Genetic Basis of Disease

SERIES EDITOR:
Michael Dean, Cancer Researcher, Frederick, Maryland
This series explores the genetic basis of human disease, documenting the molecular basis for rare, common, Mendelian, and complex conditions. The series discusses the fundamental principles in understanding concepts such as Mendel’s laws of inheritance, and genetic mapping through modern examples. In addition, current methods (GWAS, genome sequencing) and hot topics (epigenetics, imprinting) will be introduced through examples of specific diseases.

Series ISSNs: 2168-4006 (print) and 2168-4022 (electronic)

Editor Bios


From Gene to Therapy From Gene to Therapy
Michael Dean
This Colloquium Lecture 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...
Publication Date: September, 2017

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Science and Ethics in Dialogue Science and Ethics in Dialogue
Ann Boyd
This is 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. As a result the content of th...
Publication Date: October, 2015

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A Journey Through Genetics, Part II A Journey Through Genetics, Part II
Karobi Moitra
A Journey Through Genetics Part II is designed to continue on the incredible journey initiated in Part I to explore the exciting discoveries in genetics and molecular biology. In Part I, the reader embarked on a genetic odyssey that started wi...
Publication Date: 09/01/2014

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A Journey Through Genetics, Part I A Journey Through Genetics, Part I
Karobi Moitra
A Journey Through Genetics is designed to take the reader on an incredible journey to explore the exciting discoveries in genetics and molecular biology. In Part I, the reader will embark on a genetic odyssey starting with the "Father of Genetics," G...
Publication Date: 11/01/2013

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From Immunotherapy of Cancer to the Discovery of Kidney Cancer Genes From Immunotherapy of Cancer to the Discovery of Kidney Cancer Genes
Berton Zbar
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. Colleagues, particularly Marston Linehan, were essential to performance ...
Publication Date: 03/01/2013

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X-linked Adrenoleukodystrophy X-linked Adrenoleukodystrophy
Stephane Savary, Doriane Trompier
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 ...
Publication Date: 03/01/2013

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Genetics of Epilepsy and Refractory Epilepsy Genetics of Epilepsy and Refractory Epilepsy
Alberto Lazarowski, Liliana Czornyj
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 ...
Publication Date: 03/01/2013

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ABC Transporters in Human Disease ABC Transporters in Human Disease
Karobi Moitra
The ATP-binding cassette (ABC) transporter genes are ubiquitous in the genomes of all vertebrates so far studied. The human ABC transporter superfamily contains 48 genes, subdivided into 7 subfamilies ranging from A to G (based on sequence homology o...
Publication Date: 04/01/2012

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