Research
The Pearson lab research program builds upon the theme initiated over two decades ago to understand the disease-causing mutations of trinucleotide repeat expansions, that lead to diseases like Huntington’s disease and myotonic dystrophy. In the past 15 years, the lab has focused more upon disease-relevant animal models (transgenic mice), DNA repair/replication systems using human cells, human cell extracts or human recombinant proteins. We have also been increasing the relevance and significance of our understanding by assessing instability in true human embryonic stem cells, human fetuses (terminations) and human autopsies, with a focus upon both tissue-specificity and developmental staging of the mutation. In the last two years we have been developing a program of translational research; attempting to harness what we have learned to identify drugs that may be of benefit for affected families. This is crucial toward attaining the lab’s long-term goal of being able to arrest or reverse repeat expansions with the ultimate aim of clinical benefit for the affected individual.