RareDx: AI-Driven Rare Disease Diagnostic System

The specific problems we are addressing within the Horizon Prize challenge are the inefficiencies in the diagnostic journey of rare disease patients and the need for enhanced data collection and sharing in clinical trials and research.

Currently, about 300 million people worldwide suffer from rare diseases. For these patients, the journey to diagnosis is fraught with obstacles and inefficiencies. They often undergo a lengthy "diagnostic odyssey," which can span several years and involve numerous healthcare professionals. A report by Shire in 2013 indicated that rare disease patients on average spend 4.8 years seeking an accurate diagnosis and consult 7.3 physicians in the process. This delay in diagnosis not only impacts the quality of life of patients and their caregivers but also leads to wastage of valuable resources in terms of time, cost, and duplicative testing and travel.

Additionally, the field of rare disease research and clinical trials faces its own set of challenges. The lack of comprehensive, shared databases of patient information often results in siloed research efforts. This fragmentation hampers the advancement of understanding and treatment of rare diseases, leading to wasted resources and missed opportunities for innovation.

Our solution, RareDx, directly addresses these problems. Through the application of AI and generative AI, RareDx aims to expedite the diagnostic process for rare diseases, significantly reducing the time, cost, and resources associated with the current model of care. Moreover, our platform's capacity for data collection and sharing presents an opportunity to enhance efficiency in rare disease research and clinical trials, fostering an environment of collaboration and innovation.

We introduce RareDx, a groundbreaking solution, redefining the rare disease diagnostic journey with a blend of advanced AI, patient-focused functionalities, and an all-inclusive dashboard for healthcare and research professionals.

For the patient, RareDx is a powerful ally. With a few taps on their mobile device, patients input symptoms and health data, while the app seamlessly integrates biodata from wearable devices and sensors. Our AI engine, equipped with generative capabilities, cross-references this information with a global rare disease database. The result is a set of potential diagnoses to guide patients and healthcare providers towards the right path more efficiently. What's more, our generative AI extrapolates current data to predict disease progressions, empowering patients with personalized lifestyle and treatment recommendations.

On the flip side, RareDx extends its revolutionary features to healthcare and research professionals with a comprehensive dashboard. Here, all aspects of patient care coalesce in one space. The platform allows professionals to manage visits, formulate medication plans, design lifestyle interventions, and share educational resources.

But it doesn't stop there. RareDx promotes community collaboration, offering a shared platform for multi-disciplinary interactions, accelerating the pace of rare disease research, and facilitating the quick translation of findings into clinical practice.

At the heart of it all, our dashboard's advanced data visualization tools provide real-time insights into patient progress, fostering informed and quick decision-making.

RareDx isn't just a tool. It's a revolution. An amalgamation of advanced technology and community collaboration, it democratizes the rare disease diagnostic journey, optimizes resource use, and catalyzes treatment development. It is a promise of a future where rare diseases aren't a complex labyrinth but a manageable journey, with patients and professionals holding the compass.

RareDx is designed to serve two principal communities - patients with rare diseases and the medical professionals dedicated to their care and treatment.

Patients: Our tool is engineered to empower the estimated 300 million people worldwide living with rare diseases. Often, these individuals face a complex, protracted, and costly journey towards diagnosis, with multiple visits to different specialists, extensive tests, and the anxiety of uncertainty. Our solution addresses this problem head-on. By providing an AI-driven diagnostic tool, we drastically reduce the time and resources spent on identifying their condition. Patients receive accurate diagnostic suggestions, personalized treatment paths, and lifestyle recommendations based on their unique health profile and global rare disease data. This direct, in-hand control over their health data can alleviate anxiety, increase understanding, and ultimately accelerate their journey towards the right diagnosis and treatment.

Medical Professionals: We extend our solution to healthcare providers, clinical researchers, and allied healthcare professionals involved in the care and research of rare diseases. Through our advanced, feature-rich dashboard, they can efficiently coordinate care, track patient progress, and share valuable resources. Furthermore, our platform's data aggregation and visualization capabilities can offer meaningful insights into disease trends and treatment outcomes, driving forward the research in this field.

Engagement and Iteration: To ensure our solution is human-centric and responsive to the needs of these communities, we believe in a continuous feedback loop. We actively involve patients, doctors, and researchers in the development and refinement of RareDx. Using a variety of methods such as surveys, beta testing, and user feedback sessions, we capture their experiences, suggestions, and needs. This information directly feeds into our ongoing product development, ensuring that RareDx remains a tool that serves its users in the most efficient, intuitive, and beneficial way.

In essence, RareDx is about elevating the journey of rare disease patients and enabling the professionals who support them. It's a tool designed to create a future where every person living with a rare disease can get faster diagnosis, better treatment, and live a more empowered life.

Open Health Network's team is uniquely positioned to deliver the RareDx solution for several key reasons - our diverse team composition, direct experiences with the problem, and our ongoing engagement with the communities we serve.

Our team is an eclectic blend of technologists, healthcare professionals, and patient advocates, many of whom have personal experience with rare diseases, either as patients or caregivers. This personal connection imparts us with a deep understanding of the struggles, needs, and desires of those living with rare diseases. It's not just about designing an effective tool; it's about creating a solution that resonates with the patients' journey.

Our team lead, for example, was driven into the world of health technology due to her personal experience as a caregiver to a family member with a rare disease. This direct, first-hand experience has been invaluable in shaping our understanding and approach to developing solutions that are sensitive, relevant, and impactful.

Engaging with the Community

We maintain an ongoing dialogue with our user communities - patients, caregivers, and healthcare professionals. Through regular surveys, interviews, and beta testing, we gather their inputs, suggestions, and experiences. We also actively participate in rare disease conferences, workshops, and online forums, staying tuned into the evolving landscape of rare disease care and research.

We regularly invite patient groups and healthcare professionals to use our platform in a real-world setting, collecting their feedback to iterate and improve our solution. We view our users not just as end-users, but as co-creators of the RareDx solution.

Guided by the Community

Every feature of RareDx, from its AI-driven diagnostic tool to its patient-empowerment features, has been influenced by inputs from our user community. Whether it's a tweak in the user interface based on a patient's feedback, or the inclusion of a new feature requested by healthcare professionals, our development process is community-guided.

Our vision for RareDx is of a tool that is not only built for the community but is also shaped by the community. We are well-positioned to deliver on this vision, thanks to our team's unique blend of personal experiences, technical expertise, and deep commitment to improving the rare disease diagnostic journey.

Open Health Network is applying for the 2023 Horizon Prize to expedite the scaling and advancement of our RareDx solution. We are eager to make a profound impact on the lives of people dealing with rare diseases, but several barriers present significant challenges.

Financial Barrier

Developing, refining, and scaling an AI-driven solution like RareDx demands substantial resources. The prize funding would significantly boost our ability to enhance the AI model's sophistication, expand the rare disease database, and expedite the integration of additional user-friendly features. It would also support the deployment of our solution to more regions, thereby reaching more patients and caregivers.

Technical Barrier

While we have a competent team of technologists, the continuous evolution of AI and healthcare technologies requires us to keep updating our skillsets. The mentorship and networking opportunities that come with the Prize would allow us to collaborate with other innovators and leaders in the field, learning from their experiences and insights.

Market Barrier

The rare disease market is scattered and varied, making it difficult to reach our target user base effectively. Winning the Prize would give us visibility and credibility, helping us connect with more patients, healthcare providers, and research organizations.

Cultural Barrier

Rare diseases often face a cultural barrier in terms of awareness and understanding. The Prize would offer a platform to raise awareness about rare diseases and the role of technologies like RareDx in improving patient outcomes.

Our participation in the 2023 Horizon Prize is thus not just about the funding. It's about the opportunity to learn, grow, and make meaningful connections that could propel RareDx to new heights, delivering its benefits to those who need it the most.

Tatyana Kanzaveli, the CEO and founder of Open Health Network, has a deep-rooted connection with the communities we aim to serve with our RareDx solution.

Tatyana herself has been through the healthcare system as a cancer patient. Her first-hand experience of the challenges faced by patients, from diagnosis to treatment, has been a driving force behind the creation of RareDx. Tatyana's personal journey provided her with unique insights into the emotional, logistical, and financial toll of medical uncertainties, particularly for patients with rare diseases.

Moreover, Tatyana is extensively involved in patient communities, rare disease advocacy groups, and healthcare innovation forums. She regularly participates in discussions, workshops, and conferences focused on healthcare innovations, patient care, and particularly, rare diseases. This involvement enables her to understand the evolving needs of these communities and guide the RareDx solution's development accordingly.

Tatyana's passion and commitment to improving patient experiences and outcomes are reflected in every aspect of Open Health Network. Her leadership and understanding of patient communities make her the ideal person to lead the development and implementation of RareDx.

At the heart of RareDx, we have engineered a convergence of cutting-edge artificial intelligence (AI) and comprehensive patient data, all encapsulated in a user-friendly mobile platform. This elegant blend of advanced technology and personal health data interaction represents an innovative leap in tackling the challenges of rare disease diagnosis and research.

Traditionally, the diagnostic journey for rare disease patients is marked by uncertainty, delayed diagnosis, and unnecessary medical procedures. This is where RareDx alters the trajectory. With the power of AI and a vast, global rare disease database, it drastically reduces diagnostic odysseys. By analyzing patient-reported symptoms and comparing them against this database, our solution can offer early diagnostic suggestions, potentially saving years of distress for patients and caregivers.

Unlike conventional methods, our approach empowers patients by bringing the diagnostic tool right to their fingertips. At the same time, this lessens the environmental burden, curbing wasteful medical practices and lowering carbon emissions from reduced patient travel.

What truly sets RareDx apart is our integration with wearable devices, sensors, and lifestyle intervention options. It allows us to capture biometric data right from the patient's home, offering a more complete and holistic health picture. Furthermore, it proposes personalized lifestyle changes and interventions like prescribed exercises and nutritional advice, taking our solution beyond just diagnosis to actively enhancing patient health.

Our AI technology doesn't stop at diagnosis; it also accelerates clinical trials and research. By automating data collection and encouraging data sharing, it expedites the development of new treatments and interventions. This radical improvement in research efficiency has the potential to redefine the market, enabling the medical community to serve rare disease patients better and faster.

However, innovation without sustainability is a mere flicker. Recognizing this, we've designed RareDx to evolve with growing technological advancements and changing user needs. The self-learning capabilities of our AI ensures that our solution is continually updated and improved, maintaining its relevancy and effectiveness over time.

Our patient-centric approach is the cornerstone of our sustainability strategy. By engaging patients and caregivers in the development process, we ensure our solution genuinely meets their needs. Additionally, this constant feedback loop allows us to address challenges promptly, guaranteeing the long-term viability of RareDx.

In essence, RareDx serves as a beacon of hope for millions of patients suffering from rare diseases. We believe our innovative and sustainable approach to tackling this complex challenge can catalyze broader positive impacts, driving systemic change in the healthcare sector and beyond. And that's the magic of RareDx - transforming lives one diagnosis at a time.

One-Year Impact Goal:

Our immediate goal for the next year is to streamline and enhance the rare disease diagnostic journey for at least 100,000 patients. We aim to achieve this by continuously improving our AI algorithms, expanding our disease database, and collaborating with healthcare professionals to increase our platform's adoption.

To ensure success, we will focus on refining our tool based on user feedback and medical advancements. Through strategic partnerships with health institutions and research organizations, we will broaden our database to include even the rarest of diseases. We aim to foster an environment of proactive, patient-centric care, minimizing the diagnostic odyssey that rare disease patients often endure.

Five-Year Impact Goals:

Over the next five years, we aim to revolutionize the landscape of rare disease diagnosis and care, touching the lives of over 1 million patients. Our goal is to become a globally recognized tool for early rare disease detection, drastically cutting the average diagnosis time for these diseases.

We aspire to achieve this by creating a worldwide network of collaborating healthcare professionals using our tool, thus driving global data sharing and enhancing the effectiveness of our AI. This in turn will enable us to expand our database, increasing the accuracy of early diagnostic suggestions and bringing hope to patients across the globe.

In addition to diagnostic capabilities, we aim to fully integrate a personalized healthcare management system into RareDx. By including features like medication reminders, exercise schedules, nutrition guides, and more, we intend to create a comprehensive health companion for our users.

We also foresee our platform transforming the research landscape for rare diseases. With better, quicker access to patient data, researchers can gain critical insights and accelerate the development of new treatments and interventions. In five years, we aim to have contributed to the research and development of at least 100 novel treatment options for various rare diseases.

Achieving these ambitious goals requires meticulous planning, relentless commitment, and the forging of strategic partnerships. We plan to collaborate with various stakeholders, including healthcare institutions, research organizations, and patient advocacy groups, to realize our vision.

At the heart of our work lies a powerful purpose - to alleviate the struggles of millions of rare disease patients around the world. We believe that our innovative, sustainable, and scalable solution can truly make a difference. With every accurate early diagnostic suggestion we provide, every clinical trial we expedite, and every lifestyle intervention we facilitate, we bring hope to those who need it the most. The transformative impact of RareDx on the healthcare landscape is not just a goal - it's a promise.

Measuring progress towards our impact goals is pivotal in ensuring that we remain on track and stay true to our mission. Here are the specific indicators we use:

1. Number of Patients Served: This quantitative metric gives us an idea of the reach of our solution. The more patients we serve, the closer we are to achieving our impact goals.

2. Time to Diagnosis: Our primary mission is to shorten the diagnostic journey for rare disease patients. We measure the time from when a patient first reports symptoms on our platform to when they receive a diagnosis. Our goal is to reduce this time significantly compared to traditional methods.

3. User Satisfaction: Patient and clinician satisfaction with our platform is crucial. We employ regular surveys and user feedback mechanisms to gauge the user-friendliness, accuracy, and overall satisfaction with our tool.

4. Number of Healthcare Professionals Using Our Platform: The more healthcare professionals using our platform, the greater its impact. We track this metric to understand our platform's adoption within the medical community.

5. Number of Partnerships: Our platform thrives on collaboration. We measure the number of strategic partnerships we establish with healthcare institutions, research organizations, and patient advocacy groups.

6. Impact on Research: We track the number of research projects that our platform aids and the number of new treatment options developed with the help of our platform's data.

7. Sustainability and Financial Health: We monitor our financial sustainability through revenue, operational costs, and the ratio of self-generated income to donor funds. A financially healthy organization is essential for our long-term impact goals.

These indicators align with several of the UN Sustainable Development Goals, particularly SDG 3 (Good Health and Well-being), SDG 9 (Industry, Innovation, and Infrastructure), and SDG 17 (Partnerships for the Goals). We will continuously refine these indicators as we progress and learn more about our solution's impact.

Our AI-driven Rare Disease Diagnostic Tool operates on a Theory of Change that revolves around leveraging advanced technologies to optimize and expedite the diagnostic journey for rare disease patients, thus ultimately enhancing their quality of life.

Activities:

Our core activities involve the development and continuous improvement of our AI platform, which uses a global rare disease database to provide early diagnostic suggestions. This platform integrates with wearable devices and sensors to collect biometric data, and offers patients lifestyle recommendations such as exercise regimens and nutrition advice. The platform is also enriched by the integration of a clinical/research dashboard to facilitate healthcare providers in their patient management and research endeavors.

Immediate Outputs:

These activities are expected to produce immediate outputs, including a reduction in the time, cost, and resources used in the diagnostic journey. Furthermore, it will decrease repeated testing and unnecessary patient travel, thus decreasing the carbon emissions associated with these activities. Our platform also improves data collection and sharing, enhancing efficiency in research and clinical trials.

Long-term Outcomes:

In the long run, these outputs should translate into significant outcomes. First, it will improve the health and well-being of rare disease patients by facilitating early and accurate diagnosis, improving treatment options, and enhancing patient management. This aligns with UN's SDG 3 (Good Health and Well-being).

Secondly, it will accelerate research into rare diseases, potentially leading to the discovery of new treatment methods and contributing to the body of scientific knowledge in this area.

Thirdly, by integrating innovative technologies into the healthcare sector, we align with SDG 9 (Industry, Innovation, and Infrastructure).

Evidence:

Our theory of change is supported by various forms of evidence. Studies have shown that AI has the potential to revolutionize the healthcare sector by enabling personalized treatment, early diagnosis, and enhanced patient management. Furthermore, our previous experience integrating wearable devices and sensors for biometric data collection has shown substantial promise in terms of improving patient outcomes. Additionally, the use of AI and digital tools in healthcare is widely supported by research and is becoming an industry standard.

Thus, we are confident that our solution can have a substantial impact on the lives of those affected by rare diseases and can catalyze positive changes in the healthcare industry as a whole.

Our solution is an AI-driven Rare Disease Diagnostic Tool, powered by a combination of Artificial Intelligence (AI), machine learning (ML), and integrations with wearable technology.

Artificial Intelligence & Machine Learning: The core of our platform utilizes AI and ML technologies to analyze patient symptoms, history, and biometric data. AI algorithms are used to compare a patient's data against a global database of rare diseases and their associated symptoms. The AI utilizes machine learning to improve its diagnostic accuracy over time, learning from each case to refine its suggestions. The result is a tool that can provide early diagnostic suggestions with high accuracy, drastically reducing the time it takes to diagnose rare diseases.

Integration with Wearable Technology: Our platform integrates with a range of wearable devices and sensors. These devices collect biometric data such as heart rate, sleep patterns, activity levels, and other vital signs. This real-time, continuous data collection provides valuable insights into a patient's health and wellbeing, complementing traditional clinical data and contributing to the diagnostic process. Furthermore, it allows for remote patient monitoring and management, reducing the need for in-person visits and thus the associated carbon emissions.

Clinical/Research Dashboard: This is a feature that allows healthcare providers to create and manage all patient-facing activities, educational materials, visits, medications, and lifestyle interventions. It's a powerful tool to streamline patient management, facilitate research, and promote patient engagement and adherence to treatment and lifestyle recommendations.

Generative AI: In addition to the diagnostic AI, we also leverage Generative AI to create personalized exercise and nutrition plans for the patients. These plans are not just generic guidelines; they take into account the patient's specific disease, symptoms, health status, and lifestyle to provide personalized and effective recommendations.

Thus, the core technologies powering our solution are not only groundbreaking in the healthcare industry, but they also cater to the unique needs of rare disease patients, optimizing their diagnosis and treatment journey, and ultimately improving their quality of life.

6 full time

6 part time

7 consultants/advisors

we have been working on our solution set for 10 years

Our approach to diversity, equity, and inclusivity (DEI) is central to our vision and mission and deeply ingrained in our organizational culture and practices. We fundamentally believe that the strength of our work lies in the diversity of the people involved, their ideas, and the rich, varied perspectives they bring to the table.

Diversity in Leadership and Team: Our leadership team, which includes me, Tatyana Kanzaveli, is an embodiment of diversity. Our team is comprised of individuals from different backgrounds, genders, races, and cultures. We are not just a diverse team in terms of demographics, but we also have a mix of people with different experiences, skill sets, and areas of expertise. We believe this diversity in thought and experience is critical in creating a tool that caters to a diverse global patient population.

Inclusive Practices: We ensure that our practices and policies are inclusive and equitable. This includes ensuring fair recruitment and selection processes, providing equal opportunities for growth and development, and fostering an inclusive work culture where everyone feels valued and included. We regularly review our practices to ensure they align with our DEI commitment.

Involvement of Diverse Communities: We recognize that the rare disease community itself is incredibly diverse, with patients spanning different ages, races, genders, geographical locations, and socioeconomic statuses. We make an intentional effort to engage with a diverse group of patients, healthcare providers, and researchers during the development and testing of our tool. This ensures that the tool is not just designed for a diverse audience, but is designed with them, incorporating their unique needs and perspectives.

Goals for the Future: We are continuously striving to improve and expand our DEI practices. One of our key goals for the future is to further diversify our team, particularly in leadership roles. We also aim to increase our engagement with marginalized and underrepresented patient communities to ensure our tool is accessible and beneficial to all.