@pmsf_official

pmsf_official has been a member of Linktree for 2 years and joined in March 2024. Resources pmsf_official has populated their site with include: • Phelan-McDermid Syndrome Neuropsychiatric Illness Study • Phelan-McDermid Syndrome Healthcare Provider Survey to Gather Insights on Your Loved One’s Care Team • Every Inch Counts: Updates on the Inchstone Project with Drs. Natasha Ludwig and Jenny Downs • 2026 PMSF Family Conference - Abstract Submission • Survey on Resources for Clinic and Research Visits • Early Metformin Treatment in a SHANK3 Mouse Model - Phelan-McDermid Syndrome Foundation • Research study: Shank3B−/− pathophysiology: Early metformin treatment rescues behavioural deficits and normalises exacerbated mRNA translation - ScienceDirect • Welcome Robbie Baker: Getting to Know PMSF’s New CEO - Phelan-McDermid Syndrome Foundation • Rare Disease Day 2026: Raising Awareness for Phelan-McDermid Syndrome - Phelan-McDermid Syndrome Foundation • Pathways Education Series - Phelan-McDermid Syndrome Foundation • Giving Challenge: April 15-16 (noon - noon ET) • EMERALD Study Webinar • Blog Post - Updates on the PMS Natural History Study • Jaguar's Caregiver Study Webinar Sign-Up • Autism BrainNet - Ask Me Anything on Reddit • Home - CANDID • Register for CANDID/AGENDA Research Update on Zoom • Rare Epilepsy Network (REN) Stakeholder Activity, Experiences, Education, and Needs Survey • PMSF Facebook Live with CSO Dr. Lauren Schmitt • Praxis Precision Medicines • View 2026 family conference agenda • PMSF Welcomes Christopher Winrow, PhD, to Board of Directors – Phelan-McDermid Syndrome Foundation • NORD Clinical Research Webinar Registration • Upload Family Photos Here! • Podcast on Spotify - Autism BrainNet with Dr. Alycia Hallady and Lilliam Acosta • Phelan-McDermid Syndrome Awareness Day – Phelan-McDermid Syndrome Foundation • Parents Speak Inchstone Project • The Inchstone Project • Koala Study Website • ClinicalTrials.gov • ECHO Catatonia in Autism Playlist • ECHO Clinician Training Catatonia in Autism — National Council on Severe Autism • Medical Advisory – Catatonia and Neuroleptic Malignant Syndrome (NMS) – Phelan-McDermid Syndrome Foundation • ECHO PMS Neuropsychiatric Consultation Group – Phelan-McDermid Syndrome Foundation • Making the Ascent: Updates from the Natural History Study - 2026 PMSF Family Conference • PMS Datahub – PMSF Data Registry • Session Spotlight: Genetics and Gene Therapy - 2026 PMSF Family Conference • Ring Chromosome 22 – Phelan-McDermid Syndrome Foundation • DEEP | Developmental Epileptic Encephalopathies Patient Advocacy - DEEP | Community Connections. Transformative Outcomes. • Developmental and Epileptic Encephalopathies (DEEs) - Child Neurology Foundation • What Are DEEs? • Supporting Bereaved Families: Resources, Connection, & Research • Gene Therapy 101 Webinar Recap • 2026 PMSF Family Conference Video Playlist • 2026 Conference - Phelan-McDermid Syndrome Foundation • 2027 PMSF Research Grants Program Feedback Survey • Neuren Press Release 10/20/25 • Digital Medicine Society (DiMe) • Blue Meal GI Transit Informational Video • Survey to Explore Opportunities for Families in 2027 • Dr. Julia Dallman - 2023 PMSF Translational Research Grant Awardee Update • Chromosome 22q13 terminal deletion size is associated with relevant clinical features in a sample of 63 Italian patients with Phelan-McDermid syndrome | Journal of Neurodevelopmental Disorders | Springer Nature Link • Blue Meal GI Transit Study • Uncovering New Genotype-Phenotype Relationships in Phelan-McDermid Syndrome – Phelan-McDermid Syndrome Foundation • Epilepsy & EEG Abnormalities - 2024 PMSF Family Conference - YouTube • Welcome! You are invited to join a meeting: REP Info Session. After registering, you will receive a confirmation email about joining the meeting. • Medical Advisories for Phelan-McDermid Syndrome • Seizure Action Plan Templates • Jaguar Pilot In-Home Study • Webinar on EMERALD Study • The BEOND Study - Learn More Here! • Custom Ink Online Stores - PHELAN LUCKY • The BEOND Study - Sign-up Here! • Feeding Tube Awareness Week: Tell Others - Oley Foundation • @PMSF22q13 • Feeding Tube Awareness Week: How enteral nutrition fuels their patients | IU Health • The Phelan-McDermid Podcast | Spotify • PMSF CEO Opportunity - Development Guild DDI • NNZ-2591 ClinicalTrials.gov • Current Open Research Studies • Welcome to the Koala Study Website • NORD Blogpost • Shuting FitBit Study Research- Screener • 2026 PMSF Family Conference Session Topics • Giving Families a Voice: Building Meaningful Industry Relationships - The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope | Podcast on Spotify • Clinical Trials in Phelan-McDermid Syndrome – Phelan-McDermid Syndrome Foundation • Welcome Our New CEO • Giving Families a Voice: Building Meaningful Industry Relationships • Behavior, Cognition, and Beyond: Updates from the PMS Natural History Study • Current Open Research – Phelan-McDermid Syndrome Foundation • Rare Epilepsy Quality of Life (QoL) Survey • Lundbeck announces last patient randomized in DEEp OCEAN, a large Phase III trial in developmental and epileptic encephalopathies (DEEs) - H. Lundbeck A/S • PYC Therapeutics Webinar Q&A Infosheet • Developmental Milestone Study | Jaguar Gene Therapy • August 25, 2025 Neuren Press Release • Webinar - Help Advance Research in Phelan-McDermid syndrome • 2025 Shannon O'Boyle Memorial Grant Recipient • Custom Ink Online Stores - 1/2 Way To St. Pat's Day - Phelan Lucky 2026 • Driving Research Breakthroughs - Phelan-McDermid Syndrome Foundation • 2026 PMSF Family Conference - End of Session Survey • Jaguar Gene Therapy Updated FAQ 9/22/25 • 2026 PMSF Family Conference Survey • Phelan-McDermid Syndrome Awareness Day • Join PMSF – Phelan-McDermid Syndrome Foundation • Home - Phelan-McDermid Syndrome Foundation • SHANK3 Inform Genetic Program • Jaguar Gene Therapy Updated FAQ 9/18/25 • PYC Update at 2026 PMSF Family Conference • Catatonia and Severe and Challenging Behaviors Webinar Recording • Medical and Scientific Glossary – Phelan-McDermid Syndrome Foundation • Updates on the 2024 PMSF Research Grants • Jaguar Gene Therapy Statement & FAQ *UPDATED 7/8/26* – Phelan-McDermid Syndrome Foundation • PMSF Team Update: Moving Forward with Purpose • PMSF | Official Merchandise | Bonfire • Immersive Genetics 101 - 2024 PMSF Family Conference • Updated Prevalence - Levy et al., 2026 • Catatonia Web Series Registration • Lug's Conference Involvement & Discount Code • Neuren Pharmaceuticals Update 5/13/25 • Autism BrainNet • 2024 Family Support Survey • The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope • PMSF Website • PYC Therapeutics Community Webinar Takeaways • Give your gift today! - PMSF Donation Page • Update from the MAC: Understanding Mortality in Phelan-McDermid syndrome • Custom Ink Online Stores - 1/2 Way To St. Pat's Day - Phelan Lucky 2025 • 2026 PMSF Family Conference Whova App • Neuropsychiatric Illness in PMS Kohlenberg 2024 • DEE-P Understanding ASOs and Informed Consent Webinar Registration • Gastrointestinal Disorders - 2024 PMSF Family Conference • PYC Therapeutics Webinar Takeaways – Phelan-McDermid Syndrome Foundation • PYC Therapeutics Webinar - Zoom Link • Dr. Sue Fletcher and Dr. Rebecca Simmons - Development of an RNA therapeutic for Phelan-McDermid syndrome - The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope | Podcast on Spotify • Jaguar Gene Therapy's Statement 4/29/25 • Neuren's Koala Study Website • Conference Updates from Dr. Lauren • 9th Annual Team Matthew Luis Fundraiser for PMSF – Phelan-McDermid Syndrome Foundation • Overview of Clinical Trials - 2024 PMSF Family Conference • 2026 PMSF Family Conference Agenda – Phelan-McDermid Syndrome Foundation • Publication update: What are “Mini-Brains”? • Blog Post - Potential Blood-Based Biomarkers • PMSF | Workplace Donations • New Publication - Novel Blood-Based Biomarkers • Diane Joins Conference in Barcelona • Pathways Education Series • The Diagnostic Odyssey: Delays in Diagnosing Phelan-McDermid Syndrome • Jaguar - Developmental Milestone Assessment • Webinar on Jaguar's Developmental Milestone Assessment • Breaking Down NIH Funding for Researh • Dr. Pilar Trelles and Tess Levy - 2024 Shannon O'Boyle Memorial Neuropsychiatric Illness Awardees • New Blog! Neuroinflammation in Shank3 mice • Epilepsy Surgery Alliance Power Hour Webinars • D.E.E.P. D.I.V.E. Webinar Registration • Antisense Oligonucleotides – what are they and why are we hearing more about them? • Register for the Gene Therapy 101 Webinar • 2025 PMSF Impact Report • Caregiver Support Groups • PMSF Store - Shop Now - June 2-22 • Current Open Research - Phelan-McDermid Syndrome Foundation • Gene Therapy 101 Survey • BILLY Footwear | Fashion and Function For All • Natural History Study • Seizure & Epilepsy 24/7 Helpline • How are Phelan-McDermid Syndrome and Autism Related? - Phelan-McDermid Syndrome Foundation • Seizure Action Plan • Jaguar Gene Therapy | Accelerating breakthroughs in gene therapy. • From Awareness to Action: Advocacy for Our Phelan-McDermid Syndrome Community • The First Multidisciplinary Phelan-McDermid Syndrome Clinic Opens at Cincinnati Children’s - Phelan-McDermid Syndrome Foundation • Meet Ashlyn Brunet A World Record Story - Issuu • WINGS Study Interest Form • www.rareacrossamerica.org • HOME | WINGS Study • Family Reviewer Interest Form for Research Requests • ECHO PMS Neuropsychiatric Consultation Group - Phelan-McDermid Syndrome Foundation • U.S. Senate: Contacting U.S. Senators • Clinic and Research Visit Ready: New PMSF Resources for Families - Phelan-McDermid Syndrome Foundation • Family Reviewer Interest Form for PMSF Grants • Home - PYC Therapeutics • Raising Hope Through Movement Toolkit • Neuren Pharmaceuticals • Ask Your Questions - Gene Therapy 101 • Jaguar Gene Therapy Announces Successful Completion of Dosing of First Patient Cohort in Clinical Trial Evaluating JAG201 for the Treatment of a Leading Monogenic Cause of Autism Spectrum Disorder Known as Phelan-McDermid Syndrome | Jaguar Gene Therapy • Make Your Raising Hope Gift Today! • Jaguar Gene Therapy FAQ *UPDATED 2/23/26* • Dr. Kristy Johnson - 2024 PMSF Innovation Grant Awardee Update - Part 2 • Endpoints News Article on JAG201 • PYC Press Release Update 12/30/24 • Empowering Patients 2026: A Cell and Gene Therapies Summit | ASGCT • The Phelan-McDermid Podcast: Sharing Research, Progress, and Hope with Dr. Bridgette Moffitt • Consensus Recommendations on Epilepsy in Phelan-McDermid syndrome • Phelan-McDermid Syndrome Foundation | Workplace Donations • Neuren's Press Release 2/6/26 • Upload Photos of Your Loved One • PMSF 2023 Grant Update • Understanding Mortality in Phelan-McDermid Syndrome • Professionals 2026 PMSF Family Conference Registration • February Pathways Education Series Registration • Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies | Quality of Life Research | Springer Nature Link • Custom Ink Online Stores - Phelan Lucky 2025 • NNZ-2591 Publication • Ad Hoc Group 119th Congress Letter 1.31.pdf • Blog Post: NNZ-2591 Phase 2 Results • PMSF 2025 Grant Opportunities • Medical Advisory - Very Rare Leukodystrophy - Phelan-McDermid Syndrome Foundation • TakeAction: Medicaid Is a Lifeline for People With Disabilities! • Overview of Clinical Trials at the 2024 PMSF Family Conference • PYC Therapeutics Webinar 3/13 @ 7pm ET • Why Sharing Clinical Trial Experiences Can Harm Research - Phelan-McDermid Syndrome Foundation • Medical Research Fund - Roll Call • Blog: Why Nutrition Matters in Phelan-McDermid Syndrome - Phelan-McDermid Syndrome Foundation • Science and Research Administrator Job Description • Nutrition Guidelines - Phelan-McDermid Syndrome Foundation • Communication Survey • Pathways Education Series: Nutrition and Phelan-McDermid Syndrome • PMSF Chief Executive Officer (CEO) Job Posting • Neuren's Phase 3 NNZ-2591 Trial - Blog Post • Vote for the Name of Our Podcast • Neuren’s Phase 3 NNZ-2591 Trial - Infosheet • Sleep and Sensory Research Survey • Updates on the PMS Natural History Study - Phelan-McDermid Syndrome Foundation • New Family Webinar (for new & long-time PMSF members) • WINGS Study Information • Start a fundraiser • 2024 PMSF Conference Recordings • Vaccinations - Phelan-McDermid Syndrome Foundation • Mount Sinai and Sinergia Webinar: Navigate the Autism Evaluation Process • Epilepsy and Seizure Update from the Natural History Study - Phelan-McDermid Syndrome Foundation • PYC Therapeutics Update • Jaguar Gene Therapy FAQ Update 10/22/25 • American Epilepsy Society’s Medication Access Survey • Statement from Jaguar Gene Therapy 10/22/25 • UNSEEN Documentary | 2024 Family Caregiver Month Screening • Make your Driving Research Breakthroughs gift today • C.A.R.E Binder (Caring for Adults with a Rare Epilepsy) • PYC Update Video • Epilepsy Awareness Month Resources • PYC Press Release • PMSF 2024 Grant Award Recipients • GeneDx has announced its new Autism Partnership Program with Jaguar Gene Therapy • DEE Community Update • The Phelan-McDermid Syndrome Podcast with Jaguar Gene Therapy • Jaguar Gene Therapy - Pediatric Clinical Trial Update • Catatonia and Severe and Challenging Behaviors SIG - YouTube • Genotype-Phenotype Research Publication • How PMS is Diagnosed - Phelan-McDermid Syndrome Foundation • CANDID Publication • "First 100 Days" - Phelan-McDermid Syndrome Foundation • Drugs in Development • Phelan-McDermid Syndrome Clinics • Jaguar Gene Therapy Community Letter & FAQ • Celebrate & Support PMSF • Jaguar 7/11 Webinar Recording • Phelan-McDermid Syndrome Natural History Study Webinar • PMSAD Photo Frame 2024 • Additional Findings in Phelan‐McDermid Syndrome Publication • Convos with Dr. Kate PODCAST • Gene Therapy 101 Webinar Recording | Hosted by PMSF & ASGCT • Caregiver Quality of Life Survey • Diagnosing the Undiagnosed: PMSF Partnering with BioLogic Pharma Solutions to Help Improve SHANK3 Testing • SUDEP Action Day • PMSF New Family Webinar • 2024 PMSF Conference Survey • Class I vs Class II Deletions: What's the Difference? • SHANK3 in Phelan-McDermid syndrome • Mount Sinai Webinars • Phelan-McDermid Syndrome Datahub • FAAST Webinar for August • AAC Webinar with Kate Ahern • Clinical Care Guidelines • Clinical Trials Webpage | Past Trials • ICD-10 Code • Complex Behavior Medications Resource • Child Neurology Foundation "Unseen" Documentary • How are Phelan-McDermid Syndrome and Autism Related? • Jaguar Community Poll • Parent/Sibling Research Study Survey • New Science & Research Webpages • Family Participation in Research Webpage • Sam's Sibs Stick Together Room • Lennox-Gastaut Syndrome Awareness on Today Show • Jaguar Gene Therapy Poster ASGCT 2024 • Giving Challenge - April 9&10!