Webinar recap: Citizen Health + Team Telomere - your story. Your data. Its power. Thank you to everyone who joined its community webinar on Citizen Health in August 2026! Katie Stevens, Team Telomere CEO, and community parent Jena Robertson explained how the Citizen Health platform helps families gather their own medical records and use them, and how sharing de-identified data can speed up research on telomere biology disorders (TBDs). Here are the main points from the session. Why this matters now. The TBD field is starting to advance therapies, but data on TBD patients is still limited. Health records are scattered across many institutions, patient portals and third-party sites, including social media groups where the platform, not the patient, ends up owning what's posted. Research data is usually collected one project at a time and only reflects the patients at a single academic center. Team Telomere partnered with Citizen Health because Team Telomere believe your data should belong to you. Your data should work for YOU first. Citizen Health gathers your electronic health records from different institutions into one place. Once your records are organized, they can help you: * Prepare for appointments and summarize your medical history for new specialists * Track symptoms, medications and major events over time * Support insurance appeals, school plans (IEPs), disability paperwork and second opinions ...and then for the community. Early results from its community. Members can choose to share de-identified data for research. Data that identifies you is never shared, and research use has to be approved by an Institutional Review Board (IRB). Pooled data like this builds natural history studies, which show how TBDs begin and progress, which organs are affected, how different genes shape disease, and where diagnosis or care could be better. Any future drug or therapy will need this kind of study. * 49 participants are already in Team Telomere's proof-of-concept dataset. * Several TBD genes are represented. As expected, TERT is the most common, followed by RTEL1, TERC, TINF2, DKC1, PARN and NHP2. Participants without an identified gene are included too, which matters because about 20-30% of TBD families still don't have a gene identified. * Team Telomere received a grant to run a full natural history study with participants, starting with a first cohort. * Researchers have been very excited about pooling data across many institutions instead of relying on a single center's cohort. This includes groups working on screening studies and multi-center research. Katie also described a possible study: asking community members who have had a bone marrow transplant to share their outcomes. This could help show the long-term results of transplant protocols. AI Advocate ("Ari"). Jena shared how she uses Ari, Citizen Health's AI Advocate, to care for her child. Ari can draw on your own records to: * Draft insurance appeal letters * Explain the diagnosis in plain language, including for siblings * Send relevant new articles on topics you've asked about * Keep your search history so you can come back to it later You can reach Ari in the Citizen Health app, on the web or by text. Transcribing appointments. The app can record and transcribe visits, both in person and telehealth. It labels who is speaking, and you can ask Ari follow-up questions about the transcript, such as "what was the medication they mentioned?" You can delete transcripts at any time. Tell your care team before you record. Points addressed in the Q&A: * No Android app yet. The mobile app is iPhone/Apple only for now. Android users can still use Citizen Health on the web, and Team Telomere has passed this feedback to Citizen. * Records don't refresh automatically yet. After your first sign-up, ask Citizen to re-request your records after new visits. Automatic updates are planned for next year. * Privacy and control. Citizen Health is HIPAA compliant. You decide what you share, and you can withdraw at any time. * Helping other communities. Citizen Health was built for pediatric neurodevelopmental disorders. Team Telomere is the first community on the platform that spans ages and organ system manifestations, so Team Telomere is helping expand what it can do. * Citizen's support team usually answers within about an hour, so reach out to them with technical questions!

CURE SYNGAP1 partners with Global Genes, Kielo Research and Citizen Health to launch Economic and Humanistic Burden Study - PR51. Posted on: October 20, 2026 Mill Valley, CA - October 20, 2026 - As therapies for SYNGAP1-Related Disorders (SRD) advance toward clinical development, sponsors, regulators and payers will need evidence the field doesn't yet have: a rigorous accounting of what the condition costs patients, families and the health system. Today, CURE SYNGAP1 announced a program to close this gap, launching a comprehensive Economic and Humanistic Burden Study in partnership with Global Genes, Kielo Research, and Citizen Health. The study will examine the broader impact of SRD on patients, caregivers and families, including quality of life, caregiving, independence, education, employment and the financial impact on families. It is the first major evidence initiative under REACH SYNGAP1, CURE SYNGAP1's new community-driven consortium. While significant progress has been made in understanding the clinical characteristics of SRD, much of what patients and families experience every day is not fully captured by traditional clinical measures. This study is designed to help close that gap and provide data that can support future discussions with regulators, payers, policymakers and others involved in therapy development and access. The partnership builds on relationships and research infrastructure that CURE SYNGAP1 has developed over several years. CURE SYNGAP1 has a long-standing partnership with Global Genes and uses Global Genes' RARE-X research platform for SYNGAP1 ProMMiS, its prospective natural history study. The organization also works closely with Citizen Health on its retrospective natural history study. A significant number of SYNGAP1 families already participate across these platforms. With the new partnership between RARE-X and Citizen Health, CURE SYNGAP1 sees an opportunity to build on its community's existing participation rather than creating another disconnected research effort. The combination creates a stronger foundation for engaging families, connecting different types of patient data and supporting future studies as the SYNGAP1 research landscape continues to evolve. The new study will adapt an existing caregiver burden survey developed for Angelman syndrome (Jarvis et al., Orphanet Journal of Rare Diseases, 2025) to reflect the specific experiences and needs of the SYNGAP1 community. The initial SYNGAP1 study in the U.S. is expected to include at least 125 SYNGAP1 caregivers, with families directly involved in the development and testing of the survey. "SYNGAP1 is a devastating disorder that affects nearly every part of a patient's and family's life," said Virginie McNamar, President and COO of CURE SYNGAP1. "It causes seizures, limits communication, interrupts sleep and severely limits independence, but it also affects education, employment, caregiving, family finances, and quality of life. Our families live this reality every day, but we need the data to show it. As treatments advance, we need to be able to clearly demonstrate the full burden of SYNGAP1 and what meaningful improvement can mean for patients and families." Mike Graglia, Founder & CEO of CURE SYNGAP1 added, "We are thrilled about this partnership. Global Genes, RARE-X, and Citizen Health are all trusted partners. They know the SYNGAP1 community well, and we know they are committed to making this study successful. Also, our families know both RARE-X and Citizen Health. More than half of our known U.S. population is already enrolled across these platforms. Together we will build the RWE we need to advocate for SYNGAP1 families." Global Genes will lead the study, including survey development, family engagement and data collection through the RARE-X research platform, while Kielo Research, a Sanius Health company, will provide health economics expertise in survey methodology and statistical analysis. Kielo's leadership has been consulted by the U.S. Food and Drug Administration, the UK's National Institute for Health and Care Excellence (NICE), and the European Commission, and its team brings deep experience in patient-centered outcomes research with more than 200 peer-reviewed publications. "Proving that a therapy works is only part of the challenge. For a disease like SRD, the impact includes caregivers' mental health, family stability and household finances- data that payers will need to make coverage decisions," said Karmen Trzupek, Senior Director of Scientific Programs at Global Genes. "As therapy developers know, that evidence must exist before a new drug reaches the market. The evidence can't be generated quickly enough afterward to prevent coverage delays. CURE SYNGAP1 is building it now, so families aren't left waiting." Charlene Son Rigby, CEO of Global Genes added: "CURE SYNGAP1 is turning lived experience into evidence that regulators and payers cannot overlook. As the parent of a child with STXBP1 neurodevelopmental disorder, I know that the true burden rarely shows up in a clinic visit. It shows up at three in the morning, in the toll on family finances, in the strain on a caregiver that never gets a break. Families have carried this weight quietly for far too long. Developing this evidence precompetitively is an important strategy so multiple companies can use it; this is a model for rare disease foundations." The study is expected to produce a comprehensive report, peer-reviewed manuscript, scientific conference abstract, and poster, helping ensure the findings can be used broadly across the scientific, regulatory, and patient advocacy communities. About REACH SYNGAP1. REACH - Regulatory, Evidence, Access, Community Empowerment, and Health Policy - is a community-driven, precompetitive program led by CURE SYNGAP1. REACH was created to address an important challenge: much of the true impact of SRD on daily life, independence, families, caregiving and economic burden is not fully captured by traditional clinical measures. The program works with the SYNGAP1 community to identify what matters most, generate credible evidence around those experiences, and ensure the patient and caregiver's voice is represented in decisions that affect the community. Through its five workstreams, REACH will bring together families, researchers, clinicians and industry partners to advance patient-informed regulatory engagement, generate evidence on disease burden and meaningful outcomes, prepare for future access and reimbursement needs, empower families to advocate effectively, and advance health policy priorities. Current REACH priorities include the Economic and Humanistic Burden Study and a Patient Listening Session with the U.S. Food and Drug Administration scheduled for April 2027, along with continued work on patient-focused outcomes and family advocacy. About Global Genes. Global Genes is a 501(c)(3) non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients, their families and disease communities globally. For nearly two decades, SynGAP Research Fund, Inc. has equipped rare disease patients and advocates with tools, training, and support - to connect patients with needed resources, activate communities, and advance research. Global Genes serves the more than 400 million people around the globe, including nearly one in 10 Americans, affected by rare diseases. With over 890 patient advocacy group members in its Global Advocacy Alliance, SynGAP Research Fund, Inc. work with patient advocates, industry partners and academia to build vital ecosystems to progress critical work in rare disease. Learn more at globalgenes.org. About Kielo Research. Kielo Research, a Sanius Health company, is a life sciences consultancy with deep expertise in patient-centered outcomes research across rare and chronic diseases. Its work spans burden-of-illness studies, patient preference research, development of clinical outcome assessments and real-world evidence generation. Kielo's scientists have authored more than 200 peer-reviewed publications, contributed to regulatory, health technology assessment and payer submissions, and conducted studies in more than 30 countries. Learn more at kieloresearch.com. About SYNGAP1-Related Disorders (SRD) SYNGAP1-Related Disorders (ICD-10 F78.A1) are a rare genetic disorder caused by variants on the SYNGAP1 gene that reduce SYNGAP1 protein levels. CURE SYNGAP1 has identified over 1,871 SRD patients to date, and the number grows weekly. This protein acts as a regulator in the synapses (where neurons communicate with each other). When SYNGAP1 protein levels are too low, SynGAP Research Fund, Inc. see an increase in excitability in the synapses making it difficult for neurons to communicate effectively. This leads to many neurological issues seen in SRD patients. Symptoms of SRD include primarily neurological issues including autism spectrum disorder (ASD), global developmental delay leading to intellectual disability, epilepsy, hypotonia (low muscle tone), gross and fine motor delays, and visual abnormalities such as strabismus (crossed eyes) as well as disordered sleep and gastrointestinal challenges. About CURE SYNGAP1. Founded in the US in 2018 as a 501(c)(3) public charity, CURE SYNGAP1 is dedicated to accelerating the availability of safe, effective, disease-modifying treatments for everyone living with SYNGAP1-Related Disorders (SRD). By working closely with patients, clinicians, researchers, and regulatory authorities, SynGAP Research Fund, Inc. ensure clinical programs are scientifically rigorous and responsive to its community's lived experience. Completely family-led, CURE SYNGAP1 is a leading funder of SYNGAP1 research having committed over $9 million in research grants to drive progress toward a cure. You can learn more about CURE SYNGAP1 and their accomplishments by reading their most recent Impact Report.