Scaling Rare Innovation Model

RARE Hope is dedicated to accelerating cures for rare neurological disorders. We work to build a future where rare disease research advances collaboratively, powered by data, common preclinical resources, and standardized processes.

Inputs

Donor and grant funding
Scientific expertise dispersed across related disorders
Patient registries
Published natural history
Partnerships with researchers and institutions
Cell and animal modes
WGS data from as many patients as possible

Activities

Target a logical cohort of related disorders to prove the concept
Develop joint research across channelopathies and dismantle silos
Host joint symposia, think tanks
Conduct joint advocacy/lobbying
Publish Whitepaper and standard process recommendation documents
Design combined clinical trials

Outputs

Research studies and preclinical trials initiated
Development of new tools and resources (e.g., patient registries, biomarkers)
Increased collaborations and partnerships with global institutions

Outcomes

More therapies accessible to patients
Accelerated therapeutics development for AHC and other rare neurological diseases
Increased understanding of shared mechanisms across diseases
Stronger advocacy for rare disease patient
Review of regulatory policies that limit access to therapies

IMPACT

Improved health outcomes for patients with rare neurological diseases
Scalable, replicable research models benefitting broader rare disease communities
Systemic change in the rare disease research ecosystem, leading to faster and more cost-effective discovery and approval processes

We bring a powerful set of tools and resources to establish a new model of interconnected, accelerated rare disease research. Robust collaborations with research institutions and commercial labs, a solid research infrastructure, and reliable tools like cell and animal models are already in place.

With additional investment, we are well-positioned to implement our vision for accelerating rare disease research by:

Targeting a cohort of related disorders. Channelopathies and other diseases linked to ion channel genes can be investigated together. This approach leverages a critical mass of research, and amplifies research impact for a much larger population of affected patients. Common mechanisms and common pathways suggest potential targets for common research. AI capabilities for data analysis exponentially expand opportunities to capitalize on these commonalities.
Dismantling silos. RARE Hope has worked to dismantle silos in research for a single disease. Dismantling silos between diseases remains a priority, with a big potential payoff. Shared findings, methods, and tools across disease communities can spark new ideas for direction and innovation, and accelerate research collectively. Symposia and think tank meetings connect groups.
Amplifying the voice of rare patients. Advocacy efforts to support scale in all stages of rare disease research—from assembling research tools to approving therapeutics—are critical. We are working to advance systemized rare processes, streamline regulatory processes, and address clinical trial bottlenecks, and to present a convincing case to regulators, encouraging them to think expansively and adopt ambitious solutions.
Standardizing tools and processes. A systematic approach, supported by standardized tools and processes, drives efficiency, scalability, and speed in rare disease research and therapeutic development. Scientists can pursue comparative or joint studies if the inputs are standardized. RARE Hope’s process documents, developed in collaboration with other disease groups, regulators, and pharma, provide a framework. Lobbying efforts to streamline approvals for genetic therapies provides a complementary path to increase patient access.
Considering Combined Therapeutics Investigation for Multiple Mutations, Genes, Disorders. Evaluating repurposed drugs, compounds and molecules for multiple conditions in parallel will be informative and may accelerate access of more patients to more therapies.
Using data as a Rosetta Stone of human biology: Enabled by layers of phenotypic data gathered through patient-reported surveys, we can use whole genome sequencing to map the spectrum of ATP1A3 disorders and related channelopathies. More broadly, layered data for monogenic diseases provide a map of human function and dysfunction. The power of high-quality data, analyzed across diseases, increases significantly as the dataset grows. With AI-powered analytics, the potential value in patient data is enormous.

Together, these efforts will enable an ever-expanding portfolio of new research studies and clinical trials, and the development of additional tools and resources. As we demonstrate the value of standardization and systemization, we will encourage more diseases to adopt the same processes, enabling more cross-comparisons. As the mapping of genotypic and phenotypic data uncovers novel findings about background genetics and symptom presentation, we can grow the dataset. As we collaborate with a more diverse international network of collaborators, we can incorporate the perspectives of scientists and patients from across the world.

The outcomes we seek? More therapies accessible to more patients, more quickly, across more disorders. Deeper and more comprehensive understanding of the molecular and systemic mechanisms of genetic disorders and their associated symptoms. More precise targets for interventions and streamlined paths to drug approvals, from drug discovery to clinical trials.

A stepwise approach to multi-disease research. A replicable, scalable model for rare disease research. A transformation of the rare disease ecosystem.

Most importantly, the systemic impact we seek would transform the lives of millions of rare disease patients.

This is our vision.