The research programmes are divided into broad themes:
Mechanisms underlying disease
Developmental eye disease, retinal degeneration, brain disorders, dysmorphologies, childhood kidney cancer, colorectal cancer melanoma, infertility, cystic fibrosis
Chromosome and gene expression
Nuclear organisation, chromosome dynamics.
DNA methylation, RNA splicing and editing, control of translation, control of protein degradation
Eye, Brain, Limb, Gut, Kidney, Germ cells, stem cells, melanocyte/neural crest
Genome-wide approaches; genetic screens, RNAi screens, complex genetic disease, computational approaches
MRC Human Genetics Unit
Medical Research Council
The Clinical Research Facility Edinburgh
Human Genetics Unit statement
Director Professor Nick Hastie CBE FRS
Professor Nick Hastie CBE FRS
At the forefront of research into human genetics, the MRC Human Genetics Unit advances the understanding of genetic factors implicated in human disease, and in normal and abnormal development.
More specifically, its scientific aims are:
To gain an understanding of the molecular basis of genetic disease and normal human development
To identify genetic risk factors in common disease in isolated populations
To develop animal model systems to study human genetic disease and mammalian development
To understand the role of nuclear and cytoplasmic organisation in regulating the flow of information from DNA to the organism
To investigate opportunities for novel therapeutic approaches including stem cell therapy.
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