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Pediatric Neurology
Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis in the Western world. The pathogenesis of HSE, which affects a small minority of HSV-1-infected individuals, has long remained elusive. Mendelian defects in the TLR3-interferon (IFN) and IFN-responsive pathways were recently shown to predispose to HSE, at least in some children. Autosomal recessive STAT-1 deficiency and X-linked NEMO deficiency were found in children with both mycobacterial disease and HSE. Autosomal recessive UNC-93B deficiency and autosomal dominant TLR3 deficiency were then described in children with isolated HSE. These discoveries provided proof-of-principle that HSE may result from a novel group of single-gene inborn errors of interferon (IFN)-mediated immunity. The TLR3–UNC-93B-dependent production of IFN-α/β and IFN-λ is essential to confer protective immunity to HSV-1 in the central nervous system during the course of primary infection in childhood.
The Year in Human and Medical Genetics
The latest edition of The Year in Human and Medical Genetics is focused on exploring new trends in Mendelian genetics. While Mendelian genetics is often seen as an out-dated discipline of interest to rare patients and few scholars, there have been many ground-breaking discoveries have been made in Mendelian genetics in the last decade. Single-gene defects of known Mendelian phenotypes have been deciphered, and novel diagnostic and therapeutic means have been devised, thanks to these studies. Moreover, novel phenotypes have been explored from a Mendelian angle, including common phenotypes. This volume captures the most important topics in Mendelian genetics through thought-provoking reviews t...
Welcome to the Microbiome
Inspired by an exhibition at the American Museum of Natural History in New York, explores microbes and their implications for modern science and medicine.
Susceptibility to Infectious Diseases
In the last ten years, substantial progress has been made in identifying why some people are particularly susceptible to specific infectious diseases. Extensive evidence has now accumulated that host genes are important determinants of the outcome of infection for many common pathogens. This book, written by leading authorities, summarises the advances which have been made in understanding the complexity of host genetic susceptibility. The diseases covered include those of great public health inportance such as malaria and HIV, and those of current topical interest such as Creutzfeldt-Jakob disease.
Philosophy of Molecular Medicine
Philosophy of Molecular Medicine: Foundational Issues in Theory and Practice aims at a systematic investigation of a number of foundational issues in the field of molecular medicine. The volume is organized around four broad modules focusing, respectively, on the following key aspects: What are the nature, scope, and limits of molecular medicine? How does it provide explanations? How does it represent and model phenomena of interest? How does it infer new knowledge from data and experiments? The essays collected here, authored by prominent scientists and philosophers of science, focus on a handful of mainstream topics in the philosophical literature, such as causation, explanation, modeling, and scientific inference. These previously unpublished contributions shed new light on these traditional topics by integrating them with problems, methods, and results from three prominent areas of contemporary biomedical science: basic research, translational and clinical research, and clinical practice.
Vogel and Motulsky's Human Genetics
The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
