By Dave DeFusco
At the Katz School鈥檚 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 project鈥攁 global rare disease information hub鈥攕eeks 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 world鈥檚 most elusive illnesses.
Presenting their research are biotechnology master鈥檚 students Naveen Khetarpal, Dandan Wang and Ebenezer Ajao, and AI master鈥檚 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.
鈥淭here鈥檚 a deep knowledge gap in how we approach rare diseases,鈥 said Khetarpal. 鈥淒espite the huge amount of information out there, it鈥檚 scattered, unstructured and siloed. For a physician or researcher, that means wasted time and missed opportunities to help patients earlier.鈥
The team鈥檚 goal was to build a centralized, structured and interactive repository鈥攐ne that could consolidate clinical, scientific and business intelligence on rare diseases into a single, user-friendly dashboard鈥攖hat supports an AI-enhanced web application accessible through OrphanAtlas.net.
鈥淲e wanted to make sure this tool is not only robust but also accessible to anyone, anywhere,鈥 said Soni. 鈥淥rphanAtlas.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.鈥
The core of their work involved organizing this information into a web-based dashboard application, providing an intuitive interface for multiple stakeholders. The dashboard is more than just a database, though; it鈥檚 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.
鈥淭he strength of our platform is that it connects the dots,鈥 said Ajao. 鈥淔or example, you can look at a disease, find out who鈥檚 developing a drug and what stage it鈥檚 in, what patents exist and what gaps are still unaddressed. That鈥檚 huge for accelerating innovation.鈥
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.
鈥淲e started by focusing on approximately 4,000 of the most prevalent rare diseases,鈥 said Wang. 鈥淲e conducted a comprehensive review of scientific literature, online resources and specialized databases, including Orphanet, the FDA鈥檚 Orphan Drug Database, the Orange Book and PubMed.鈥
The project was guided by faculty who understand both the scientific and societal impact of such an undertaking.
鈥淭his research addresses a profound unmet need,鈥 said Dr. Khan. 鈥淩are diseases often fall through the cracks鈥攏ot because the science isn鈥檛 there, but because the data isn鈥檛 accessible or actionable. This project transforms data into insight, insight into action, and action into better outcomes for some of the most vulnerable patients.鈥
Dr. Zhang said the Global Rare Disease Information Hub is the type of applied science鈥攊nterdisciplinary collaboration, rigorous research and the creation of a product鈥攖hat can truly make a difference. It鈥檚 more than a student project, he said, it鈥檚 a vision of how smart data design can improve human health on a global scale.
鈥淥ur mission is not just academic,鈥 said Dr. Zhang. 鈥淚t鈥檚 about empowering patients, equipping clinicians and enabling innovation鈥攁nd doing it at a speed and scale that the rare disease community has long needed.鈥
