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Dr. Takako Jones is an Associate Professor of Pharmacology at the University of Nevada, Reno School of Medicine. She has a wide range of experience in the fields of developmental biology, cell biology, molecular genetics, and models of human disease. She has worked with a variety of model organisms over the course of her career and more recently has developed several novel animal models of FSHD and validated numerous human cell models to study the FSHD pathogenic mechanism.  


One of her most significant works is the 2012 discovery of low levels of DUX4 expression in muscles from “healthy” subjects, leading to the quantitative model for FSHD, stating that FSHD pathology is caused by increased frequency of DUX4 expression in FSHD-affected subjects as opposed to a binary “on” or “off” for pathogenic gene expression.  


Importantly, this work showed that healthy muscle can tolerate a certain level of DUX4 expression and ushered in the therapeutic strategy of reducing DUX4 expression to a “non-pathogenic” level as a viable treatment. 


In 2015, she successfully created the first phenotypic FSHD-like mouse model, the FLExDUX4 mouse, which is now the most widely used FSHD-like model in the world by both academic laboratories and pharmaceutical companies developing their therapeutic interventions targeting DUX4 mRNA and protein.  


In 2018, she helped develop the human xenograft FSHD mouse model that provides an innervated human FSHD muscle grown inside a living mouse applicable for therapeutic screening.  


In addition, she invented a rapid, inexpensive, and highly accurate epigenetic diagnostic for all forms of FSHD that can be performed on saliva, and has been devoted to providing this more accessible FSHD diagnostic test to the worldwide FSHD patient community.  


So far, this research test has helped more than 1,150 people in need worldwide and its reach continues to grow.  


Dr. Jones is an inventor on patent applications for CRISPR inhibition and epigenetic diagnostics for FSHD. Currently, she is leading all AAV preclinical studies for CRISPRi using her FLExDUX4 model and the human FSHD xenograft model.



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