Progress - Does Genetics Matter? Help, Hype and the New Horizon of Epigenetics

Does Genetics Matter? Help, Hype and the New Horizon of Epigenetics

Progress Educational Trust
Clifford Chance, 10 Upper Bank Street, London E14 5JJ, UK
18 November 2009 -

The 2009 annual conference of the Progress Educational Trust (PET), supported by the Medical Research Council and Clifford Chance.

As genetics vies with stem cells for centre stage in human biomedical research, there are dangers of both overselling future benefits (for example, the power of personal genomics) and overlooking past triumphs (for example, help for families threatened by serious monogenic/Mendelian disease). PET's 2009 annual conference provided a critical examination of the current state of play in human genetics.

It was the first public event to address epigenetics before a mixed lay and specialist audience, and it featured exciting new insights into the epigenetic capture of early developmental experience and how this might explain the link between fetal/childhood adversity and later risk of adult disease. The conference was reported in the British Medical Journal.

Session 1

Introduction to the conference

Does Genetics Matter? Help, Hype and the New Horizon of Epigenetics
Marcus Pembrey
Founding Chair of Trustees at PET and Emeritus Professor of Paediatric Genetics at University College London's Institute of Child Health

Session 2

Families with Monogenic Disease

Monogenic diseases showing Mendelian patterns of inheritance are rare when considered individually, but taken in the aggregate they affect a significant minority of the population. This proportion only increases when one considers family members, who may not suffer directly from monogenic diseases, but fear developing them or transmitting them to their offspring. Families benefit greatly from accurate genetic diagnosis, counselling, carrier testing and the offer of prenatal or preimplantation genetic diagnosis, all of which are now possible as a result of genetic research including completion of the Human Genome Project. The timescale for developing effective gene therapy has been exaggerated, but there is progress.

Introductions

The Importance of Information
Dian Donnai
Professor of Medical Genetics at the University of Manchester
A Winning Candidate Gene for Eczema and Allergic Asthma
Irwin McLean
Professor of Human Genetics and Head of Molecular Medicine at the University of Dundee
Progress in Gene Therapy
Adrian Thrasher
Professor of Paediatric Immunology and Director of the Centre for Immunodeficiency at University College London's Institute of Child Health

Chair

Dr Christine Patch
Chair of the British Society for Human Genetics and Consultant Genetic Counsellor and Manager at Guy's Hospital

Session 3

Genetic Susceptibility to Common Complex Disorders

The most popular approach to genetic studies of common complex disorders such as diabetes and coronary artery disease has been the genome-wide association study. This involves examining the entire genome without a specific hypothesis in mind, merely looking for replicable associations between genetic variation and a given disorder. This approach has identified many genetic variants that are a demonstrable factor in the risk of inheriting a particular complex disorder, but variants identified in this way tend only to account for a small proportion of the heritable component of such disorders. Does 'missing heritability' suggest that the genetic component of common complex disorders has been overestimated?

Introductions

The Future of Personal Genomics
Sir John Burn
Professor of Clinical Genetics and Head of the Institute of Human Genetics at Newcastle University
'Common Genes for Common Diseases' - or Not?
Steve Jones
Professor of Genetics and Head of Genetics, Evolution and Environment at University College London
What Exactly Have We Learned from Genome-Wide Association Studies?
Mark McCarthy
Professor of Diabetic Medicine at the Oxford Centre for Diabetes, Endocrinology and Metabolism and Head of the McCarthy Group at the Wellcome Trust Centre for Human Genetics
Evaluation and Regulation of Personal Genomics
David Melzer
Professor of Epidemiology and Public Health at the Peninsula Medical School and visiting scientist at the Laboratory of Epidemiology, Demography, and Biometry at the US National Institute on Ageing

Chair

Steve Humphries
Professor of Cardiovascular Genetics and Director of the Centre for Cardiovascular Genetics at University College London

Session 4

Epigenetics: Responding to Life by Switching Genes On and Off

Does the genome-wide association study's focus on DNA differences overlook the dynamic, responsive aspects of genes in action? Not all genes are active in all tissues all of the time. They are activated or silenced according to the needs of particular cells or the whole organism during development, and in response to the prevailing nutritional, physical or social environment throughout early life. There is short-term regulation of gene activity, and there are enduring changes in gene activity during growth and development that help shape an individual's constitution and future health. Epigenetics is the study of these enduring patterns of gene activity across the genome, and what triggers them.

Introductions

Beyond A, C, G and T: Epigenetics and Psychiatric Disorders
Dr Jonathan Mill
Lecturer in Psychiatric Epigenetics at the Social, Genetic and Developmental Psychiatry Centre, a multidisciplinary partnership between the Medical Research Council and King's College London's Institute of Psychiatry
Epigenetics and Early Life Experience
Marcus Pembrey
Founding Chair of Trustees at PET and Emeritus Professor of Paediatric Genetics at University College London's Institute of Child Health
The Influence of Parents: Epigenetics and Genetic Imprinting
Karen Temple
Professor of Medical Genetics at the University of Southampton

Chair

Dian Donnai
Professor of Medical Genetics at the University of Manchester

Session 5

So Are We Making Progress?

The conference concluded with a discussion that recapitulated points from earlier sessions, and asked what all of this means in practice. Will 'genetic determinism' be replaced by 'epigenetic determinism', and become yet another thing to blame one's parents for? Or will discoveries of the molecular mechanisms underlying the interplay between inheritance and the prevailing environment during development lead to a more nuanced understanding of nature and nurture?