We have been fortunate to recruit a new doctoral student, Huiya Yang, to join us in studying HSAN1 here at UMass. She is an outstanding molecular biologist who will work with me to generate two new models of HSAN1 in mice. The new mouse models will be knock-in instead of transgenic mice. That is to say, we will replace one of the two mouse SPTLC1 normal genes with the gene bearing a mutation. Then, using those models, will work on strategies to silence the offending genes. Huiya brings lengthy preliminary experience to the project, having worked extensively on suppressing other types of disease genes in mouse models of other neurological disorders.
Two developments in the field are noteworthy over the last year. First, it is now well established that the same gene defects that trigger HSAN1 can also cause a form of macular degeneration, characterized by unusual vascular changes in the retina. For this reason, we are setting up a collaboration to evaluate the retina of our existing, transgenic HSAN1 mice. It is possible that this will provide a sensitive, early readout of pathology in the mice. In turn, such a readout may facilitate testing of therapies.
The second development