This is just the beginning!

Only with your support is treatment possible.

Giving Strength relies on our academic and industry partners to move the needle on the crucial research necessary to find a treatment for SELENON-RM. Below is a list of current and completed projects:

Active Projects

ERO1 alpha, a biomarker and a pharmacological target of SELENON-related myopathy

Ester Zito, Ph.D., The Mario Negri Institute for Pharmacological Research, Milan

Focus: Establishment and Evaluation of Selenon-RM Disease Models.

Summary: The Zito laboratory has demonstrated that the protein ERO1, whose expression increases under conditions of cellular stress, worsens the pathological features of SELENON-related myopathy (SELENON-RM) in muscle cells. This project will confirm the elevated expression of ERO1 in muscle tissue derived from SELENON-RM patients and will pursue the discovery of potent ERO1 inhibitors as potential therapeutic candidates for SELENON-RM.

Postdoctoral Research Support

Ester Zito, Ph.D., The Mario Negri Institute for Pharmacological Research, Milan

Focus: Mechanisms regulating SELENON protein expression and metabolism.

ERO1 alpha / SERCA Interaction Assay

David D. Thomas, Ph.D., University of Minnesota, Minneapolis

Focus: Determine interaction between ERO1 alpha and SERCA and screen inhibitors.

Cell Painting-Based High-Throughput Drug Screen

Pamela Barraza-Flores, Ph.D., Boston Children’s Hospital & Harvard Medical School

Focus: Develop high-throughput assay using cell painting.

RNASeq & Bioinformatics Analysis

Biogenity

Focus: Bioinformatic analysis of SELENON-RM RNASeq datasets.

Calcium Microdomain Assays

Jenny J. Yang, Ph.D., Georgia State University, Atlanta

Focus: Mapping calcium dysregulation within cellular microdomains.

Patient-Derived Cell Lines

Acres Bioscience

Focus: Engineering and immortalizing SELENON-RM fibroblasts.

Hypoxic Mouse Model

Ken O’Halloran, Ph.D. & John Mackrill, Ph.D., University College Cork, Ireland

Focus: Studying hypoxic stress responses in SELENON-KO mice.

Co-funded with Penny’s Promise.

Natural History Study

Nicole Voermans, M.D., Ph.D., Radboud University Medical Centre, Netherlands

Co-funded with: Prinses Beatrix Spierfonds & Stichting Voor Sara.

Completed Projects

Drug Repurposing Study

rareSHIFT / Unravel Bio

Goal: Predict repurposable drugs using RNASeq signatures.

General Support & Gene Therapy

Alan H. Beggs, Ph.D., Boston Children’s Hospital & Harvard Medical School

Focus: Foundational SELENON-RM biology and gene therapy research.

High-Throughput Drug Screening

Anna Ferreiro, Ph.D., The University of Paris & Pitié-Salpêtrière Hospital, Paris

Focus: ATP-based screening in patient myoblasts.

Co-funded with Cure CMD.

SERCA Activator Study

David D. Thomas, Ph.D., University of Minnesota, Minneapolis

Focus: Testing SERCA activators in SELENON-RM models.

ERO1 alpha Inhibition Strategy

Ester Zito, Ph.D., The Mario Negri Institute for Pharmacological Research, Milan

Focus: Investigating inhibition of ERO1 alpha as a therapeutic strategy.

Co-funded with Cure CMD.