Bøger i Colloquium Series on Genomic and Molecular Medicine serien

Reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt.

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI.

This review draws attention to the potential diagnostic and therapeutic implications of genomic and transcriptional profiling in heart failure and translational genomics research that is likely to permit greater personalization of prevention and treatment strategies to address the complexities of managing clinical heart failure.

Recent genome-wide association studies have identified various loci and genes that confer susceptibility to ischemic stroke or intracranial aneurysm. Such studies may provide insight into the function of implicated genes as well as into the role of genetic factors in the development of ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage.

Current knowledge of the etiology of congenital malformations of the human gastrointestinal tract is covered in this book, prefaced by some introductory notes on embryological development. Malformations involving the esophagus, stomach, small and large intestine, anus and rectum, pancreas, and hepato-billiary system are covered.

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This book provides an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes recent developments in this field and some promising on-going clinical trials.

Summarises both current clinical management of motor neuron disease (MND) and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.