Empowering Breakthroughs in SELENON-RM Research

Thanks to the generous financial support of our donors, Giving Strength is proud to fund groundbreaking research conducted by world-renowned scientists and clinicians focused on SELENON-RM. Current programs will lay the groundwork for discovering and developing new therapies for SELENON-RM and are strategically designed to achieve four critical goals:

$1.5 million+ raised since 2020 to support SELENON-RM research
1
Establishing and Evaluating New Disease Models

A comprehensive understanding of the cellular and molecular underpinnings of SELENON-RM is essential for developing effective therapies. Cell-based, animal-based, and computational models are the foundational tools that make this possible — enabling researchers to reveal disease mechanisms, confirm drug targets, conduct drug screens, and evaluate the efficacy of investigational therapies.

Funded Projects
Active
Developing a Hypoxic Mouse Model
Ken O'Halloran, Ph.D. & John Mackrill, Ph.D. · University College Cork
→ Active
Creating Immortalized Patient-Derived Cell Lines
Acres Bioscience · San Diego, CA
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2
Repurposing Existing Drugs

Different diseases may share common molecular and cellular pathways. By identifying and repurposing drugs already tested for other conditions, we can significantly reduce both the time and cost of drug development. Because these compounds have typically undergone extensive safety and pharmacologic evaluation, repurposing offers one of the fastest paths to a treatment for SELENON-RM patients.

Funded Projects
Active
Establishing a High-Throughput Cell Painting Platform for Drug Screens
Pamela Barraza-Flores, Ph.D. · Boston Children's Hospital & Harvard Medical School
→ Active
Personalized, AI-Driven Drug Repurposing
rareSHIFT / Unravel Bio · Medford, MA
→ Completed
High-Throughput Screening of Repurposable Drugs in Patient-Derived Cells
Ana Ferreiro, MD, Ph.D. · Institute of Myology, Paris
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3
Discovering Novel Therapies

While SELENON-RM may share characteristics with other diseases, it is also a distinct condition caused by mutations in the SELENON gene, which encodes a protein with unique functions. Some consequences of Selenoprotein N deficiency may remain unaddressed by repurposed drugs. Targeted research focused specifically on the pathophysiology of SELENON-RM is essential to identify interventions that modify disease biology at its root.

Funded Projects
Active
Elucidating SELENON-RM Disease Mechanisms
Pamela Barraza-Flores, Ph.D. · Boston Children's Hospital & Harvard Medical School
→ Active
Mapping Calcium Dysregulation within Cellular Microdomains
Jenny J. Yang, Ph.D. · Georgia State University & University of Alabama at Birmingham
→ Active
Bioinformatic Analysis of SELENON-RM Gene Expression Datasets
Biogenity · Aalborg, Denmark
→ Active
Investigating a Previously Unrecognized Pathway in SELENON-RM Pathology
Serena Germani, Ph.D. & Ester Zito, Ph.D. · The Mario Negri Institute, Milan
→ Active
Characterizing and Inhibiting ERO1A / SERCA Interactions
David D. Thomas, Ph.D. · University of Minnesota
→ Active
Confirming the Role of ERO1A as a Biomarker and Pharmacological Target
Ester Zito, Ph.D. · The Mario Negri Institute, Milan
→ On Hold
Testing the Efficacy of SERCA Activators in SELENON-RM Models
David D. Thomas, Ph.D. · University of Minnesota
→ Completed
Executing Foundational SELENON-RM Research Studies
Alan H. Beggs, Ph.D. · Boston Children's Hospital & Harvard Medical School
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4
Advancing Clinical Readiness

Demonstrating a drug's effectiveness in clinical trials is required for regulatory approval. Successful trials depend on outcome measures and endpoints that are both quantifiable and clinically meaningful — whether based on patient-reported outcomes, functional performance, or disease-associated biomarkers. Establishing these measures early is a critical step toward human testing and, ultimately, toward therapies that reach patients.

Funded Projects
Active
Supporting a Prospective Natural History Study
Nicol Voermans, M.D., Ph.D.; Corrie Erasmus, M.D., Ph.D.; Ilse de Laat, MS · Radboud UMC
→ Active
Development of a Digital Natural History Study
Citizen Health · San Francisco, CA
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See every project in one place, organized by status.

View Our Full Research Portfolio

By investing in these critical research areas, Giving Strength is accelerating the path to life-changing therapies for individuals affected by SELENON-RM. Since 2020, Giving Strength has raised over $1.5 million to support SELENON-RM research. As our fundraising initiatives continue, we anticipate significantly expanding this investment.