Moving from phenotype to the genome in humans
I was fortunate to be able to participate in the introduction of molecular techniques to human genetics. Gene cloning allowed the development of technology that allowed genes to be analysed in a person-specific way. I used these approaches to study thalassaemia, cystic fibrosis, dementia, and other diseases, and studied the ethical and policy implications as well.
Keywords
Cystic fibrosis / ataxia / dementia / Down syndrome / ethics