Accelerating Rare Disease Research Through Platform Innovation
Advancing the AHC prototype program
Two integrated initiatives for one powerful mission:
more therapies for more rare disease patients, more quickly.
A therapeutics-forward research program for Alternating Hemiplegia of Childhood, centered on patient priorities.
A platform approach to accelerate all rare neurological disease research and therapeutics development.
What we have accomplished
We’ve built a transformational research program. We’ve initiated multiple preclinical therapeutics development studies. We’ve assembled teams of best-in-field scientists. We’ve built an infrastructure of research resources and scientific tools. And, we’ve made a science of patient representation.
>25
Projects initiated.
All informative. 95% result in follow-on studies.
>40
Institutions and labs and over 80 scientists partnerships
$1 = $11
Our cost-to-impact ratio: Every dollar raised has enabled $11 dollars of research.
1100%
Return on our research investments, through partnerships and grants.
Addressing rare diseases one disease at a time isn’t efficient enough. Of the 10,000 identified rare diseases, only a tiny fraction have effective treatments. Too many patients are left waiting for therapies. Too many lives hang in the balance: 30% of children diagnosed with a rare disease die before their fifth birthday.
Seed funding to enable scientists to test hypotheses and establish “proof-of-concept” in novel, exploratory research, opening doors for large-scale government and institutional grants.
A FORCE representing patients
Centering research on patient priorities. Surveying patient priorities for informed advocacy. Integrating the patient experience into research. Bridging patient and scientist communities.
CATALYST for funding
Translating donations into many millions of dollars dedicated to funding new treatments, research resources, and technology.
We designed our research program to maximize the probability of success, combining a portfolio of the most likely therapeutics in development, a collaboration of top scientists, and a matrix of resource tools, including cell and animal models, biomarkers, and patient data. We’ve centralized research to accelerate it. We keep it focused on patient interests to advance patient outcomes. This model is replicable across rare diseases.
With its broad and representative spectrum of clinical features spanning many common neurological conditions like epilepsy, Alzheimer’s, Parkinson’s, autism, and stroke, AHC is an ideal starting point for an expanding platform to address similar neurological disorders. Shared symptoms, pathways, and processes make AHC a compelling target for scientific investigation. AHC models are already used in research studies on neurodegeneration, a pathology associated with common conditions like Alzheimer’s and Parkinson’s.
Related neurological disorders, particularly diseases caused by mutations in ion channel genes, overlap with AHC in pathomechanisms, pathways, biomarkers and symptomology. These areas of overlap create opportunities for common research, and can accelerate the development of interventions applicable to several diseases.
Eliminating redundancies and leveraging commonalities in research for rare neurological disorders can transform the pace of drug discovery and drug approval pipelines. Related rare diseases can use data, common tools like model systems, assays, and biomarkers, and even collaborative drug discovery efforts to move forward together, faster. The timing has never been better: AI can help unlock this common approach.
Most importantly, by leveraging efficiencies in research and therapeutics development, we can accelerate life-changing treatments for hundreds of thousands of patients with devastating neurological conditions.
