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'An Introduction to the Genetics and Epigenetics of Human Disease' by Professor Marcus Pembrey, published by the Progress Educational Trust An Introduction to the Genetics and Epigenetics of Human Disease

By Professor Marcus Pembrey (PET Chair of Trustees)

Published by the Progress Educational Trust (PET), with the generous support of Linklaters

This publication can be downloaded for free as a .pdf document (1.52MB) here.

Why do some people live a long and healthy life, whilst others develop life-threatening, chronic diseases in mid-life, or indeed are born with a disorder? Disease affects us all. Sequencing the first human genome in 2003 was a landmark scientific discovery, promising a revolution in medicine and treatment of disease.

This booklet aims to provide a basic introduction to the role of genetics and epigenetics in diseases ranging from the well known (breast cancer and eczema) to the more rare (Fragile X and Angelman syndromes). It begins by examining conditions where there is a single faulty gene to blame, and moves on to diseases where there are likely to be many contributing factors, including one’s early developmental experience and the prevailing social and physical environment.