Preface

Abstract

THE YEAR IN HUMAN AND MEDICAL GENETICS 2009 Preface This is the inaugural volume in a series entitled The Year in Human and Medical Genetics, one of a growing number of annual review series in different subject areas published within the Annals of the New York Academy of Sciences. Most academic libraries have online access to the Annals, so most of academia has convenient and full online access to the reviews in this volume and the series, just as it has to the rest of the scholarly journals, courtesy of local academic libraries. The first chapter in this volume presents some of the highlights of the year. Additional contributions to this volume cover a broad range of topics, including developmental defects, malformations and dysmorphology, enzyme deficiency and neurobehavioral dis- orders, and epidemiology. Authors have included current information on aspects of em- bryogenesis, genome architecture, chromatid formation, gene regulation, and structure and function of ion channels. Dale Dorsett and Ian Krantz review Cornelia de Lange syndrome and cohesin struc- ture and function. Their studies have shed light on the large number of proteins involved in sister chromatid cohesion and on the genetic heterogeneity of Cornelia de Lange syndrome. They also present exciting evidence on the roles played by these proteins in regulation of gene expression. Philip Giampietro and colleagues review advances in our understanding of molecular embryology and genetics of vertebral development and etiology of malformations of the spinal column. They provide a fascinating description of gene action and the segmenta- tion clock that controls somitogenesis in the embryo. Also included in their review is a discussion of environmental factors that interact with genetic factors in the pathogenesis of specific vertebral anomalies. Reviews of Cornelia de Lange syndrome and vertebral anomalies provide examples of the importance of studies of other organisms in generating information required to promote our knowledge of the pathogenesis of human malformation syndromes. Abnormalities of sexual development are discussed in two contributions, in the paper by Michele Ramsay and colleagues, and in the review of highlights of the year. Michele Ramsay and colleagues present cases of true hermaphroditism and the molecular studies they carried out that led to diagnosis of XX/XY chimerism. They present an interesting analysis of the mechanism of the origin of chimerism. Izelle Smuts and colleagues present a case study of the lysosomal storage disorder mucolipidosis type III, and they include a brief review of the molecular defects in the mucolipidoses. The case they present is striking in its revelation of the degree to which function and behavior in a child are influenced by pain and how allevi- ation of that pain may lead to dramatic improvement in these areas. The problem of recurrence of symptoms in this case lurks ominously. Cases such as these spur on our endeavors to search for successful therapeutic interventions with long-term effects. The Year in Human and Medical Genetics 2009: Ann. N.Y. Acad. Sci. 1151: ix–x (2009). C 2009 New York Academy of Sciences. doi: 10.1111/j.1749-6632.2008.03609.x ix