The DMRF is committed to attracting bright, young investigators to dystonia research.
Over the years, DMRF has created funding awards to support investigators at different stages in their scientific training. Postdoctoral fellowship awards recognize and support outstanding young scientists who have earned a doctoral degree and have embarked on a period of mentored research.
In 2018, DMRF is supporting postdoctoral fellows who are working to fundamentally improve our understanding of brain dysfunction and molecular mechanisms underlying dystonia.
Lilian Cruz, PhD, Massachusetts General Hospital
“CRISPR/Cas9 System Targeting Specific DYT1 Allele Mutation in Patient Induced Pluripotent Stem Cells (iPSCs): A Strategy for Phenotype Reversion in iPSCs-Derived Neurons”
Mentors: Xandra Breakefield, PhD & Cris Bragg, PhD
CRISPR/Cas9 is a unique technology that has attracted a great deal of attention in recent months. It enables researchers to edit DNA. Dr. Cruz is applying this technology in an attempt to repair neurons that are abnormal due to a dystonia-causing mutation in the DYT1 gene. Her work will also study how the mutated torsinA protein encoded by the gene interferes with the functions of neurons; this may lead to uncovering new strategies to treat the disorder.
Maria Daniela Cirnaru, PhD, Mount Sinai Beth Israel
“Role of the X-linked Dystonia Parkinsonism (XDP) Causative Gene TAF1 in the Striatal Development and Maintenance”
Mentor: Michelle Ehrlich, MD
X-linked dystonia parkinsonism (XDP) is an inherited and degenerative form of dystonia that affects men from Panay Island in the Philippines. Unlike other dystonias, XDP is characterized by extensive neuron loss in a brain region involved in movement control and reward. Dr. Cirnaru hypothesizes that two genes, TAF1 and N-TAF1, control the expression of important factors that influence the health of these neurons. This project may enhance understanding of the role of TAF1 in the pathogenesis of XDP and accelerate the development of novel therapeutic strategies for XDP and other dystonias.
Accelerating Research & Inspiring Hope
The Dystonia Medical Research Foundation (DMRF) has served the dystonia community since 1976. Join us in our global effort to find a cure.