Centre researcher has book published


Mar 10 Genetics of Mental Retardation book cover

A book on the genetics of mental retardation has just been published, edited by Dr Samantha Knight, a research group head at the Wellcome Trust Centre for Human Genetics (WTCHG), University of Oxford.

This publication explains the importance of genetics in mental retardation, reviewing how molecular diagnostic capability and the understanding of genetic causes have advanced over recent years. The significance of these advances is so considerable that they are changing conventional approaches to the clinical evaluation of patients and diagnostic laboratory practice in an unprecedented way.

The book begins with an insightful chapter from a parent sharing her experiences bringing up her daughter with the condition, leading the way for remaining chapters compiled by world class clinical diagnostic and research-based experts in the field. Together, these review a wide range of relevant topics including nomenclature, well-known syndromes, technological advances, the importance of genome architecture, clinical evaluation guidelines, database resources, challenges of data interpretation, genetic overlaps with autism and schizophrenia and processes of health service implementation.

For more information see:


Dr Knight is funded by the NIHR Biomedical Research Centre, Oxford and supported by The Wellcome Trust.

For more information on Dr Knight's research, click here.