The Human Genome: Biology and Medicine

ISBN-13: 9783662046692 / Angielski / Miękka / 2013 / 141 str.

A. Rosenthal;L. Vakalopoulou

Opis

In February 2001, two separate teams published the first working drafts of the entire human genome, marking an achievement that is certainly one of the seminal developments in our understanding of human biology. A grasp of the function of each gene will radically change how we diagnose and prevent diseases and adminster treatments. But the drive to turn the completed sequence into practical knowledge is fraught with complexity. This volume, a summary of the eponymous symposium, gives the student and practitioner alike insight into some of the challenges this new science faces and the lessons it has already taught us. Included are presentations by several leading experts in the field, among them Ian Dunham and Jean Weissenbach.

Spis treści

1 Human Genome Project: Past, Present, Future.- 2 Genome-wide Comparisons Between Human and Tetraodon.- 3 Lessons from the Sequence of Human Chromosome 22.- 4 ATM: From Phenotype to Functional Genomics — And Back.- 5 The Genetics of Deafness: A Model for Genomic and Biological Complexity.- 6 Incontinentia Pigmenti: The First Single Gene Disorder Due to Disrupted NF-kappaB Function.- 7 In Search of New Disease Models in the Mouse Using ENU Mutagenesis.