Sir Peter Harper obituary

Researcher into the genetics of neurological disorders whose work has provided hope for a cure for muscular dystrophyPeter Harper, who has died aged 81, was a world expert on the genetics of inherited neurological disorders, particularlyHuntington ’s disease andmuscular dystrophy. He also advocated the idea of genetic counselling – helping people to understand the implications of inherited disorders that might affect them and their families.Finding a genetic link between the two wasting conditions has led to highly accurate diagnostic and predictive tests for at-risk individuals and their families. Peter played a leading role in that discovery, and in establishing that in both disorders genes have unstable DNA sequences that tend to expand over generations, accounting for the phenomenon of “anticipation”, by which both conditions worsen, and occur at an earlier age, in successive generations. While there is still no remedy, his work has contributed to an understanding of the underlying molecular mechanisms, providing hope that a cure will one day be available.Continue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Genetics Medicine Science Education Biology Huntington's disease Source Type: news