Our Strategy
Our approach is built on two core principles: (1) establishing a patient-centered hub to accelerate research and therapeutics development (2) implementing a broad portfolio strategy to advance multiple therapeutic pathways in parallel, while simultaneously building a support infrastructure of research tools and foundational science.
1
A hub to centralize, grow, and accelerate research. A patients-as-partners model to center research on patient priorities.
Key to the AHC program is centralization around a patient hub. Together, patient representatives partner with researchers to keep research centered on patient priorities across all stages of research, from basic science to clinical trial design.
Patient advocates have proven to be the most influential stakeholders in advancing therapeutics development for rare diseases. They play a pivotal role and drive the success of a rare disease R&D program.
RARE Hope serves as a hub for research — a nexus of ideas, a repository of research tools, a vital connection point between scientists, clinicians, and the patient community. As an organization, we work in close partnership with researchers. By building teams, assembling open-access resources, fostering collaboration, encouraging data sharing, and incubating innovation, we power progress.
Our support role is actually an enabling one.
In working to facilitate the work of our research partners, we accelerate discovery and keep science synchronized with patient priorities.
Patient Partners: Our Approach
- Serves as hub for resources and assembles teams
- Fosters collaboration and data sharing in real-time
- Establishes and advances patient priorities
- Provides project management and logistics support
As patient organizations, our role is connecting and facilitating – and making AHC an “easy target”
The Impact of the Hub: A Case Study
Our collaboration with Dr. David Liu (The Broad Institute of MIT and Harvard), Dr. Cat Lutz (The Rare Disease Translational Center at The Jackson Laboratory), Dr. Kathleen Sweadner (Mass General/Harvard) and Dr. Al George (Northwestern University), supported by a $2M grant from the Chan Zuckerberg Initiative (CZI), exemplifies the success of our hub model. We assembled a multidisciplinary, international project team, combining the best-in-field gene editing expertise of the Liu Lab with well-established scientists and disease specialists from around the world. We kept the team dynamic: as new discoveries in AHC emerged, we integrated new scientists and new knowledge into the team. We moved fast. Our partners at JAX worked with us to design mouse experiments around patient priorities, determined from our patient survey analysis. Data was shared in real time with a broad network of researchers beyond the project team, reinforcing a productive culture of collaboration with a real value: disease expertise, and evolving disease knowledge, was critical to the success of the project. Collaboration was mutually beneficial.
The patients-as-hub approach played a pivotal role in a study with groundbreaking results: the first successful use of prime editing to rescue a mouse model of a neurological condition. History in the making. Potential life-altering therapies for patients. A dynamic research hub powers acceleration.
2
A portfolio approach to maximize the probability of success
- Investigate all viable options with cost-effective strategies.
The range of therapeutic options is not exhaustive. A diversified portfolio of treatment options, from advanced genetic therapies to more-accessible repurposed drugs, is under investigation. Preclinical research is affordable: it is feasible to pursue multiple targets in parallel. - Provide the right therapies to a diverse patient population with a wide range of symptoms and varied requirements and priorities.
Pursuing multiple therapeutic strategies in parallel is critical to addressing a spectrum of patient variables, including patient genetics, age, symptom profile, and priorities. Patients with different causal mutations or different symptom profiles may require different therapeutic strategies. Patients from different age cohorts may benefit differentially from different therapeutic strategies, and some therapeutics may only be effective within a certain therapeutic window. Patient priorities for symptom elimination, and patient tolerance for interventions and risk, also play a key role in determining appropriate therapeutics to develop. A portfolio enables full representation of the interests and needs of our patient community.
- Enable individual patients to layer multiple strategies in combination.
Therapies can be layered or combined for optimal effect in patients. Gene therapies have been used in combination with antisense oligonucleotides (ASOs) in other neurological diseases like spinal muscular atrophy (SMA), for example. Biology can limit the full effect of therapies, particularly when administered to the brain: challenges remain in administration, biodistribution, immune response, and longevity of effect. The possibility of combining therapies ensures that treatments offering partial benefits to patients are still highly valuable; developing therapeutics with incomplete or partial benefit to patients remains critical to the overall strategy. - Mitigate risks that a single therapy may be unsuccessful.
Preclinical therapeutics development is inherently risky. The possibility of a “dead end” is significant. To mitigate the risk of failure—and reduce its potential impact on patients – multiple parallel investments are essential. Because early-phase development costs are much lower than costs in later stages, investments can be distributed across several therapeutic development programs simultaneously. - Use common, proven approaches to maximize chances of success and build processes and platforms for addressing other adjacent diseases.
Our strategy for the AHC therapeutics program is grounded in proven science and designed to minimize risk. By cherry-picking validated successes from other disease groups, we’ve carefully curated and adapted these strategies for AHC. Our philosophy is to be “first to be second”—applying what works while avoiding unnecessary risks. - Be dynamic: adopt breakthrough technologies early and embrace innovative approaches.
Transformative breakthroughs in technology are expanding the range of the possible. Exponential growth in AI capabilities can enable us to use data to transfigure the landscape of rare disease by enabling new methods of drug discovery, analyzing patient data, or identifying shared pathways across diseases. We’ve partnered with AI innovators early, as they refine their algorithms.
And It's not just AI: our approach requires constant evaluation of how to use the most advanced technologies to advance our mission.
Although initially developed with AHC at its core, our research strategy can be extrapolated to other rare diseases, creating a scalable and impactful model for broader application.