinking about launching one. And if you would like to be a guest on Causepods, please fill out this form and schedulehttps://bookme.name/thepodcastconsultant/lite/causecast-podcast-booking ( your chat here).
Mike Graglia is the Managing Director & Co-Founder of the SynGAP Research Fund (SRF - https://www.syngapresearchfund.org/), an organization that he set up in 2018 with his wife Ashley, after their son was diagnosed with a rare neurological disease caused by an insufficiency in SynGAP protein, which causes the life-changing diagnoses of Epilepsy, Autism, sleep disorder and intellectual disability. The mission of SRF is to improve the quality of life of SynGAP1 patients through the research and development of treatments, therapies and support systems. Previously, Mike worked at the Emerson Collective, New America Foundation, the Bill and Melinda Gates Foundation, BCG, the World Bank/IFC and the US Peace Corps/Namibia. During his time in Africa he created a small charity to fund girls' education. Mike graduated from Gonzaga University with a BS in mathematics. He then attended the Johns Hopkins School of Advanced International Studies (SAIS) and Columbia Business School.
Tune in for today's full episode of Few & Far Between. Episode 9 features Biorasi's Becky Knockemus, Zogenix, Inc.'s Dawn Blessing, and J. Michael Graglia from SynGAP Research Fund, discussing the importance of diagnosing #raredisease early and the critical step of sharing study data.
This week, we speak with Mike Graglia from the SYNGAP Research Fund about their efforts in advocating for this underdiagnosed genetic condition. Find out more about SYNGAP and the SRF at SyngapResearchFund.org.
Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org
© 2020-2025 Ivy Podcast Discovery LLC
