Summary of Research
The Unit is at the forefront of research into human genetics, and its role is to advance the molecular and cellular understanding of genetic factors implicated in human disease and normal and abnormal development.
The Unit's programme centres on the themes of developmental genetics, chromosome biology and models for human genetic diseases.
The main areas of scientific research continued:
- Isolation of genes controlling chromosome segregation.
- Aniridia, Small eye, eye development and diseases in which the PAX genes may be implicated.
- Genetic mapping of autosomal recessive retinitis pigmentosum and other inherited retinal degenerations.
- Chromosome structure and function correlations.
- Gene therapy for cystic fibrosis.
- Genetics of inherited colorectal cancer.
- Enabling strategies.
- Gene assignment and isolation in inherited schizophrenia and other mental illness.
- Linear vectors and telomeres.
- Meiosis specific genes and male infertility.
- Centromere structure and function.
- Molecular organisation of chromosomes: chromosomal proteins.
- Mutation analysis.
The projects embrace a wide range of scientific disciplines and there is considerable inter-relationship between projects and disciplines. Full details of the projects can be found on the Research pages.
The broad scientific aims of the Unit are:
- To gain an understanding of the molecular basis of genetic disease and normal human development;
- To develop model systems to study human genetic disease and development;
- To define the structure of chromosomes and to elucidate the pathways controlling chromosome replication and segregation;
- To investigate the opportunities for gene therapy.
The main areas of scientific research are:
- The role of WT1 and interacting genes in development and cancer.
- Structure, evolution, expression and function of homeobox genes in development.
- Molecular genetic studies of developmental mutations.
- Digital atlas of development and gene expression database.