Editors: Syeda Marriam Bakhtiar, Erum Dilshad

Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

eBook: US $79 Special Offer (PDF + Printed Copy): US $126
Printed Copy: US $87
Library License: US $316
ISBN: 978-981-5079-52-4 (Print)
ISBN: 978-981-5079-51-7 (Online)
Year of Publication: 2022
DOI: 10.2174/97898150795171220101


Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes.

This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation:

  • - Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies.
  • - Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine.
  • - Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders.

This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.


Students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.


Human diseases especially genetic disabilities have always been a focus of research. Research on genetics and molecular genetics has contributed extensively to improving the overall quality of life and management of patients suffering from genetic diseases. With the onset of Omics and Next generation technologies (NGS), the dream of personalized medicine has almost come to reality. Technological advances in the domains of genomics, transcriptomics, proteomics and metabolomics have enabled scientists to explore the genetic and molecular causes in extraordinary detail. These technologies have contributed immensely to advancements related to early and efficient diagnosis, which have revolutionized clinical practices. Despite the contribution of these technologies, it is always felt that none of these technologies alone have the potential to cope with the biological complexity of human diseases. The integration of multiple technologies and a combination of diverse data types is the new approach that has the potential to provide a more comprehensive understanding of biological systems controlling the onset, progression and impact of diseases.

Initially, the focus of research has been on the early diagnosis and methods by which the symptoms of the disease could be eased off. Gene Therapy, personalized medicine, and precision medicine are very promising concepts but there have always been concerns about the access of the general public to these approaches as well as the application for diverse genetic diseases including rare and common diseases, multifactorial diseases including cancers. Omics Technologies have not only provided the scientists with better opportunities for correct diagnosis but also expanded the options for treatment including gene therapy, pharmacogenomics, single-cell omics, regenerative medicine, stem cell technologies and many more. Integrative approaches utilizing engineering and informatics have also widened the knowledge base required for appropriate treatment and management approaches.

This book compiled and edited by scientists working in various domains of genomics and human genetics will not only provide the researchers with new approaches in conventional methods of genetics-based diagnosis and counselling but will also open new avenues for further exploration of genetic causes and treatment options. This book is a great effort to document state-of-the-art techniques and technologies for disease prediction and early diagnosis to disease treatment and prognosis using integrative Omics.

Shahid Mahmood Baig
Department of Biological and Biomedical Sciences,
Agha Khan University, Karachi
Chairman, Pakistan Science Foundation