Innovations and Implications in Molecular Diagnostics

Chapter 1. Evolution of Molecular Diagnostics: From Genetic Foundations to Modern Technological Innovations

Ibrahim A Almazni1*, Basmah Massad Alenzi2, Doha A. Albalawi3,4, Aishah latawi3

Chapter 2. Sample Handling in Molecular Diagnostics

Hanaa Ghabban1,2, Gourab Paul3, and Irshad Ahmad4*

Chapter 3. Polymerase Chain Reaction and Its Variants in Molecular Diagnostics

Anam Nayab1, Ahmed Waqas2, Musharraf Jelani3, Muhammad Umair4*

Chapter 4. CRISPR-Based Diagnostic Technologies

Asma Massad Alenzi 1,2 and Mohammed Tarique3*

Chapter 5. Next-Generation Sequencing (NGS)

Qamre Alam1*, Kadhem Juma Alkhenaizi1 Misbahuddin M Rafeeq2  and Ali Bin Thani3

Chapter 6. Nanotechnology-Based Diagnostics

Hani Alothaid

Chapter 7. Role of AI in Molecular Diagnostics

Abdullah Hamadi1*, Atif Abdulwahab A. Oyouni2, Osama M. Al-Amer3

Chapter 8. Molecular Diagnostics in Cardiovascular Diseases

Misbahuddin M Rafeeq1*, Muhammad Umair2 , Qamre Alam3  and Ali Bin Thani4

Chapter 9. Advancements in Cytogenetics for Molecular Diagnostics

Misbahuddin M Rafeeq1*, Muhammad Umair2 , Qamre Alam3  and Ali Bin Thani4

Chapter 10. Microfluidics and Lab-on-a-Chip Technologies

Ayyub Ali Patel

Chapter 11. Transcriptomics Analysis in Molecular Diagnostics

Amenah S. Al-otaibi1,2 , Marya Ahsan2 and Ayaz Khurram Mallick3*

Biography

Dr. Qamre Alam currently serves as a Medical Research Scientist and Laboratory Supervisor at the Molecular Genomics and Precision Medicine Department of ExpressMed Diagnostics and Research, located in Zinj, Kingdom of Bahrain. Previously, from 2019 to 2022, he held the position of Medical Research Scientist at the Medical Genomics Research Department at King Abdullah International Medical Research Center (KAIMRC), part of King Saud bin Abdulaziz University for Health Science, Ministry of National Guard–Health Affairs (MNGHA), Riyadh, KSA. Prior to that, he worked as a lecturer from 2011 to 2019 at the King Fahd Medical Research Center, King Abdulaziz University, Jeddah, KSA. Dr. Qamre Alam earned his M.Sc. from Jamia Hamdard University, New Delhi, India, and his Ph.D. in Biotechnology from JJTU, Rajasthan, India. He has an impressive publication record, with over 75 research articles in the fields of human genetics and cancer biology. Dr. Alam is a molecular geneticist with a strong research interest in rare genetic disorders. He has actively contributed to various projects related to rare genetic disorders and preventive genomic medicine, including Non-Invasive Prenatal Testing (NIPT) and Preimplantation Genetic Screening (PGS). Additionally, he serves as an Associate Editor and reviewer for several international peer-reviewed journals of high repute.

Dr. Misbahuddin Rafeeq is a distinguished physician, accomplished scientist, and dedicated medical educator. He earned his MBBS and MD degrees in 2009 from Aligarh Muslim University, India. Currently, he holds the position of Associate Professor at the Faculty of Medicine (Rabigh) within King Abdulaziz University, Jeddah, Saudi Arabia. Dr. Rafeeq is an esteemed member of the editorial boards of several reputable journals. His wealth of expertise has been showcased through his active participation in numerous scientific events spanning across regions such as India, Southeast Asia, Asia-Pacific, Europe, the UK, the Middle East, Africa, the Balkans, and the US. His outstanding contributions have earned him several prestigious awards, including the Excellent Leadership Award from the Islamic Development Bank in Saudi Arabia, the ESP fellowship from NIHES in the Netherlands, the Distinguished Achievement Award from KAU in Saudi Arabia, and the Bronze Prize from the Diabetic Congress in the USA. Dr. Rafeeq is affiliated with esteemed organizations and scientific societies, including RCPEdin and the Faculty of Pharmaceutical Medicine at RCP London, ACCP and ASPET in the USA, ISoP, and the Royal Society of Medicine in the UK. Additionally, he serves as an honorary consultant on various educational boards and holds the position of International Secretary for SoPI in India. Dr. Rafeeq boasts an impressive publication record with over sixty high-impact and indexed publications to his credit. Furthermore, he has secured funding for several large grants, where he has served as both a Principal and Co-Investigator. His research primarily focuses on the identification of novel genetic mutations in hereditary syndromes, the exploration of novel therapeutic targets and proteins through molecular docking, PK/PD, and toxicity studies, the study of the effects of natural compounds on animal models, and the broader field of lipid pharmacogenomics.

Dr. Muhammad Umair currently holds the position of Research Scientist and serves as the Team Leader of Functional Studies at the Medical Genomics Research Department within the King Abdullah International Medical Research Center (KAIMRC), part of King Saud bin Abdulaziz University for Health Science, Ministry of National Guard–Health Affairs (MNGHA) in Riyadh, Saudi Arabia. Additionally, he serves as a "Research Advisor" at the Department of Life Sciences within the School of Science at the University of Management and Technology (UMT) in Lahore, Pakistan. Dr. Umair is a molecular geneticist with a particular focus on rare genetic disorders (RGDs). His research involves multiple projects dedicated to rare genetic disorders and therapeutic genetics. He is currently engaged in research initiatives such as the Genetics and Rare Disease Program, Genetic and Functional Characterization of Rare Skeletal Disorders (GSDs), Genodermatosis, Preventative Genome Medicine for Inherited Genetic Disorders, Functional Characterization of Genes Associated with Neurodevelopmental Disorders (NDDs), Genetic and Rare Disease Registry, and Therapeutic Genomics. Dr. Umair earned his M.Sc., M.Phil, and Ph.D. in Biochemistry/Molecular Biology, specializing in Human Molecular Genetics, from Quaid-i-Azam University in Islamabad, Pakistan. His extensive contributions to the field are reflected in his publication record, which comprises over 190 research articles in the domain of human genetics. He also actively participates as an Associate Editor and reviewer for several international peer-reviewed journals. In recognition of his outstanding achievements in genetics, Dr. Umair was honored with the 2nd Dr. Sajjad Aslam Shami Gold Medal in Genetics by the Applied Zoological Society of Pakistan (AZSP) in March 2021.