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 $136
Printed Copy: US $96
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

Introduction

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.

Audience:

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

Preface

Human inherited disorders have been the focus of attention for a long time. Various books have been written with a focus on classical genetic approaches, clinical diagnostic strategies, and counselling, management strategies. With the emergence of Next-generation techniques, a new era was started and lots of developments have occurred in Human Genetics. The perspective has also been widened with emerging OMICS technologies. An integrated approach is being used not only for diagnosis but also for management and therapeutic purposes. This book is an effort to highlight and compile various emerging areas of OMICS technology and its application in the diagnosis and management of human genetic disorders.

The book is planned with three areas of research and implementation i.e., Diagnosis covering conventional strategies to next-generation platforms. This section focuses on the role of Insilco analysis, databases and multi-omics of single-cell which will help in designing better management strategies. Section II covers management and therapeutic interventions starting with genetic counselling and then including more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. Section III focuses on case studies and discusses the applications and success of all the above-mentioned strategies on selected human disorders.

Syeda Marriam Bakhtiar
Department of Bioinformatics and Biosciences
Faculty of Health and Life Sciences
Capital University of Science and Technology
Islamabad
Pakistan

&

Erum Dilshad
Department of Bioinformatics and Biosciences
Faculty of Health and Life Sciences
Capital University of Science and Technology
Islamabad
Pakistan