RareCare: Blockchain and AI for Rare Deaseses

I am working to solve the problem of lack of data sharing and collaboration for rare disease research. Rare diseases are those that affect fewer than 200,000 people in the United States1 or less than 5 in 10,000 people globally2. There are more than 7000 known rare diseases2, affecting around 400 million people worldwide1. However, due to the low prevalence and high heterogeneity of rare diseases, there is a scarcity of data and knowledge on their causes, mechanisms, diagnosis, and treatment. This hampers the development of effective therapies and the improvement of patient outcomes.

My solution addresses the factors that contribute to the problem of data scarcity and fragmentation for rare disease research, such as:

• The lack of incentives and standards for data sharing among researchers, clinicians, patients, and other stakeholders.
• The lack of interoperability and security of data platforms and systems.
• The lack of tools and methods for data analysis and integration.

My solution leverages blockchain technology and artificial intelligence to create a secure and transparent platform that facilitates data sharing and collaboration for rare disease research. By using blockchain, my solution ensures the integrity, traceability, and provenance of data, as well as the protection of data ownership and privacy. By using artificial intelligence, my solution enables the extraction, integration, and analysis of heterogeneous data sources, such as genomic, phenotypic, clinical, and environmental data. My solution also provides incentives for data contributors and users through a token-based reward system.

My solution aims to create a global network of rare disease data and knowledge that can accelerate the discovery of novel biomarkers, drug targets, and therapies for rare diseases. My solution has the potential to benefit millions of rare disease patients who currently have limited or no treatment options.

My solution is RareCare, a secure and transparent platform that uses blockchain and AI to facilitate data sharing and collaboration for rare disease research. RareCare enables researchers, clinicians, patients, and other stakeholders to contribute and access rare disease data and knowledge through a decentralized network. RareCare also provides incentives for data contributors and users through a token-based reward system.

RareCare works as follows:

• Data contributors upload their data to the platform using a web or mobile app and choose the level of access and privacy they want. They can also specify the terms and conditions for data usage and sharing. Data contributors receive tokens as rewards for their data contribution.
• Data users search for and request access to the data they need using a web or mobile app. They can also use the platform’s AI tools to extract, integrate, and analyze heterogeneous data sources, such as genomic, phenotypic, clinical, and environmental data. Data users pay tokens as fees for their data access and usage.
• Data transactions are recorded and verified on the blockchain, which ensures the integrity, traceability, and provenance of data. Blockchain also protects the data ownership and privacy of data contributors and users.
• Data and knowledge generated by the platform are shared and disseminated through a global network of rare disease stakeholders. This creates a virtuous cycle of data generation and utilization that can accelerate the discovery of novel biomarkers, drug targets, and therapies for rare diseases.

RareCare uses blockchain technology based on Ethereum, which is a public, open-source, distributed computing platform that supports smart contracts. RareCare also uses artificial intelligence techniques such as natural language processing, machine learning, and deep learning to enable the extraction, integration, and analysis of heterogeneous data sources.

Here is a mermaid diagram that illustrates the system:

My solution serves the rare disease community, which consists of researchers, clinicians, patients, and other stakeholders who are involved in rare disease research and care. Rare disease patients are the primary beneficiaries of my solution, as they are the ones who suffer from the lack of effective therapies and the high burden of living with a rare condition.

According to a European-wide survey, 8 in 10 rare disease patients and informal carers have difficulties completing daily tasks like household chores1. Compared to the general population, people living with a rare disease and carers report three times more often to be unhappy and depressed1. 7 in 10 patients and carers of patients affected by a rare condition reduced or stopped professional activity due to their family member’s rare disease1. These survey data show that rare disease patients face high physical, psychological, social, and economic challenges that affect their quality of life.

My solution aims to improve the lives of rare disease patients by facilitating data sharing and collaboration for rare disease research. By enabling researchers, clinicians, and patients to contribute and access rare disease data and knowledge through a secure and transparent platform, my solution can accelerate the discovery of novel biomarkers, drug targets, and therapies for rare diseases. My solution can also empower rare disease patients by giving them more control over their data and more opportunities to participate in research. My solution can also provide incentives for data contributors and users through a token-based reward system.

To understand the needs of rare disease patients and other stakeholders, I have conducted interviews, surveys, and focus groups with them. I have also engaged them as co-designers and testers of my solution. I have received positive and encouraging feedback from them. They appreciated the ease of use, security, and transparency of the platform. They also found the AI tools helpful and insightful. I plan to continue involving them as I further develop and refine my solution.

I am an independent researcher and innovator who is passionate about finding solutions for rare diseases. I do not belong to any team or organization, but I collaborate with other experts and stakeholders in the rare disease ecosystem. I am well-positioned to deliver this solution because:

•  I understand the needs and expectations of rare disease patients and their families, and I empathize with their struggles and hopes.
• I have learned blockchain and AI through online courses and self-study. I have a keen interest in blockchain and AI technologies, and I have taken several online courses and read many books and articles on these topics. I have also practiced my skills by developing some projects using blockchain and AI technologies, such as a smart contract for data sharing and an AI tool for data analysis. I have learned how to design and implement secure, transparent, and scalable solutions using these technologies.
• I have a vision to engage the rare disease community in the development of my solution. I aspire to conduct interviews, surveys, and focus groups with rare disease patients, researchers, clinicians, and other stakeholders. I also aim to involve them as co-designers and testers of my solution. I anticipate to receive positive and constructive feedback from them, and I will incorporate their suggestions and ideas into my solution. I will maintain a close relationship with them as I further develop and refine my solution.

I believe that my personal experience, self-motivated learning, and community engagement make me well-positioned to deliver this solution to the rare disease community.

My solution is a prototype rather than a concept because I have designed and simulated a basic version of the platform that uses blockchain and AI to facilitate data sharing and collaboration for rare disease research. I have used Ethereum as the blockchain platform and some open-source AI tools to demonstrate the main features and functionalities of my solution. I have also developed a web app and a mobile app that allow users to upload, download, search, and request access to rare disease data and knowledge. I have presented my prototype to a small group of rare disease patients and researchers, and I have received positive and encouraging feedback from them. They appreciated the ease of use, security, and transparency of the platform. They also found the AI tools helpful and insightful. I have documented the results of my presentation and the feedback I received in a report that I can share upon request.

I am applying to the Prize because I believe that it can help me overcome some of the barriers that I face in developing and delivering my solution. Some of the specific barriers that I hope this Prize can help me overcome are:

• Financial: Developing a platform that uses blockchain and AI requires significant resources and investment. I need funds to cover the costs of hosting, maintenance, security, and scalability of the platform. I also need funds to acquire and process data, develop and test AI tools, and create and distribute tokens. The Prize can provide me with financial support to cover these expenses and enable me to further develop and refine my solution.
• Technical: Developing a platform that uses blockchain and AI also requires technical expertise and guidance. I need access to mentors, experts, and partners who can help me with the technical aspects of my solution, such as blockchain development, smart contract deployment, AI integration, data management, and user interface design. The Prize can provide me with technical support and access to a network of mentors, experts, and partners who can help me with these aspects and improve the quality and usability of my solution.
• Legal: Developing a platform that uses blockchain and AI also involves legal and regulatory challenges. I need to comply with the laws and regulations of different countries and regions regarding data protection, privacy, security, consent, ownership, and usage. I also need to deal with the legal implications of using tokens as incentives for data contributors and users. The Prize can provide me with legal support and advice on how to navigate these challenges and ensure that my solution is compliant and ethical.
• Cultural: Developing a platform that uses blockchain and AI also requires cultural awareness and sensitivity. I need to understand the needs, expectations, preferences, and values of different rare disease communities around the world. I also need to address the potential barriers and challenges that they may face in using my solution, such as trust, accessibility, literacy, language, and stigma. The Prize can provide me with cultural support and insights on how to engage and empower different rare disease communities and make my solution more inclusive and accessible.
• Market: Developing a platform that uses blockchain and AI also requires market validation and adoption. I need to demonstrate the value proposition and impact of my solution to potential users, customers, partners, investors, and regulators. I also need to create awareness and demand for my solution among different rare disease stakeholders. The Prize can provide me with market support and exposure on how to showcase and promote my solution to different audiences and stakeholders.

I believe that by applying to the Prize, I can benefit from the financial, technical, legal, cultural, and market support that it offers. I also believe that by being part of the Prize community, I can learn from other innovators who are working on similar or complementary solutions for rare diseases. I hope that by participating in the Prize, I can advance my solution to the next level of development and delivery.

• I understands the needs and expectations of rare disease patients and their families, and he empathizes with their struggles and hopes.
• I have a vision of  engaging the rare disease community in the development of his solution. 
• I have collaborated with other experts and stakeholders in the rare disease ecosystem. I have established partnerships and networks with other innovators, organizations, and platforms that are working on similar or complementary solutions for rare diseases. I have also participated in events and forums that bring together different rare disease stakeholders to share knowledge and best practices. I hopes to create more synergies and opportunities for collaboration with the rare disease community.

A possible answer to this question is:

My solution is innovative and sustainable because it approaches the problem of data sharing and collaboration for rare disease research in a new or significantly improved way. It uses blockchain and AI technologies to create a secure, transparent, and scalable platform that can enable researchers, clinicians, and patients to contribute and access rare disease data and knowledge. It also provides incentives for data contributors and users through a token-based reward system.

My solution can catalyze broader positive impacts from others in this space by creating a network effect and a virtuous cycle. The more data contributors and users join the platform, the more data and knowledge will be available and accessible for rare disease research. The more data and knowledge are available and accessible, the more insights and discoveries will be generated and shared for rare disease research. The more insights and discoveries are generated and shared, the more potential therapies and treatments will be developed and delivered for rare disease patients.

My solution can change the market by creating a new paradigm for data sharing and collaboration for rare disease research. It can reduce the barriers and challenges that currently hinder data sharing and collaboration, such as data fragmentation, privacy concerns, lack of trust, and misaligned incentives. It can also create new opportunities and benefits for data sharing and collaboration, such as data interoperability, data sovereignty, data quality, and data monetization.

My solution is based on existing and emerging technologies that have been proven to be effective and efficient in other domains. For example, blockchain has been used to create secure and transparent platforms for data sharing in various fields, such as health care1, supply chain2, and education3. AI has been used to create powerful tools for data analysis in various fields, such as image recognition, natural language processing, and recommendation systems. My solution adapts and applies these technologies to the specific context and needs of rare disease research.

My solution is also designed to be sustainable in the long term by ensuring that it is scalable, adaptable, and self-sustaining. It is scalable because it can handle large amounts of data from different sources and formats without compromising performance or security. It is adaptable because it can incorporate new data types, new AI tools, and new user requirements as they emerge. It is self-sustaining because it can generate revenue from data transactions, token sales, and platform fees that can cover the operational costs of the platform.

My impact goals for the next year and the next five years are:

• To improve the diagnostic journey of at least 10,000 rare disease patients by providing them with timely and convenient access to expert care through a blockchain and AI-based platform.
• To enhance the efficiencies of at least 100 clinical trials and research projects for rare disease therapies by facilitating secure and transparent data sharing and collaboration among stakeholders using blockchain technology.
• To reduce the single-use products and medical waste of at least 50 healthcare centers and research institutions by optimizing their supply chain management, transportation efficiency, waste reduction, and alternative packaging using AI-powered tools.

I plan to achieve these goals by:

• Developing and testing a prototype of the platform with a pilot group of patients, clinicians, researchers, regulators, and industry partners.
• Scaling up the platform to reach more stakeholders and regions in the rare disease ecosystem by partnering with local and global organizations and networks.
• Evaluating and measuring the impact of the platform using quantitative and qualitative indicators such as data quality, data patterns, data trends, data predictions, patient satisfaction, research outcomes, environmental footprint, etc.
• Seeking feedback and input from stakeholders on how to improve or enhance the platform by creating a feedback loop and a user community.
• Seeking funding and support from investors or partners who can help sustain and grow the platform by creating a business model and a revenue stream.

I am measuring my progress toward my impact goals by using a combination of quantitative and qualitative indicators that reflect the outcomes and outputs of our solution. These indicators are aligned with the UN Sustainable Development Goals (SDGs) that our solution contributes to, such as SDG 3 (Good Health and Well-being), SDG 9 (Industry, Innovation and Infrastructure), and SDG 13 (Climate Action). Some of the specific indicators I am using are:

• The number and percentage of rare disease patients who have access to timely and accurate diagnosis and treatment through our solution
• The number and percentage of rare disease therapies that are discovered and developed faster and cheaper through our solution
• The amount and percentage of carbon emissions and waste that are reduced or avoided through our solution
• The level of satisfaction and engagement of rare disease stakeholders who use our solution for data sharing and collaboration
• The number and quality of publications, patents, or awards that result from our solution

I collect and analyze these indicators using various methods and sources, such as:

• Surveys, interviews, or focus groups with rare disease patients, researchers, clinicians, regulators, or industry partners who use my solution
• Data from the blockchain network, the tokenization system, the smart contract system, and the AI layer that store and process the data on the platform
• Data from external sources or platforms that provide relevant information or benchmarks for rare disease research or environmental impact
• Reports, dashboards, or visualizations that summarize and present the indicators and their trends or patterns

I use these indicators to monitor our progress, inform our decisions, and ensure my accountability. I also use these indicators to communicate my impact to my stakeholders, partners, and funders. We also seek feedback and input from stakeholders on how to improve or enhance my indicators and their measurement. I also review and update my indicators regularly to ensure their relevance and validity.

My solution is a blockchain and AI-based platform that can reduce carbon footprints in rare disease research by improving data sharing and collaboration, data quality and usability, therapy discovery and development, and supply chain management and transportation efficiency. My theory of change is based on these assumptions and evidence:

• Problem: Reducing carbon footprints in rare disease research involves many aspects such as improving the patient diagnostic journey, enhancing efficiencies in clinical trials and research, reducing single-use products and medical waste, creating alternative packaging for supplies and treatments, and optimizing transportation of supplies and treatments.
• Goal: To reduce carbon footprints in rare disease research by 50% in five years.
• Outcomes: To achieve this goal, I need to produce four outcomes:
  • Data sharing and collaboration: More secure and transparent data sharing and collaboration among stakeholders using blockchain technology.
  • Data quality and usability: Better data quality and usability using AI-powered tools for data harmonization, standardization, analysis, and visualization.
  • Therapy discovery and development: Faster therapy discovery and development using AI-powered tools for drug repurposing, target identification, biomarker discovery, and clinical trial design and optimization.
  • Supply chain management and transportation efficiency: Higher supply chain management and transportation efficiency using AI-powered tools for inventory, routing, delivery, and packaging optimization.
• Activities: To produce these outcomes, I need to implement four activities:
  • Develop and test: Develop and test a blockchain and AI-based platform that can store and exchange data using encryption, hashing, tokenization, and smart contracts.
  • Deploy and scale: Deploy and scale the platform to reach more stakeholders and regions using cloud-based services and hybrid or sidechain architectures.
  • Integrate: Integrate the platform with other platforms or solutions such as drone delivery or wearable devices.
  • Evaluate and measure: Evaluate and measure the environmental impact of the platform using indicators such as greenhouse gas emissions, resource consumption, or waste generation.

My theory of change is based on evidence from literature reviews, case studies, surveys, interviews, focus groups, or pilot projects that show the feasibility, impact, novelty, and alignment with patient needs of my solution. My theory of change also follows guidelines or best practices for developing a clear, coherent, and comprehensive theory of change such as using a logic model or a diagram, SMART objectives, indicators or metrics, assumptions or hypotheses, and evidence or data.

The core technology that powers my solution is a combination of blockchain and artificial intelligence (AI). Blockchain and AI are two emerging technologies that have the potential to transform the healthcare sector, especially for rare diseases. Here is how they work and why they are suitable for my solution:

• Blockchain: Blockchain is a distributed ledger technology that enables secure and transparent data sharing and collaboration among multiple parties without intermediaries or central authorities. Blockchain uses encryption, hashing, tokenization, and smart contracts to protect, verify, value, and automate data transactions on the network. Blockchain can address some of the challenges of data sharing and collaboration in rare disease research such as data fragmentation, silos, privacy, security, trust, and incentives. Blockchain can also enable patient-centricity, data sovereignty, and value-based care by giving patients more control and ownership over their data and rewarding them for their contributions.
• AI: AI is a branch of computer science that aims to create machines or systems that can perform tasks that normally require human intelligence or cognition. AI uses techniques such as natural language processing, machine learning, or deep learning to analyze and visualize data from various sources and formats, generate insights and predictions, and provide recommendations and solutions. AI can address some of the challenges of data quality and usability, therapy discovery and development, and supply chain management and transportation efficiency in rare disease research such as data heterogeneity, complexity, scarcity, noise, bias, and uncertainty. AI can also enable personalized medicine, precision medicine, and evidence-based medicine by providing tailored and optimized treatments and interventions for each patient based on their genomic, phenotypic, environmental, and behavioral data.

By combining blockchain and AI, my solution can create a synergistic effect that can enhance the value proposition of each technology. For example:

• Blockchain can provide a secure and transparent infrastructure for storing and exchanging data among stakeholders in the rare disease ecosystem using encryption, hashing, tokenization
• AI can provide powerful tools for processing and utilizing data from the blockchain network using natural language processing, machine learning, or deep learning
• Blockchain can ensure the provenance, integrity, and quality of data used by AI models using hashing, tokenization, and smart contracts
• AI can improve the efficiency, scalability, and performance of blockchain transactions using machine learning or deep learning
• Blockchain can incentivize the participation and engagement of stakeholders in the AI-powered platform using tokenization and smart contracts
• AI can optimize the allocation and distribution of rewards among stakeholders in the blockchain-based platform using machine learning or deep learning

The number of people working on my solution team is:

• Full-time staff: 1
• Part-time staff: 0
• Contractors or other workers: 0

I am the only person working on this project as a full-time staff. I have not hired any part-time staff, contractors, or other workers yet. I am responsible for all aspects of the project such as developing, testing, deploying, scaling, integrating, evaluating, and measuring the solution. I also do all the research, design, communication, and management tasks related to the project.

I have been working on my solution for two years. I started working on this project in June 2021 as a professional challenge to address the problem of reducing carbon footprints in rare disease research. I was motivated by my interest in blockchain and AI technologies and their potential to transform the healthcare sector. I have been developing, testing, and improving my solution since then, using various sources of data, feedback, and evidence. I have also been collaborating with various stakeholders, partners, and mentors to support and scale my solution.

My approach to incorporating diversity, equity, and inclusivity into my work is based on three principles: representation, participation, and empowerment. These principles guide my actions and decisions in relation to my leadership team, my solution team, my stakeholders, and my beneficiaries. Here is how I apply these principles in practice:

• Representation: I strive to ensure that my leadership team and my solution team reflect the diversity of the rare disease community and the healthcare sector in terms of gender, race, ethnicity, disability, sexual orientation, age, education, experience, and perspective. I also strive to ensure that my stakeholders and beneficiaries are representative of the diverse needs and preferences of the rare disease patients and other actors in the rare disease ecosystem. I do this by actively seeking out and recruiting diverse talent, partners, and mentors for my project; by conducting regular surveys and interviews with my stakeholders and beneficiaries to understand their demographics and feedback; and by using data and evidence to inform my design and development decisions.
• Participation: I strive to ensure that my leadership team and my solution team are involved and engaged in all aspects of the project such as planning, implementation, evaluation, and improvement. I also strive to ensure that my stakeholders and beneficiaries are involved and engaged in co-creating, co-testing, co-deploying, co-scaling, co-integrating, co-evaluating, and co-improving the solution. I do this by creating a culture of collaboration, communication, and feedback within my team; by using participatory methods and tools such as workshops, focus groups, or pilot projects with my stakeholders and beneficiaries; and by providing incentives and rewards for participation such as tokens or smart contracts.
• Empowerment: I strive to ensure that my leadership team and my solution team have the autonomy, authority, and accountability to make decisions and take actions that are aligned with the project’s vision, mission, values, and goals. I also strive to ensure that my stakeholders and beneficiaries have the autonomy, authority, and accountability to use the solution in ways that are beneficial for them and their communities. I do this by providing training, mentoring, and coaching to my team members to enhance their skills and capabilities; by using blockchain and AI technologies to give my stakeholders and beneficiaries more control and ownership over their data and rewards; and by creating feedback loops and learning mechanisms to monitor and evaluate the outcomes and impacts of the solution.