Gene regulatory elements -- The Hemoglobin regulatory regions -- Regulatory polymorphisms and osteoporosis -- Gene regulation in Van Buchem disease -- Cis-regulatory enhancer mutations are a cause of human limb malformations -- Regulatory mutations leading to cleft lip and palate -- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence -- Regulatory mutations in human hereditary deafness -- The contributions of RET non-coding variation to Hirschprung disease -- Cis-regulatory variation and cancer -- Cohesin and human diseases -- Epigenetics and human disease -- Index.

Genes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease.With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease.