Böcker i Colloquium Series on The Genetic Basis of Human Disease-serien

Takes the reader on an incredible journey to explore the exciting discoveries in genetics and molecular biology. The reader will embark on a genetic odyssey starting with the "Father of Genetics", Gregor Mendel, leading on to the story of photo 51 and the discovery of the structure of the DNA double helix, and culminating with the invention of the polymerase chain reaction.

This title sketches a path through the potential phases and avenues of a scientific career, imagining that a person may do basic research, serve on ethics committees, and engage the public in ethical use of new advances in genetics. The aim is to help students find a moral compass, a grounding of why one ought to behave in ethical ways in their profession.

I had the good fortune to work at the National Cancer Institute from 1965 to 2005. The National Cancer Institute provided an environment that permitted my curiosity to flourish. The work described in this manuscript was performed during a period of rapid advances in genetics. I was able to apply my clinical training and new genetic tools to study human kidney cancer.

X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most frequent peroxisomal disorder, with an estimated incidence of 1:17,000. This complex neurodegenerative disorder is characterized by a huge clinical variability both in the age of onset and in symptoms.

Epilepsy affects approximately 3% of the population, and is usually defined as a tendency to experience recurrent seizures arising from periodic neuronal hyperexcitability of unknown causes. Different genetic factors, through various mechanisms, can cause this abnormal neuronal behaviour. The etiology of epilepsy is a major determinant of clinical course and prognosis.

Provides an overview of the progress made in molecular medicine applying genetics and genomics to the understanding, diagnosis, and treatment of human diseases. Specifically, the methods for identifying genes involved in human diseases are described. Examples from 10 genes and diseases are provided, drawing on the author's research.

Explores the exciting discoveries in genetics and molecular biology. This volume takes the reader on a journey to explore the frontiers of genetic diversity, gene cloning, the human journey, and the human genome project. The book is targeted at undergraduate non-majors and also as a "companion" to a standard genetics textbook for biology majors.