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Genetic variation plays an important role in individual susceptibility to many common diseases. New insights into genetic variants which modulate gene expression allow us to better understand why people develop these diseases. We can then target treatments much more effectively. Ultimately, we will be able to identify patients at risk of developing disease.

Q: Julian, how much can we blame our genes when we fall ill?

JK: That really depends on the disease that we're talking about. There are some diseases which are relatively rare and run very clearly in families, such as cystic fibrosis or Huntington's disease, where there are particular genes and mutations in those genes that have a very major effect and are responsible for the disease. There are other diseases which are much more common, such as diabetes or asthma, where the effects of individual genetic variants are relatively small but cumulatively when we think about the many different genes that can be involved they can have quite a large effect.

Q: What are our current tools to map genes with disease susceptibility?

JK: Well we live in really exciting times in genetics at the moment and there have been some very rapid technological advances that have meant that over the last 10-15 years we now have the sequence of the human genome. We are now able to identify genetic changes between different patients and we can do this for hundreds and thousands of different genetic variants in a given patient. This has meant that over the last few years it's been possible to begin to understand the genetic basis of common disease by studying thousands of patients with a particular disease and comparing the genetic variation in those patients with controls. That's highlighted how we now realize that many genes can be involved in a particular disease and genetic variants of those genes.

Q: You are interested in genetic variation of genes involved in immunity and information. How can this help patients?

JK: I think that immunity and information are really at the heart of many different diseases. What we try and do in our research is to understand how the normal response in terms of immunity and inflammation can vary between people and in particular in specific disease context because if we can understand that variation then we can perhaps try and use the treatments that we have available now more effectively so that we maximize benefit for the patient and minimize the risk of adverse effects and also get new insights into why disease develops because through genetic studies we're finding completely unexpected processes that are underlining disease that we weren't aware of before we had these new genetic tools.

Q: So why did you write your book?

JK: Well these are very fast moving times in genetics and I wrote the book really for undergraduate and graduate students to provide some historical context in terms of current human genetic research to identify some of the landmark discoveries that have got us where we are now and also to provide a broader view if you like of the many different types of genetic variations that we now realize exist and also how this is impacting in many different areas of research ranging from clinical medicine through to evolutionary biology. And hopefully through this book I can bring some of the enthusiasm that we have for genetics at the moment and inspire others to continue in this area.

Q: Why does your line of research matter? Why should we put money into it?

JK: Well I think that a lot of money has gone into genetic research over the last 10 to 20 years and that is starting to bear fruit. Our understanding of the nature of genes and how that varies between people is becoming much clearer and it's providing new insights into why people develop disease and also allowing us to target treatments much more effectively. I think that over the next 5 to 10 years we will be seeing rapid advances in how we use genetic information to try and personalize patient care for the individual so that they can get the maximum benefit from treatment that's available and also perhaps allow for better screening and identification of patients at risk of developing disease.

Q: So finally I guess that's how you feel your research fits into Translational medicine within the department?

JK: There is a need for us to try and translate the advances that have been made in genetics into differences in patient care. The work that we do I think complements a lot of other groups within the department who are taking mainly population genetic approaches to try and identify genetic variants that are important in particular diseases. Our work, if you like, takes a more functional approach to identify at a mechanistic level how particular genetic variants might be important in modulating gene expression and in turn the risk of disease. So this helps us narrow down on particular genetic variants and identify those variants that are most important and which could be of use to doctors in the future in terms of predicting risk and also tailoring treatments most effectively to the individual patient.

Julian Knight

Human Genetic Variation in Inflammation and Immunity

Professor Julian Knight studies how genetic variation between individuals affect the way immune and inflammatory genes are expressed. This helps understand genetic susceptibility to common conditions such as infectious, inflammatory or autoimmune diseases. He has published a book titled 'Human Genetic Diversity, functional consequences for health and disease'.

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Anna Gloyn: Genetics and Diabetes

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Predictions suggest that by 2030, 366 million people worldwide will be affected by diabetes, a disease which already uses 10% of the NHS budget. Continued breakthroughs in the area of genetics related to different types of diabetes enable better diagnosis and treatment for patients and identify novel pathways that can be targeted for therapeutic interventions.

Erika Mancini: Chromatin Remodelling

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Chromatin plays an important role in the regulation of gene expression. The movement of nucleosomes, packing and unpacking DNA, is governed by chromatin remodelling ATPases. Malfunctions in the regulation of chromatin structure often leads to complex multi-system diseases and cancer, notably leukemia.

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Diabetes and obesity are both major challenges for global healthcare, with the social, health and economic costs over the next fifty years being in the ‘trillions’ of dollars. Genetics is one of the more important tools for developing a systematic understanding of the disease and how best to treat it in different patients.

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Dyslexia is an impairment in learning to read that affects up to 10% of children; it can have profound effects on an individual life. Dyslexia has an important genetic component; candidate genes control important stages during foetal brain development. Understanding the biology of dyslexia could help us design more effective diagnostic criteria and treatment plans.

Claire Palles: Gastrointestinal cancers

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The gastrointestinal track is responsible for more cancers than any other system. A condition called Barrett's oesophagus, characterised by a change in the cells lining the oesophagus, can lead to oesophageal adenocarcinoma. Only few people with Barrett's oesophagus will go on to develop cancer, and genome sequencing studies aim to identify genetic risk factors and therefore better target high-risk patients.

Antonio Velayos-Baeza: Rare neurological disorders

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ChAc is a rare progressive neurological disorder caused by mutations in a very complex gene. A better understanding of the biology underlying this disease helps develop better diagnostic tools, and opens up the possibility of discovering targets for possible future treatments.

Zamin Iqbal: Computation and genetics

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Resistance to drugs in bacteria can be aquired by swapping genes between individual bacteria. Computer programs developed by Dr Iqbal enable doctors to predict which antibiotics will be met with drug resistance, enabling the selection of the right drug. His work also enables the tracking of an infection from patient to patient, as well as the tracking of the spread of an infection within a hospital.

Gerton Lunter: The evolution of the genome

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Computational and stastistical methods help us understand evolution as well as genetic disease. Looking at our genomes opens up clinical possibilities, for example in cancer, allowing more genes to be looked at - more quickly and more cheaply, wich can impact prognosis and treatment selection.

Catherine Green: DNA replication and Cancer

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The process of DNA replication is complex, and mistakes can lead to genome instability. Surveillance systems are not always successful which results in mutations that have the potential to inactivate genes or change their activity. This can lead to cancer, and many chemotherapeutic drugs are designed to disrupt DNA replication. A better understanding of these mechanisms can help us develop new drugs with reduced side effects.

Christopher Yau: Big Data

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Over the past decade, data-driven science has produced enormous sets of data. The convergence of statistics and computer science, in the field known as machine learning, provide the means to understand these large datasets. Ultimately, machine learning algorithms will be develop into clinical decision making support systems.

Translational Medicine

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Ultimately, medical research must translate into improved treatments for patients. At the Nuffield Department of Medicine, our researchers collaborate to develop better health care, improved quality of life, and enhanced preventative measures for all patients. Our findings in the laboratory are translated into changes in clinical practice, from bench to bedside.