Predicting the Unpredictable: AI in Rare Disease Diagnostics

Predicting the Unpredictable: AI in Rare Disease Diagnostics (eBook)

A Computational Approach to Rare Disease Diagnostics

Description

Welcome to the intersection of Artificial Intelligence and modern healthcare research. Predicting the Unpredictable: AI in Rare Disease Diagnostics explores how advanced computational techniques can help understand and predict complex rare genetic disorders.

This book focuses on the application of Machine Learning, Deep Learning, and Explainable AI in analyzing rare diseases such as Menkes disease and Tay-Sachs disease. It presents structured approaches to predictive modeling, risk assessment, and symptom tracking using clinical, genetic, and biochemical data.

Designed for students, researchers, and healthcare technology enthusiasts, the book explains how artificial intelligence can support early diagnosis, improve prognosis estimation, and contribute to the development of personalized treatment strategies.

Inside this book, readers will explore:

• Fundamentals of AI-driven predictive modeling in healthcare
• Machine learning frameworks for rare disease analysis
• Deep learning techniques for tracking disease progression
• Feature engineering and biomarker identification
• Integration of multi-omics data for improved prediction
• Explainable AI methods for transparent medical decision-making
• Emerging possibilities of AI in drug discovery and precision medicine

By combining computational intelligence with biomedical science, this book highlights the growing role of artificial intelligence in transforming rare disease research and advancing the future of precision healthcare.

About the Authors

Author 1:
Dwarampudi Tejo Madhuri is a final-year B. Tech student in Computer
Science and Engineering at Pragati Engineering College (Autonomous),
Surampalem, whose work connects artificial intelligence with impactful
healthcare innovation. With a strong academic record and a passion for
research, she has published in reputed journals and received recognition as
a Best Researcher for her contributions. Her technical expertise is reinforced
by global certifications in Cisco Networking, AWS Cloud, Blue Prism,
Google Android Development, and IBM AI Chatbot technologies, along
with five-star ratings on competitive coding platforms such as HackerRank,
CodeChef, TopCoder, and CodeByte. In recognition of her leadership and
innovation, she was selected among the Top 50 Changemakers in India in
the Changemakers World Cup 2025 by 1M1B, reflecting her dedication to advancing predictive
medicine and rare disease diagnostics. Beyond academics, she has represented at the National level
in gymnastics twice and secured State Third Place in 2018 and 2019, demonstrating discipline,
perseverance, and competitive excellence. She has also served as President of the AR/VR Technical
Club, mentoring peers in emerging technologies, and continues to pursue research at the intersection
of artificial intelligence, precision healthcare, and social innovation.

Author 2:
Dr. Alugolu Avinash is an Associate Professor in the Department of
Computer Science and Engineering at Pragati Engineering College
(Autonomous), Surampalem, Kakinada, Andhra Pradesh, India. He
received his Doctor of Philosophy (Ph.D.) from Sikkim Alpine University,
Namchi, Sikkim, with his thesis titled “Enhanced Contextual
Understanding in Large Language Models using Multi-Modal Learning
Approaches.” With over 15 years of academic experience across
universities and engineering institutions, his research expertise spans
Artificial Intelligence, Machine Learning, Deep Learning, and Natural
Language Processing. He has published more than 34 research papers in
reputed national and international journals and has actively contributed to the academic community
by organizing and participating in numerous technical workshops, seminars, and webinars. He also
serves as a reviewer for several prestigious international journals, has received multiple academic
excellence awards and recognitions, and has been leading the AR/VR Technical Club, mentoring
students and fostering innovation in emerging technologies.

Author 3:
Mr. Ch.Kodanda Ramu is an Associate Professor and Head of the Department of Master of Computer Applications (MCA) at Miracle Educational Society Group of Institutions (Autonomous), Miracle City, Bhogapuram, Vizianagaram District, Andhra Pradesh, India. With over 18 years of rich experience in teaching and research, he has made significant contributions to the growth and development of the MCA department through innovative teaching practices, curriculum design, and effective academic administration. His leadership emphasizes student-centric learning, faculty development, and the promotion of research, innovation, and industry collaboration. He has published more than 20 research papers in reputed national and international journals and has actively contributed to the academic community by organizing and participating in numerous technical workshops, seminars, and webinars His academic and research interests include Machine Learning, Cyber Security, Intrusion Detection Systems (IDS), Network Security, and Data Analytics. He is actively engaged in mentoring students, guiding research and academic projects, and fostering an innovation-oriented learning environment that prepares students to meet current and emerging industry challenges.

Author 4:
Dr. S.Thangadurai is an accomplished Assistant Professor in the Department of Science and Management at Christ College, Malur, with over 12 years of combined experience in academia and industry, specializing in Computer Science and Business Analytics. He holds a Master’s degree in Computer Science, an M.Phil., and an MBA (HR), reflecting a strong interdisciplinary foundation. His areas of expertise include Business Intelligence, Data Warehousing and Mining, Data Analytics, Python, Machine Learning, and Web Analytics. Known for his student-centric approach, he emphasizes experiential learning, critical thinking, and real-world application of data-driven concepts. He actively mentors students to build problem-solving abilities and analytical skills aligned with industry demands. Through his integration of technology and management principles, he contributes significantly to academic excellence, research development, and the preparation of future-ready professionals.

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