Clinical Molecular Medicine: Principles and Practice presents the latest scientific advances in molecular and cellular biology, including the development of new and effective drug and biological therapies and diagnostic methods. The book provides medical and biomedical students and researchers with a clear and clinically relevant understanding on the molecular basis of human disease. With an increased focus on new practice concepts, such as stratified, personalized and precision medicine, this book is a valuable and much-needed resource that unites the core principles of molecular biology with the latest and most promising genomic advances.
- Illustrates the fundamental principles and therapeutic applications of molecular and cellular biology
- Offers a clinically focused account of molecular heterogeneity
- Includes comprehensive coverage of many different disorders, including growth and development, cardiovascular, metabolic, skin, blood, digestive, inflammatory, neuropsychiatric disorders, and many more
Medical and biomedical students, clinicians and scientists who are expected to have a clear and clinically relevant understanding of the molecular basis of human disease to practice evidence-based clinical medicine
Section I Fundamentals of Molecular and Cell Biology
1. Genes, genome and chromosomes
2. Cellular structure and molecular systems
3. RNA, Transcription factors and Ribosome
4. Proteins and Proteomics
5. Mitochondria and oxidative phosphorylation
6. Reproductive and developmental molecular biology
7. Genomic variation, molecular basis of evolution, comparative molecular biology
8. Bioinformatics and systems biology
Section II Molecular basis of human disease
9. Molecular basis of growth disorders: Primordial growth disorders; Overgrowth and asymmetric growth disorders
10. Developmental disorders: major molecular groups and malformations: transcriptionopathies, spliceopathies, ciliopathies, RASopathies, nuclear envelopathies and many others.
11. Disorders of sexual differentiation: Mullerian and anti-Mullerian hormones and steroids/ androgens.
12. Disorders of cardiovascular development and circulation: TBX molecular system, notch signaling pathway, sarcomere proteins, vascular endothelial growth factors and transforming growth factors.
13. Disorders of lipids: familial hypercholesterolemia, complex hyperlipidemia and other rare disorders.
14. Disorders of glycemic metabolism and regulation: Diabetes mellitus & Obesity- Mendelian and complex disorders.
15. Disorders of brain development: microcephaly, holoprosencephaly, lissencephaly and neuronal migration disorders.
16. Lysosomal and other storage disorders of the nervous system: Tay Sachs; Mucopolysaccharidoses; Gaucher’s disease; Fabry’s disease; Glycogen storage diseases and other rare examples.
17. Molecular basis of childhood autism, learning / intellectual difficulties and attention deficit hyperactivity disorder.
18. Disorders of ion-channels: Epilepsy and Cardiac arrhythmias.
19. Disorders of eye development, ocular structure and function; cataracts, choroidoretinal disorders and glaucoma.
20. Disorders of cranio-facial development: fibroblasts, fibroblast growth factors and fibroblast growth factor receptors.
21. Molecular basis of hearing loss: connexins and auditory neuro-receptors
22. Disorders of bone and joints: abnormal collagen- structure and function; calcium and vitamin D regulation and homeostasis.
23. Disorders of voluntary (skeletal muscle): Dystrophin, Sacroglycans and other molecular structures in muscle function.
24. Disorders of skin and appendages: Keratin and other dermal molecular structures.25. Disorders of immune function: T-cell, immunoglobins and tissue-host response.
26. Disorders of abnormal hemoglobin structure and function: sickle cell disease, beta thalassemia, alpha thalassemia, hemochromatosis and abnormal iron storage.
27. Disorders of blood groups: ABO incompatibility, Rhesus iso-sensitization and rare blood groups
28. Disorders of coagulation and bleeding: abnormal platelet structure and function; Hemophilia & van Will brand disease: rare clotting disorders.
29. Molecular basis of respiratory disorders: bronchial asthma, pulmonary failure and high altitude living.
30. Disorders of digestion and nutrition including molecular basis of inflammatory bowel disease
31. Molecular basis of inflammatory disorders (cytokines, and interferon): rheumatoid arthritis, systemic lupus erythmematosis and other disorders.
32. Molecular basis of Infectious diseases: human immunodeficiency virus (HIV), Tuberculosis, Malaria, Influenza, Oncogenic viruses, Parasites, Microbial response- susceptibility and protection, Anti-microbials and Vaccines.
33. Molecular basis of neoplasia: oncogenes, tumor suppressor genes, DNA repair and hematologic malignancies (leukemias and lymphomas)
34. Molecular basis of neuro-degenerative disorders: Huntington’s disease, Spino-cerebellar ataxias, Motor Neuron Disease, Multiple sclerosis and others.
35. Molecular basis of renal and urinary structural and functional disorders
36. Molecular basis of neuro-psychiatric disorders: Depression, Bi-polar disorder, Schizophrenia, Alzheimer’s and other dementia disorders (Taupathies, abnormal proteins in amyloid plaques and neurofibrillary tangles).
37. Molecular basis of ageing and apoptosis: premature aging-progenies.
Section III Molecular therapeutics
38. Genomics and molecular biology applications for new drug design and development
39. Molecular basis of adverse drug reactions and favorable drug response
40. Targeted molecular therapy
41. Gene and Cell therapy including anti-sense oligonucleotide therapy
42. Stem cell and regenerative medicine
43. RNA-Interference therapy
44. Pharmacogenetics/pharmacogenomics and Personalized Medicine
45. Stratified and Precision Medicine including Nanomedicine
- No. of pages:
- © Academic Press 2019
- 1st June 2019
- Academic Press
- Hardcover ISBN:
Professor Kumar has considerable previous experience in writing and editing books and journals related to genetics and genomics. His books include Genomics and Clinical Medicine and Genomics and Health in the Developing World. He founded and leads the new open access journal Applied and Translational Genomics, published by Elsevier. He has published 40 articles in the journals literature.
Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King George’s Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. In 1990 he became a Diplomate of the American Board of Medical Genetics. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK).
In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King George’s Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.
University Hospital of Wales, Cardiff, UK