Medical Genetics at MGH


Left to Right: Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Sarah Zucker, Horacio Kaufmann and Mike Zucker

 

Long-term collaborator Susan Slaugenhaupt invited Dr. Horacio Kaufmann to present at the Annual Course Genetics in Medicine at MGH’s Center for Human Genetics, Boston.

The course featured a session dedicated to familial dysautonomia, linking the phenotype with the genotype. Students at MGH heard how advanced techniques to study the nervous system in familial dysautonomia have improved our understanding of the affected pathways. They were also given the opportunity to listen to Ms. Sarah Zucker, who gave her account of life with the disorder. Dr. Slaugenhaupt discussed the continuing research into discovering way to overcome the genetic defect at a molecular level.

Dr. Susan Slaugenhaupt's seminal work discovered the genetic mutation that lead to carrier screening and pre-natal diagnosis in familail dysautonomia. She is currently funded by the National Institutes of Health at the Principal Investigator of a drug development grant award aimed at finding the best strategy to correct the protein deficiency in FD.