Genetics

Professor Peter Donnelly tells us how genetics helps us to understand common diseases and develop new drugs. Understanding which variations in our DNA affect susceptibility to diseases can provide new insights into the disease process and lead to new treatments. Professor Peter Donnelly leads large collaborative human genetic studies, and his group develops and applies statistical methods to extract maximal information from the large datasets generated by genomic studies.

Every psychiatric disorder has a genetic contribution. Although anxiety and depression are very common diseases, current treatments are not very good. A better understanding of the contribution of genetic variants might help us better diagnose as well as develop new therapies.

Professor Gil McVean tells us how statistical genetics helps us understand and treat disease. Genomic technology and statistical analysis of the genome is a powerful tool in understanding disease. Prof Gil McVean is the Head of Bioinformatics and Statistical Genetics at the Wellcome Trust Centre for Human Genetics. Professor McVean's research covers several areas in the analysis of genetic variation. Combining the development of methods for analysing high throughput sequencing data, theoretical work, and empirical analysis, this research may lead to genetic diagnosis and targeted treatments for disease.

Dr Dianne Newbury talks about the contribution of genetics to specific language impairment. Specific Language Impairment (SLI) is a complex genetic disorder in the development of language. Dr Dianne Newbury is looking for the genes that predispose to SLI. Two regions, located on chromosomes 16 and 19, are linked with this disorder. Interactions between several normal genetic variants and environmental factors make certain individuals more vulnerable to language problems. A better understanding of these underlying biological pathways will lead to the development of more accurate identification systems and better therapies.

Dr Silvia Paracchini talks about the influence of genetics in dyslexia. Dyslexia is a reading impairment that effects up to 10% of children. Dr Silvia Paracchini aims to identify the genetic components of dyslexia to better understand its underlying biology. Working to uncover the biological mechanisms involved in human cognition, Dr Paracchini is looking for connections between dyslexia and other cognitive disorders such as Specific Language Impairment or Attention Deficit Hyperactivity Disorder. Dr Paracchini is looking for possible common genes for these clinically distinct disorders.

Dr Cecilia Lindgren explores the links between obesity and genetics. Obesity and its consequences are major and growing challenges for health care providers worldwide. While lifestyle is a contributor, over 30 genes associated with body mass index have also been identified. Dr Cecilia Lindgren uses genetic and genomic approaches to better understand the underlying mechanisms and pathways involved in the regulation of overall energy balance, to establish improved therapies and preventive measures.

Dr Julian Knight explains how genetic variants modulate gene expression and influence the susceptibility to commom diseases. Genetic variation plays an important role in individual susceptibility to common diseases. Dr Julian Knight's research focuses on how genetic variation between individuals affects the way immune and inflammatory genes are expressed. This helps understand genetic susceptibility to common conditions such as infectious, inflammatory or autoimmune diseases, leading to more targeted and effective treatments for patients. Dr Knight recently published a book titled 'Human Genetic Diversity, functional consequences for health and disease'.

Dr Erika Mancini explains the role of chromatin in the regulation of gene transcription. Chromatin, the physical packaging of DNA within the nucleus, plays an important role in the regulation of gene expression. All our cells contain the same set of genes, but only some of them are transcribed at any point in a particular tissue. The movement of nucleosomes, packing and unpacking DNA, is governed by chromatin remodelling ATPases. Malfunctions in chromatin structure regulation often leads to complex multi-system diseases and cancer, notably leukemia. Dr Erika Mancini is interested in the role of chromatin in the regulation of gene transcription.

Dr Krina Zondervan talks about endometriosis, an incapacitating women's health condition. Endometriosis is a gynaecological condition, which often causes severe pelvic pain and may lead to infertility. In women suffering from endometriosis, cells similar to those lining the uterus appear and flourish in areas outside the uterine cavity. Causes of endometriosis remain unknown and treatments are limited to either surgery or the use of hormonal drugs. Dr Krina Zondervan studies genetic, molecular and environmental factors influencing this complex disorder.