Emery and Rimoin's Principles of Practicing Medical Genetics

Written for the practising clinician, the fourth editon of this three-volume classic remains the only comprehensive resource in the field. Prepared by internationally recognized authorities, it covers the basic principles of genetics, but emphasises their application in the clinical environment accross the full spectrum of inherited disorders. It is essential for clinical geneticists, but is also accessible to other specialists needing expert guidance on the diagnosis and management of genetic disorders.

Why is this still the best book on Clinical Genetics?

The only book to provide clinically-oriented coverage of all genetically-based diseases - everything you need in one place

It bridges the gap between molecular genetics and clinical practice

Strong emphasis on issues of daily relevance to the practising clinician, ie screening, diagnosis, treatment, counselling - '80% of its pages are devoted to a comprehensive clinical coverage of genetic disorders' - Trends in Genetics

Disorders grouped by organ-system giving speedy access to the information relevant to your practice

Consistent chapter structure allows quick access to key facts - 'properly organised' - NEJM

An up-to-date human gene map contributed by Victor McKusick

'References to the primary literature make this book a must...' - NEJM

• Dr Bruce Korf, both a neurologist and geneticist, has fully up-dated the neurogenetics material
• Many new authors added to maintain a fresh, up-to-date perspective
• All 159 chapters completely revised and up-dated, many completely re-written, reflecting the rapid change in medical genetics and ensuring all information is cutting edge - 'well written' - NEJM
• 16 new chapters added - see contents list

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.

Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.