Genetic Research @ UMMS

Update on the Genetic Research at the University of Massachusetts

By Robert H. Brown, Jr., D.Phil., M.D.

Activity Report – Day Lab – U Mass Medical School

The Day Lab at UMMS has had another strong year of HSAN1 research. First, we have enjoyed collaborating with Florian Eichler at the Mass General Hospital to see the serine trial move toward completion. Second, we have continued to work on the use of small DNA molecules (oligonucleotides) to silence the HSAN1 gene. This work represents the efforts of a graduate student, Ms. Havisha Karnam, with an outstanding faculty member, Dr. Anastasia Khvorova. Dr. Khvorova has patented several new types of DNA molecules to silence genes and has made three of these available for our work on HSAN1.

Third, in a parallel project, we are working on an entirely different approach to silencing the mutant SPT (the enzyme serine palmitoyltransferase) gene using non-toxic, adeno-associated viruses to deliver a different type of silencing element into the spinal cord and dorsal root ganglia.

Finally, starting in August we will have a new post-doctoral fellow on our team who has prior experience studying the HSAN1 gene (the SPT gene). She will participate in these experiments as one component of her overall fellowship program. So, in summary, we are very excited that the next year will see substantial new progress in the efforts to silence the HSAN1 gene. As well, we look forward to working closely with the Deater Foundation to plan the next HSAN1 conference.

Anne Louise Oaklander, MD, PhD, is the Director of the Nerve Unit at Massachusetts General Hospital. She is an Associate Professor of Neurology at Harvard Medical School as well as an Associate in Neurology and Assistant in Pathology (Neuropathology) at Massachusetts General Hospital. Dr. Oaklander writes, “I am a neurologist/neuroscientist working in patient care, research, and education. I direct a laboratory that studies causes of neuropathic pain. My goal is to help bring these syndromes into the medical mainstream to improve diagnosis, and thus treatment.”

Dr. Oaklander has worked with patients with HSAN1. The Nerve Unit website, lists the Deater Foundation among its resources.