2018 MDF Research Fellows

In partnership with the Myotonic Dystrophy Foundation US, the Myotonic Dystrophy Foundation UK made the following Research Fellowship grants in 2018:

Ashish Rao
Baylor College of Medicine, Houston, Texas, US

Mr. Rao’s project “Tissue specific expression of expanded CUG repeat RNA to investigate the cardiac pathogenesis of myotonic dystrophy type 1” aims to establish a new animal model for DM1 cardiac disease for use in the field, improve the current understanding of molecular events contributing to the cardiac symptoms in DM1 patients, and evaluate the feasibility of a novel methodology for treatment of cardiac manifestations in DM1.

Florent Porquet
University of Liege, Belgium

Mr. Porquet’s project “CRISPRI-induced transcriptional silencing of DMPK as a therapeutic strategy against myotonic dystrophy type 1” aims at elaborating a new curative approach which has never been tested before in DM1. Their strategy consists in the use of molecular guide (named CRISPRi system) derived from the recent CRISPR/Cas9 system breakthrough. They will use this guide in order to prevent the production of the molecular defect causing the disease.

Curtis Nutter, PhD
University of Florida, Gainesville, Florida, US

The goals of Dr. Nutter’s project “Congenital myotonic dystrophy: pathomechanism and therapeutic development” are to investigate how a key RNA processing factor specific to early development may contribute to the symptoms of congenital myotonic dystrophy (CDM), and test potential treatments using drugs called antisense oligonucleotides (ASOs) to correct RNA processing defects that lead to symptoms of CDM.

Kiruphagaran Thangaraju, PhD
University of Florida, Gainesville, Florida, US

The goal of Dr. Thangaraju’s project “Molecular characterization of RNA and RAN protein effects in DM2” is to generate a mouse model of DM2 that will allow us to better understand the contribution of both the mutant RNAs and mutant RAN proteins. To accomplish this, he will isolate and use a large piece of human DNA that contains all of the normal regulatory sequences. This method will help ensure that the RNAs and RAN proteins are made in the correct way of the mouse body, including the brain, to mimic the human disease.