Transforming the Landscape

  • Funds provided by The Bachmann-Strauss Foundation have supported efforts to derive iPSCs by different methods. In 2012, a special “Impact Grant” Request For Proposal (RFP) focusing on dystonia research was released by the Foundation. Following intense review, the Foundation’s Scientific Advisory Board awarded two interrelated grants. The first grant was awarded to H.A. Jinnah, MD, PhD, Professor, neurology, human genetics and pediatrics, Emory University, and the second to Cristopher Bragg, PhD, Assistant Professor of Neurology, Massachusetts General Hospital.  Using newly developed technology to study neurons of different motor pathways, by taking a small skin sample from patients with dystonia, growing living fibroblasts from the skin, and then converting the fibroblasts into stem cells for making neurons. These stem cells are then used to generate a variety of different types of neurons for many different types of studies.  

  • The goal of Dr. Jinnah’s project – the Dystonia Coalition iPS Resource - is to develop a resource for the collection of skin samples for making fibroblast cultures for dystonia, to create stem cells from these fibroblasts to share with dystonia investigators, and to examine the defects in these cells after they are converted into dopamine neurons.  

  • Dr. Bragg’s project - Generating Isogenic Dystonia iPS Cell lines with Custom TALE Nucleases - has generated iPSCs for different genetic causes of dystonia by turning normal cells into cells with dystonia mutations with TALE nucleases. His lab is now able to create iPSCs for any genetic form of dystonia using TALE technology. Dr. Bragg is also collaborating with the Jinnah laboratory in developing and comparing the different dystonia iPSC models.