Durlabh Byadhi Nash (DBN) : Eradicating the rare diseases

Ridlan AI Foundation

Rare diseases have a low incidence, i.e., very few individuals (less than 50 to 65 patients per 100000 population worldwide) get affected by them (1). Due to this low prevalence, these diseases are less familiar to healthcare providers as they hardly study such diseased Subjects during training. Therefore, many healthcare professionals have limited experience with such conditions, leading to potential misdiagnosis or delayed diagnosis. Lack of infrastructure like equipment, accessibility to infirmaries, and other resources further exacerbate the conditions for the patients. As a result of these shortcomings, 'Patients Living With Rare Diseases' (PLWRD) often suffer from long waiting periods of up to 5 years or more (2). Also, over 40% of rare disease patients receive at least one misdiagnosis, and some experience multiple misdiagnoses. Approximately 95% of rare diseases lack approved treatments, making it difficult to manage and diagnose these conditions effectively. 

Our solution platform offers to address two of the current problems with rare diseases, namely Time-To-Diagnosis (TTD) and Diagnostic Accuracy (DA). The RaDx AI (pronounced as RaD X AI) tool will be able to generate potential diagnoses using patient data-based prompts, its model training, and real-time access to public databases (e.g., OMIM, Clinical trial registries, etc.). The tool can reduce the TTD and also improve the DA. Rare diseases are mostly caused by genetic anomalies (72%) as well as other etiologies (e.g., metabolic dysregulation). Hence,  our system can potentially be utilized for CME for medical practitioners as it will offer comprehensive information on diseases, genes, and proteins. This will solve the clinicians' lack of knowledge of rare disease-related issues and further improve the DA.

Moreover, it will be able to provide potential therapeutic interventions through its knowledge of approved drugs, experimental APIs, and other interventions, partially improving the delay in treatment. Patients or caregivers can also check the generational incidence probability using built-in pedigree analysis, enabling them to prepare better for the decision of family planning.

By combining these features, the platform aims to enhance patient care and disease outcomes significantly.

References:

1. Rare disease definition

2. Faye, F., Crocione, C., Anido de Peña, R. et al. Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey. Eur J Hum Genet (2024). https://doi-org.ezproxyberklee.flo.org/10.1038/s41431...

The initiative offers an open-source, all-access platform incorporating scholarly articles, simplified descriptive notes, and clinical trial datasets for rare diseases. The platform will be established based on the PRISMA (Predictability, Reliability, Integration, Simplicity, Multimodality, Accessibility) principle. 
The system will also show all the standard accession identifiers for diseases, genes, proteins, and trial studies so that the respective websites can be easily navigated. Also, we will have our own identifier code for all defined and undefined medical conditions. The search can be performed using either the name of the causative agent (e.g., genes, microbes, environmental chemicals) or disease names or symptoms. In the case of idiopathic conditions, only the symptoms or disease names can be used to search. However, for non-expert users, we highly recommend to consult a certified physician instead of self-diagnosis. 
The platform can also be used to prepare a pedigree chart, allowing foresight into the probability of carrying over the disease to future generations. This alone costs significant non-treatment expenses, and even after that, such expertise is unavailable in all government hospitals or regional centers in virtually all developing economies. The DBN plan will also host information regarding the regional medical institutes and clinics that are associated with the management of rare diseases.
As a future goal, we will be working to build registry databases encompassing Indian rare disease epidemiology information.  

The Durlabh Byadhi Nash (DBN) initiative is dedicated to eradicating rare diseases through innovative technology. Our solution, RaDx AI, is a simplified Platform as a Service (PaaS) that leverages Large Language Models (LLMs) to provide timely and accurate solutions. RaDx AI delivers precise, detailed diagnoses based on measurements and inputs via an interactive user interface.

1. Accurate Diagnostics: RaDx AI ensures detailed and accurate reports, offering comprehensive diagnostic information that healthcare providers can rely on.
2. Open Source Accessibility: Our services and products are open source, with available API connections that allow for seamless integration and collaboration with other developers and organizations.
3. Continuous Learning: The robust model learns from existing data and continuously updates with new data, making RaDx AI a centralized, self-learning database.
4. User-Friendly Interface: The platform features an intuitive, interactive user interface, enabling easy navigation and quick access to diagnostic information.

According to an editorial published by The Lancet Global Health in April 2024, almost 300 million people worldwide are currently suffering from rare diseases, and many of them belong to marginalized groups residing in low- and middle-income countries. However, we believe these data are an underestimation of the actual scenario due to the lack of diagnosis and reporting. They also face wrong diagnoses and may die without even learning about their medical conditions. In the UK, on average, every rare disease patient experiences three misdiagnoses, putting a heavy burden on the state exchequer as well as lowering the treatment window for the affected. Since the drug market does not hold much revenue potential for rare ailments as compared to common conditions, pharmaceutical companies pay less heed to such cases. In the absence of vigorous efforts by the policymakers, the doctors can not offer much help even after a timely diagnosis, and quite expectedly, 30% of such patients die before attaining the age of five.

Through our platform, we will initially offer a quick, meticulous, and comprehensive solution to the diagnosis-related challenges faced by the medicos and the patients. The easy-to-access UI can also be explored by non-expert individuals, and the RaDx AI tool, through its multimodal approach, shall cater to the various queries. We believe that this can mitigate the mental agony through medical dilemmas and uncertainty of the patients and their caregivers.

In the future, as we get support and grow further, we will establish our own clinical registry for rare diseases in India, which has a large population size with no organized government policy and expense coverage for rare diseases. Under the DBN plan, we also wish to expand the CME efforts by incorporating domain experts into our initiative, which will give the doctors a unique on-the-go platform to learn about these conditions. Since they are also important stakeholders in eradicating these diseases, the patients will indirectly benefit from the CME model. The biggest takeaway is the open-access model, through which patients can get all the services without virtually paying any penny out of their pockets.

The DBN plan has been proposed to the engineers, lawyers, and medicos for technical feasibility, medical know-how, and legal approvals. The prototype has yet to be launched as a pilot program, and we are currently looking for a collaborator (e.g., government or private hospitals, medical regulatory bodies, etc.). We are also in the process of receiving seed funds to sponsor the initial cost of the platform launch. 

To eradicate rare diseases and enhance the use of AI and technology, we are fully committed. RaDx AI is a simplified Platform as a Service (PaaS) where we have implemented Large Language Models (LLMs) to provide timely and accurate solutions. Our platform delivers precise reports with detailed diagnoses based on measurements and inputs, all through an interactive user interface.

 Advanced AI Integration

RaDx AI leverages advanced AI models to ensure that diagnoses are not only accurate but also comprehensive. The platform uses machine learning algorithms that continually learn from the current data and adapt to new information, making our model a centralized, self-learning database. This continuous learning capability ensures that our system remains at the cutting edge of medical diagnostics, providing the most up-to-date information and insights.

Open Source Accessibility

We believe in the power of open-source technology to drive innovation and accessibility. Therefore, our services and products are open source, with API connections available for seamless integration. This approach allows other developers and organizations to leverage our technology, fostering a collaborative environment where advancements can be shared and improved upon collectively.

Robust Data Analysis

The robustness of RaDx AI comes from its ability to learn from vast amounts of data. As more data is fed into the system, the model becomes increasingly accurate and reliable. This continuous learning process is crucial for dealing with the complexities of rare diseases, where data may be sparse and varied. By aggregating and analyzing this data, RaDx AI can provide insights that might not be apparent through traditional diagnostic methods.

Pedigree Analysis and Probability Calculations

An additional feature of RaDx AI is its capability for pedigree analysis and probability calculations of generational incidence. This means that the platform can analyze family history data to predict the likelihood of a disease occurring in future generations. Such predictive analytics are invaluable for proactive healthcare, allowing families and healthcare providers to take preventative measures and plan accordingly.

Interactive User Interface

The user experience is a critical component of RaDx AI. Our platform features an interactive user interface designed to be intuitive and user-friendly. This ensures that healthcare professionals can easily navigate the system, input data, and retrieve detailed diagnostic reports without needing extensive training. The interface is built to facilitate quick decision-making, which is essential in medical settings where time is often of the essence.

Commitment to Excellence

Our commitment to excellence drives us to continuously refine and improve RaDx AI. We are dedicated to ensuring that our platform not only meets but exceeds the needs of healthcare providers in diagnosing and treating rare diseases. By combining state-of-the-art AI technology with a user-centric design, we are creating a tool that can significantly improve patient outcomes and advance the field of medical diagnostics.

Primarily, we aim to build a network with the research and industry communities and develop global visibility by utilizing the platform jointly offered by MIT and Amgen. In such a multifactorial initiative, we have to amalgamate the expertise of innovators, the mentorship of clinical experts, and foster relationships with other domain stakeholders. Also, securing funding aid to support the DBN plan will enable us to fulfill our open-access promise to the patients.

Our team is uniquely positioned to deliver innovative solutions for societal challenges, driven by a shared mission to harness technology and AI for the greater good. Comprising young, enthusiastic, and dedicated problem solvers, our team is aligned with our goal to build impactful tech products that support our community. Our proven track record and pioneering spirit in creating tech solutions make us a formidable force in this endeavor.

Our mission is to develop cutting-edge tech and AI solutions that address pressing societal issues. This mission fuels our team's passion and dedication, creating a sense of purpose that permeates everything we do. Each team member is deeply committed to using their skills to make a positive difference, and this collective drive ensures that we stay focused and motivated.

We have successfully launched two tech products, ProjectChetna.in and Pawfriend.in, both of which have gained significant traction and media coverage across India. ProjectChetna.in provides QR-based pendants for specially-abled children and elderly individuals suffering from dementia and Alzheimer’s, facilitating their safe return if they go missing. Pawfriend.in offers QR-based digital tags for stray animals, ensuring they can be easily identified and reunited with their owners.

The extensive media coverage of ProjectChetna.in and Pawfriend.in has amplified our reach and impact. Nearly all major media houses in India have covered these initiatives, bringing attention to our innovative solutions and the social issues they tackle. This visibility has not only helped us gain public support but has also validated the effectiveness of our approach. The recognition further energizes our team, reinforcing our commitment to our mission.Our team is characterized by a deep passion for our cause and a strong sense of compassion. This unique blend of passion and empathy drives our team to go above and beyond in their efforts. We understand the real-world implications of our work and are motivated by the tangible benefits our solutions bring to people's lives. This intrinsic motivation ensures that our team remains dedicated and resilient, even in the face of challenges.

Operating in a startup environment, our team enjoys the freedom to express their ideas and work flexibly. This culture fosters creativity and innovation, allowing team members to explore different approaches to problem-solving. Everyone is encouraged to contribute their perspectives, leading to a collaborative and dynamic workplace where the best ideas can flourish. This flexibility also enables us to quickly adapt to changing circumstances and continuously improve our solutions.

Our commitment to excellence is unwavering. We continuously strive to improve our products and processes, ensuring that we deliver the highest quality solutions. This dedication to excellence is reflected in our meticulous approach to product development, our rigorous testing processes, and our constant pursuit of feedback and improvement. Our team's expertise, combined with their relentless drive for perfection, positions us well to deliver outstanding results.

We plan to launch the platform with the RaD-X AI tool, which can have a potential impact on almost 120 million people facing misdiagnosis worldwide, which is 40% of the current number of rare disease patients. 
Eventually, we will build an interactive CME platform for the medicos and an Indian registry for rare diseases impacting 80-100 million Indians, which is believed to be the number of rare disease patients as suggested by an op-ed titled "India’s fight against rare diseases" The Hindu and written by Shashi Tharoor and Shashank Shekhar (The Hindu, 29th February 2024). 

DBN plan has a long-term goal to create an access-to-all platform offering no-cost primary diagnosis, treatment suggestions, an interactive CME platform, a pedigree analysis tool alongside family planning advice for individuals with rare diseases, a yellow pages for a regional list of medical institutes and clinics offering rare disease-related services and an online rare disease epidemiological registry for India.  

We believe that our integrated one-of-its-kind approach will greatly benefit patients from all socio-economic strata, especially poor individuals with no means to bear the out-of-pocket expenses for the treatment. 

Our previous product have been in multiple news article:

https://m.economictimes.com/news/india/tech-to-the-rescue-qr-pendant-to-help-people-with-dementia/the-brain-behind-the-idea/slideshow/103709817.cms

https://m.timesofindia.com/city/mumbai/qr-code-on-locket-aims-to-help-the-lost-find-way-home/articleshow/103591617.cms

https://www.indiatoday.in/india/story/qr-code-enabed-pendants-to-help-lost-individuals-return-home-safely-mumbai-chetana-piramal-2436384-2023-09-16

https://www.femina.in/mamaearth-beautiful-indians-2023/goodness-stories/akshay-ridlan/12 https://www.thehindu.com/sci-tech/technology/this-street-dog-has-a-qr-code/article66524541.ece

https://timesofindia.indiatimes.com/city/mumbai/mumbai-engineer-develops-qr-code-for-stray-animals-akshay-ridlan/articleshow/97924474.cms?from=mdr https://www.hindustantimes.com/trending/mumbai-engineer-develops-tags-with-qr-codes-to-keep-track-of-stray-dogs-101676549633141.html

We are a team of 10 enthusiastic engineers dedicated to solving real-time problems, supported by 5 engineering interns who are actively learning and implementing solutions. Our efforts are guided by an advisory board of 5 members from diverse backgrounds, providing strategic insights and helping us make informed decisions for our AI and tech solutions.

Since January 2022, our team has been developing robust solutions, including a Digital Identity system for stray animals with local governments under project Pawfriend.in. We've also launched ProjectChetna.in, a QR-based initiative for the elderly and specially-abled children, now enhanced with AI. For the past 9 months, we've been working on an AI project to tackle rare diseases, with a prototype ready, we are doing further research  to assist doctors in providing quality life-saving treatments.

We proudly embrace and encourage diversity at our organization. Our employees hail from various states of India, bringing a rich tapestry of languages and cultures. Our advisory board includes members from the LGBTQ+ community who advocate for inclusion. Through ProjectChetna.in, supporting specially-abled individuals, we promote hiring differently-abled people for our sales and operations teams. We have two LGBTQ+ employees and diverse volunteers who contribute to Pawfriend.in, our initiative for stray animals. We provide a platform for everyone, regardless of background or orientation, to share their voices and spread positivity.

As an NGO, we rely entirely on funds and grants from donors and corporate social responsibility (CSR) initiatives. To ensure our organization's sustainability, we also sell two tech products designed to assist elderly people, specially-abled children, and stray animals. These products are not only innovative but also practical, addressing real-world challenges with technology.

Our Products

1. Pawfriend.in: This product provides QR-based digital tags for stray animals. In case a tagged animal goes missing, anyone who scans the QR code can access the emergency contact number and medical information of the pet. The owners receive an immediate notification via email, facilitating quick reunions. To date, we have distributed tags to 9,000 stray animals across India, significantly improving their safety and well-being.

2. ProjectChetna.in: This initiative offers QR-based pendants for specially-abled children and elderly people suffering from dementia and Alzheimer’s. If these vulnerable individuals go missing, the QR code can be scanned by police or bystanders to access crucial information and help reunite them with their families. We have provided pendants to 4,000 vulnerable people across India, enhancing their safety and offering peace of mind to their families.

Our mission is to leverage technology to create practical solutions for real-life problems faced by vulnerable populations. The QR-based digital tags and pendants are simple yet powerful tools that make a significant difference. By ensuring that stray animals can be easily identified and returned to their owners, and that elderly and specially-abled individuals can be quickly reunited with their families, we are addressing urgent needs in our communities.

Our organization is deeply committed to diversity and inclusion. Our employees come from various states across India, bringing a wealth of languages, cultures, and perspectives. Our advisory board includes members of the LGBTQ+ community, who advocate for inclusion and ensure our policies and practices reflect our commitment to equality. We actively promote the hiring of differently-abled individuals for our sales and operations teams, demonstrating our belief in creating an inclusive workplace.

At the heart of our organization is the belief that technology can be a force for good, solving real-world problems and improving lives. Through products like Pawfriend.in and ProjectChetna.in, we are making tangible impacts in the lives of stray animals, specially-abled children, and elderly individuals. Our commitment to diversity, inclusion, and sustainability drives us forward, and with the continued support of donors, CSR partners, and dedicated volunteers, we are poised to expand our reach and deepen our impact.

With our current prototype for RaDxAI, we aim to revolutionize the treatment of rare diseases by providing high-quality, timely medical care. Our vision is to create an open-source model, offering our product to both B2C and B2B markets on a subscription basis. This approach ensures that individuals and businesses alike can access our cutting-edge technology, broadening the impact and accessibility of our solutions.

To make our model sustainable and support our NGO's mission, we are incorporating AdTech into our platform. By offering advertising space, we can generate additional revenue streams, which will further sustain our operations and allow us to continue providing vital services to those in need. This innovative approach ensures that our NGO can maintain its financial health while focusing on our core mission of helping people.

Our NGO has a track record of success with previous projects, such as ProjectChetna.in, which received significant grants and support from donors. This experience has equipped us with the knowledge and connections needed to secure funding for our new initiatives.

We are currently in the process of finalizing Memorandums of Understanding (MoUs) with the CSR divisions of several pharmaceutical companies. These partnerships will be crucial for the implementation and expansion of our RaDxAI project. By collaborating with these companies, we can leverage their resources, expertise, and networks to enhance the reach and effectiveness of our solutions for rare diseases.

RaDxAI Prototype

The RaDxAI prototype represents a significant advancement in the field of medical technology. By utilizing artificial intelligence, our platform can analyze vast amounts of medical data quickly and accurately, aiding doctors in diagnosing and treating rare diseases. This timely intervention is crucial for conditions where early and precise treatment can make a substantial difference in patient outcomes.

Open Source and Subscription Model

Our commitment to creating an open-source model reflects our dedication to accessibility and innovation. By making our technology available on a subscription basis, we can cater to a wide range of users, from individual patients to large healthcare organizations.

The integration of AdTech into our platform is a strategic move to enhance sustainability. By providing advertising space, we can attract businesses and organizations looking to reach a targeted audience. This additional revenue will support our operations and enable us to invest in further development and expansion of our services.

With the backing of our existing donors and new partnerships with pharmaceutical companies, we are confident in the future success of RaDxAI. Our innovative approach, combining open-source accessibility with sustainable revenue models, positions us to make a significant impact in the treatment of rare diseases. As we move forward, we remain committed to our core mission of improving lives through technology and compassion.

RaDxAI represents the next step in our journey to leverage technology for the greater good. By providing high-quality treatment for rare diseases in a timely manner, and ensuring the sustainability of our model through AdTech and subscription services, we are poised to make a lasting impact.