Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches

A new book in the Translational and Applied Genomics series, Genomics of Rare Diseases, provides a comprehensive understanding of current knowledge on rare diseases through a genomics lens. It discusses challenges and opportunities for improving disease understanding and treatment, with leading chapter authors discussing karyotyping and genomic sequencing approaches for various conditions.

Format: Paperback / softback
Length: 316 pages
Publication date: 25 June 2021
Publisher: Elsevier Science Publishing Co Inc

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a groundbreaking new volume in the Translational and Applied Genomics series, provides readers with a comprehensive and up-to-date understanding of rare diseases through the lens of genomics. This comprehensive guide delves into the latest molecular and genomic technologies employed to unravel the molecular underpinnings of over 5,000 genetic disorders, bringing readers closer to deciphering the mysteries of countless undiscovered conditions. Moreover, the book addresses the challenges and opportunities inherent in conducting rare disease research, shedding light on the intricate architecture and pathophysiology of these conditions.

Leading experts in the field contribute insightful chapters that explore innovative approaches such as karyotyping and genomic sequencing, enabling improved diagnosis and treatment of diverse disorders including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders, and mosaicism.

By leveraging the power of genomics, this book empowers readers with a deeper comprehension of rare diseases, paving the way for groundbreaking advancements in medical research, personalized medicine, and patient care.

Weight: 658g
Dimension: 192 x 231 x 24 (mm)
ISBN-13: 9780128201404