Monogenic Diabetes From Genetics And Cell Biology To Clinical Practice

This text fuses science and medicine, clearly demonstrating the clinical relevance of microbiology, and the way in which this rapidly emerging discipline is beginning to reshape the way disease is investigated and how patients are screened, diagnosed and treated. The first part of the book summarises knowledge of basic cell biology with clear and lucid descriptions of how genes work and how the study of human variation and heredity is applied to medical practice. A detailed analysis of Heamophilia A provides a paradigm for the use of molecular biology in the study and treatment of inherited disease. The second section takes the reader through the systematic approaches to studying genes, and provides an entry point for clinicians and researchers who wish to investigate a disease themselves or interpret the experiments of others. The third section shows how molecular biology has been used in medical research to investigate the mechanisms of common diseases; and the final section identifies areas where molecular biology has been used to diagnose and treat disease. It looks at the principles and practice of gene therapy and the design and production of recombinant products for medical use. The book closes with a description of how molecular biology has impinged upon prenatal diagnosis, and the ethical considerations which this raises.

Diabetes mellitus, one of the most prevalent complications during pregnancy, can cause a range of problems for women and their developing babies. The number of types of diabetes during pregnancy has dramatically increased worldwide in recent years. Obesity is a very common risk factor for the development of GDM and type 2 diabetes. To prevent birth defects and other health problems, optimal healthcare before and during pregnancy is mandatory. To reach this goal, a multidisciplinary approach is of major importance. This book presents the latest knowledge on the physiopathology, diagnosis, autoimmunity, genetics, omics, and management and treatment of diabetic pregnancy. Renowned healthcare professionals and academic experts provide insights into the complexity of diabetic pregnancy, its treatment, and pregnancy complications. This is a comprehensive overview of the clinical characteristics of pregnancy-related type 1 and 2 diabetes as well as of gestational diabetes. It is a must-read for everyone involved in the monitoring of diabetes during pregnancy.

Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

The glucose-phosphorylating enzyme glucokinase (also known as hexokinase IV) plays a preeminent role as a glucose sensor and regulatory metabolic enzyme. The implications of this central position of glucokinase for the understanding and treatment of diabetes mellitus are far reaching. This book addresses the molecular and human genetic, as well as the physiological-chemical and pharmacological aspects of the role glucokinase plays in glucose homeostasis and diseases of glucose metabolism, and how the enzyme serves as the drug target for the treatment of diabetes mellitus. The collection of assays by a team of internationally renowned authors includes basic science chapters dealing with the enzymology, structure and the kinetics of hexokinases, essays describing the biochemical genetics of glucokinase-linked hypo- and hyperglycemia syndromes, and papers that discuss the diverse roles of the enzyme in a variety of tissues. Finally, the book contains the latest information on the recently discovered class of weight drugs that activate glucokinase (i.e. glucokinase activators or GKAs). This volume is of great interest to basic and clinical diabetes researchers, geneticists, biochemists, physiologists and pharmacologists.