Population Genetics & Gene Therapy

Head – Professor Eric Alton
Administrator - Miss Tracy Higgins
Administrator - Mr Chris Leeds
Administrator - Miss Jennifer Welch

This section comprises the following groups:
Cystic Fibrosis - Professor Margaret Hodson
Gene Therapy & Lung Pathology - Professor Eric Alton
Interstitial Lung Disease Unit - Professor Athol Wells
Occupational and Environmental Medicine - Professor Paul Cullinan
Respiratory Epidemiology & Public Health - Professor Peter Burney

The main research areas for the Population Genetics and Gene Therapy section are:

Cystic Fibrosis  

The Cystic Fibrosis group (Professor Margaret Hodson) is undertaking an evaluation of methods of physiotherapy, health status questionnaire and telemedicine. This group is also developing new IV and inhaled antibiotic regimens; improving treatment for CF diabetes, osteoporosis and testosterone deficiency; investigating neurological and cardiac problems and causes and treatment for hypoxia.

Gene Therapy and Lung Pathology group 

The Gene Therapy and Lung Pathology group (Professor Eric Alton and Professor Peter Jeffery) is researching:

Gene therapy for cystic fibrosis (CF)

The three groups in the UK undertaking clinical trials of gene therapy for CF have come together to form the UK CF Gene Therapy Consortium. The Cystic Fibrosis Trust has awarded us £15M over 5 years with the aim of negotiating with big pharma for a phase 3 clinical trial at the end of this period. Over the last year the 50 clinicians and scientists involved have undertaken the preclinical studies to select our next clinical trial candidate. This has involved developing many new assays which form the basis of core facilities placed within the three participating groups.

Stem cell therapy for end-stage ischemic heart disease

The group has brought together many of the clinicians and scientists within the RBH/NHLI interested in this field, to take forward a clinical trial of bone marrow stem cells. This group is using a novel means of delivering the stem cells via a retrograde venous approach which may target large areas of the myocardium. The trial involves 46 patients, is double-blind and placebo-controlled, and has co-primary endpoints of myocardial perfusion measured by SPECT, and myocardial function measured by MRI.

Endobronchial biopsy in humans, with investigations of inflammation & remodelling in the adult, child and infant and the effects of current and novel treatment in COPD & Asthma, providing histological advice & support for Gene Therapy, and expertise in histology (biopsy), pathology & microanatomy, immunostaining, in situ hybridisation, high resolution scanning and electron microscopy, quantitative histological methods and image analyses and as a central laboratory for multicentre biopsy clinical trials.

Interstitial Lung Disease Unit

The Interstitial Lung Disease Unit's (Professor Athol Wells) main research areas can be subdivided into two intersecting areas: 1) clinical science with careful quantification of disease (with application, equally, to clinical practice and studies of pathogenesis); and 2) genetic studies with identification of associations with disease and severity of outcome in meticulously phenotyped patients. With respect to achievement, the ILDU has published papers with major international impact in both areas.

Occupational and Environmental Medicine

The Occupational and Environmental Medicine group (Professor Paul Cullinan) focuses on the occupational and environmental determinants of respiratory disease including gene environment interactions. The OEM group combines epidemiological, aetiological investigation with immunological and immuno-genetic research primarily in chronic airway disease, both in children and adults, pulmonary fibrosis and asbestos related disease. Current research is concerned with

• exposure - response relationships and immunogenetics of occupational asthma;
• determinants of childhood atopy and asthma, including causes of sibling effect in childhood atopy;
• immunological mechanisms of high dose tolerance in occupational asthma;
• inter-relationships between occupational respiratory disease and employment;
• effects of traffic reduction strategy on respiratory and cardiovascular health; and
• carcinogenic and fibrogenic effects of asbestos.

Respiratory Epidemiology and Public Health

The Respiratory Epidemiology and Public Health group (Professor Peter Burney) comprises a team of researchers with an international reputation in the field of epidemiology of allergic disease, asthma and chronic obstructive pulmonary disease, and incorporating expertise in medicine, public health, nutrition, genetic epidemiology and statistics. As well as working on the broad epidemiological patterns of disease, the group has a particular interest in the effects of early life (including in utero exposure), nutrition, sex hormones, and indoor, outdoor and occupational environment on disease incidence, severity and prognosis. They are also examining the influence of genes on susceptibility to environmental causes of disease. The group is involved in a number of European research collaborations, including the European Community Respiratory Health Survey, Europrevall, GA2LEN, BOLD and GABRIEL.