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Rare diseases affect millions globally, yet patients often face delayed diagnoses, limited treatments, and insufficient support due to the conditions’ low prevalence and clinical complexity. This book, Revolutionizing Rare Disease Care: The Role of Artificial Intelligence and Machine Learning, addresses this unmet need by exploring how AI and ML technologies are transforming the diagnosis, treatment, and management of rare diseases. It offers a comprehensive, disease-specific analysis of AI-driven innovations in areas such as early detection, drug discovery, biomarker identification, and personalized therapeutic interventions. The book also examines ethical, regulatory, and implementation challenges, ensuring equitable and transparent integration of AI/ML in clinical practice. Covering rare diseases like amyloidosis, ALS, and choroideremia, the book presents real-world insights into how technology can revolutionize patient care. Timely and unique, this book is a vital resource for clinicians, researchers, data scientists, and healthcare policymakers seeking to harness AI/ML to improve outcomes and quality of life for patients with rare diseases.
Dr. Rajnish Srivastava has over 12 years of experience in academics and research, with expertise in dermal and neurodegenerative disease therapeutics. He specializes in the formulation of nanostructured drug delivery systems using low-energy methods and in identifying biomarkers for neurological, metabolic, and dermal conditions. Dr. Srivastava has contributed significantly to hybrid therapeutic strategies for diabetes and complications such as neuropathy. He is proficient in designing protocols and conducting in vivo pharmacological studies, including regulatory toxicology using clinically relevant models. His academic credentials include over 40 research publications, 30+ book chapters, 3 patents, and presentations at more than 50 conferences.
Dr. Mandeep Kumar Gupta is an academician and researcher with over 12 years of experience in pharmaceutical education and research. His expertise lies in computational chemistry, synthesis, and spectral characterization of chemical and phytochemical entities using FT-IR, LC-MS, NMR, and UV techniques. Dr. Gupta has guided over 20 UG and PG pharmacy students and published 10+ peer-reviewed articles. He has completed multiple NPTEL certifications, participated in 12 faculty development programs, and attended 36 seminars/conferences.
Dr. Pooja Chawla is a leading researcher in computational biomedicine and pharmaceutical sciences, serving as Professor at UIPS&R, Baba Farid University of Health Sciences, Punjab. A Member of the Royal Society of Chemistry (MRSC), she holds a Ph.D. and M.Pharm. Her scholarly impact includes an h-index of 25, i10-index of 70, and over 2,500 citations. She serves in key editorial roles, including Assistant Editor (Health Sciences Review), Academic Editor (PLOS ONE), and Guest Editor for journals like Current Organic Chemistry and CNS & Neurological Disorders - Drug Targets.
Dr. Manoj Kushwaha is a postdoctoral fellow at Baylor College of Medicine, Houston, specializing in analytical biochemistry and cancer metabolomics. He earned his Ph.D. in Biotechnology from CSIR-IIIM, Jammu, focusing on microbial metabolites and mass spectrometry-based drug discovery. His expertise spans LC-MS/MS, LC-HRMS, NMR, and bioassay-guided isolation, with command over bioinformatics tools like Metlin, XCMS, and SWATH. Dr. Kushwaha has co-authored 20+ peer-reviewed publications in journals such as ACS Omega and Journal of Natural Products.
Dr. Amit Kumar Srivastava is a multidisciplinary scientist specializing in nanomedicine, topical delivery, and translational drug development. He holds a Ph.D. from the Department of Biosciences and Bioengineering, IIT Roorkee, where he developed aerosol-assisted nanostructured lipid carriers for psoriasis treatment. His industrial and academic experience includes roles at CSIR-IIIM Jammu, Gennova Biopharmaceuticals, and Anjali Chem India, focusing on LNPs, vaccines, and toxicology.