September  15 - 17,  2016

Center for Translational Research, Greenwood Genetic Center and Department of Neurology, Boston Children’s Hospital

My pathway in the Rett syndrome field

I had the fortune to be introduced to the Rett syndrome field by Hugo Moser, when I was beginning to work on my NIH career award in the early 90s. It led to a nice transition from my basic science search for genes involved in intellectual disability to a more clinically oriented focus that has been central in my career. It also opened the door to a field of very committed clinicians and researchers, both at my institution at the time (the Kennedy Krieger Institute) and many others throughout the world, as well as wonderful families doing everything humanly possible to improve the lives of their daughters. Over time, my initial bench work on the neuropathology and neurobiology of Rett syndrome evolved into neuroimaging and behavior, leading eventually into clinical service and drug trials, particularly after my move to Boston Children’s Hospital in 2012. An important event in this Rett pathway was my coordination role for the consortium RettSearch, which allowed me to have even more contact with my colleagues overseas. Fond memories of two pioneers and giants in the field, Bengt Hagberg and Masaya Segawa, will be always with me. There are too many to thank for their kindness and help in my attempts to improve the quality of life of girls and women with Rett syndrome.

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