activities · 5
what they do
advocacy · 1
- Advocacy for Childhood Brain Disorders Pediatric Neurological Autoimmune Disorder Research and TreatmentThe organization conducts advocacy efforts to address epilepsy and other brain disorders in children.
research · 3
- Collaborating with the University of Arizona Hammer Lab Pediatric Neurological Autoimmune Disorder Research and TreatmentThe organization collaborates with the University of Arizona Hammer Lab to support children with SCN8A-related disorders, expand understanding of the global SCN8A community, and conduct extensive research to find cures for SCN8A, other forms of epilepsy, and childhood disorders.
- Funding Research for Neurological Disorders Pediatric Neurological Autoimmune Disorder Research and TreatmentThe organization funds innovative research to advance therapies and develop new treatments for epilepsy and other childhood brain disorders, with a specific focus on SCN8A-related disorders, aiming to improve current therapies and reduce side effects.
- Sponsoring the SCN8A Registry Rare Disease Research Funding and CoordinationThe organization sponsors the SCN8A Registry, a scientific data collection platform that gathers patient-reported information to advance the understanding of SCN8A-related epilepsy, generate crucial data, and identify disease features for drug development.
capacity building · 1
- Identifying Clinical Trial Participants Rare Disease Research Funding and CoordinationThe organization identifies doctors and clinics suitable for participation in clinical trials for SCN8A-related conditions.
strategies · 3
how they think
Theories of action extracted from this org's own source material. Click any to see the full field of orgs running the same approach.
- Awareness and collaborative network building awareness_and_data_collectionThe organization increases epilepsy awareness through advocacy, community education, and sharing personal narratives. It also builds collaborative networks with community organizations and support groups to enhance research and treatment development, and connects affected families globally.
- Funding scientific research for treatment development research-driven treatment developmentThe organization funds scientific research to understand the fundamental mechanisms of brain function and discover new treatments for epilepsy and brain disorders, with a focus on improving children's quality of life. This includes targeting underlying biological processes, exploring integrative medicine approaches, and utilizing various research models like genetic animal models and iPSC models.
- Patient-engaged research and data collection patient-engaged researchThe organization engages families and children with epilepsy in medical research through registry-based data collection to accelerate the development of more effective treatments. This also involves collecting critical data to support families, clinicians, and researchers, and applying machine learning to patient registries for clinical management.
named programs · 5
what they call their work
Animal Models
Research utilizing animal models, particularly mouse strains with genetic mutations known to cause seizures in humans (e.g., SCN8A gene mutations), to understand epileptogenesis and identify potential therapeutic agents.
Functional Studies
Research focused on uncovering the effects of changes in molecules, ion channels, and brain cells in epilepsy and brain disorders, including the study of ion channel mutations and their impact on neuronal activity.
Integrative Treatment Research
Supporting scientific research into both conventional and alternative therapies for epilepsy, including natural products, nutraceuticals, and approaches like the ketogenic diet, to find new and effective treatments.
Neuronal Cell Lines (iPSC)
Research using induced pluripotent stem cells (iPSCs) derived from patients to create human models of epilepsy in the laboratory, allowing for the study of disease mechanisms in the context of a person's unique genetic makeup and for testing drug effects on human brain cells.
Omics
Research employing next-generation laboratory tools to study DNA, RNA, and protein data from cells to understand the molecular makeup and cellular pathways underlying childhood epilepsy and brain disorders, aiming to identify abnormal processes and new biomarkers.
relationships · 12
who they work with
- Arizona Public Media Partner — Produced a video about Shay's story.
- BIO5 Institute Partner — Listed as a contact location for the organization.
- Joseph Watkins Partner — Primary collaborator with the Hammer Lab, professor in the Department of Mathematics and Director of the Data Sciences Academy.
- Octavia Digital Media Partner — Designed the organization's website.
- SCN8A International Patient Registry Partner — Joshua Hack applies machine learning techniques to this registry.
- SCN8A.net Partner — Hosts the SCN8A Registry sponsored by SEHRF for data collection and research on SCN8A-related epilepsy.
- University of Arizona Partner — Dr. Hammer was the Director of the University of Arizona's Genetics Core and received approval from the University to conduct research.
- University of Arizona Partner — Listed as a contact location for the organization.
- University of Arizona Partner — Michael Hammer's research began here in 1991; several lab members are current or past students/graduates.
- University of Arizona Hammer Lab Partner — Collaborates with SEHRF on research and registry efforts for SCN8A-related disorders.
- University of Arizona, R. Ken Coit College of Pharmacy Partner — Taylor Lynn Camacho is an undergraduate student majoring in Pharmaceutical Sciences.
- University of California- Los Angeles Partner — Joshua Hack will pursue a Ph.D. in Genetics and Genomics there starting in Fall 2024.