By Dave DeFusco
At the Katz Schools Graduate Symposium on Science, Technology and Health, a team of students in the M.S. in Artificial Intelligence and M.S. in Biotechnology Management and Entrepreneurship will unveil an ambitious solution to one of the most pressing problems in modern medicine: the lack of a centralized, comprehensive and accessible resource for rare diseases.
Their projecta global rare disease information hubseeks to bridge fragmented data sources and offer clinicians, researchers, patients and biotech companies a clearer, faster path to understanding, diagnosing and treating some of the worlds most elusive illnesses.
Presenting their research are biotechnology masters students Naveen Khetarpal, Dandan Wang and Ebenezer Ajao, and AI masters student Prashant Soni. They were advised by Dr. Rana Khan, former director of the biotechnology program, and Dr. Youshan Zhang, assistant professor of computer science and engineering.
Rare diseases, by definition, affect fewer than 1 in 2,000 individuals in any World Health Organization region and yet, collectively, they impact more than 300 million people globally, including 30 million in the United States. Approximately 80% of rare diseases are genetic and 70% manifest in childhood, often with devastating consequences. Fully 30% of children with a rare disease die before age 5, and 95% of these diseases currently lack approved treatments. Diagnosis is equally fraught, taking an average of 4.8 years and often involving multiple specialists and misdiagnoses.
Theres a deep knowledge gap in how we approach rare diseases, said Khetarpal. Despite the huge amount of information out there, its scattered, unstructured and siloed. For a physician or researcher, that means wasted time and missed opportunities to help patients earlier.
The teams goal was to build a centralized, structured and interactive repositoryone that could consolidate clinical, scientific and business intelligence on rare diseases into a single, user-friendly dashboardthat supports an AI-enhanced web application accessible through OrphanAtlas.net.
We wanted to make sure this tool is not only robust but also accessible to anyone, anywhere, said Soni. OrphanAtlas.net serves as the public-facing platform where clinicians, patients and researchers can interact with the data in real time, making complex information digestible and actionable.
The core of their work involved providing an intuitive interface for multiple stakeholders. The dashboard is more than just a database, though; its a living ecosystem designed to be updated periodically to reflect the evolution of rare diseases for use by various stakeholders.
- Patients can explore early diagnosis indicators and available treatment options.
- Clinicians can make faster, better-informed decisions based on verified scientific data.
- Researchers can identify gaps in knowledge and collaborate more effectively.
- Startups and pharmaceutical companies can gain insights into the competitive landscape and identify opportunities for innovation.
The strength of our platform is that it connects the dots, said Ajao. For example, you can look at a disease, find out whos developing a drug and what stage its in, what patents exist and what gaps are still unaddressed. Thats huge for accelerating innovation.
Beyond its current capabilities, the team is already envisioning the next phase of development. With machine learning algorithms, the platform could begin to predict disease progression patterns, suggest personalized treatment paths and even flag emerging research trends across global datasets.
We started by focusing on approximately 4,000 of the most prevalent rare diseases, said Wang. We conducted a comprehensive review of scientific literature, online resources and specialized databases, including Orphanet, the FDAs Orphan Drug Database, the Orange Book and PubMed.
The project was guided by faculty who understand both the scientific and societal impact of such an undertaking.
This research addresses a profound unmet need, said Dr. Khan. Rare diseases often fall through the cracksnot because the science isnt there, but because the data isnt accessible or actionable. This project transforms data into insight, insight into action, and action into better outcomes for some of the most vulnerable patients.
Dr. Zhang said the Global Rare Disease Information Hub is the type of applied scienceinterdisciplinary collaboration, rigorous research and the creation of a productthat can truly make a difference. Its more than a student project, he said, its a vision of how smart data design can improve human health on a global scale.
Our mission is not just academic, said Dr. Zhang. Its about empowering patients, equipping clinicians and enabling innovationand doing it at a speed and scale that the rare disease community has long needed.
