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. Establishment and Evaluation of Selenon-RM Disease Models

    A comprehensive understanding of the cellular and molecular underpinnings of SELENON-RM is essential for developing effective therapeutic interventions. By modeling disease processes using cells, animals, or computational approaches, we can reveal the underlying disease mechanisms and precisely target new treatments to the molecules and pathways requiring intervention. These models also serve as valuable tools for evaluating drug efficacy and safety.

  • 2. Repurposing Existing Drugs for SELENON-RM Treatment

    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, bringing effective treatments to patients more quickly and efficiently.

  • 3. Discovering Innovative Chemical or Biological Therapies for SELENON-RM

    While SELENON-RM might 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. Targeted therapies that address these specific genetic mutations, or correct the biological dysfunctions arising from the absence or impaired function of Selenoprotein N, may be necessary to effectively treat SELENON-RM.

  • 4. Advancing Clinical Readiness

    Demonstrating a drug’s effectiveness in clinical trials is required for regulatory approval and marketing of the drug. To run a successful clinical trial, researchers need to identify desirable, measurable and achievable patient outcomes. Such outcomes might include how a patient feels based on a predefined scaling system, how a patient functions in a medical evaluation, or the level of a disease-associated biological or molecular marker (a biomarker). Predetermination of relevant clinical outcome measures allow medical professionals to objectively assess whether a drug provides value to patients. While every drug tested in a particular disease will require additional considerations to determine dose, duration of treatment and many other factors, the establishment of appropriate clinical outcome measures is a valuable step in preparing for testing any potential therapeutic. 

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 million to support SELENON-RM research. As our fundraising initiatives continue, we anticipate significantly expanding this investment.

Giving Strength provides financial support for innovative research programs led by the following world leaders in SELENON-RM research:

  • Alan Beggs, Ph.D., Boston Children’s Hospital and Harvard Medical School, Boston

    Dr. Beggs is at the forefront of research into the genetics of rare myopathies and has extensive experience in the development of innovative disease models. His laboratory has created crucial mouse and zebrafish models of SELENON-RM and is utilizing these tools to unravel SELENON-RM disease mechanisms and drive drug discovery. A key member of Dr. Beggs’s team, Behzad Moghadaszadeh, Ph.D., was the first to identify SELENON mutations as the underlying cause of SELENON-RM. Dr. Moghadaszadeh has made significant technical advances in the development of a gene therapy to restore functional Selenoprotein N in affected patients. You will find additional information on the Beggs Laboratory, including their registry for SELENON-RM patients and families, by clicking below.

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  • Ana Ferreiro, MD, Ph.D., the University of Paris and the Pitié-Salpêtrière Hospital, Paris

    Dr. Ferreiro, a practicing physician and researcher, is an internationally recognized expert in early-onset myopathies whose previous work contributed to the recognition of SELENON mutations as a causal factor in SELENON-RM. Dr. Ferreiro’s investigations have characterized SELENON-RM at both the molecular and clinical levels and have played a crucial role in advancing clinical readiness. Current programs focus on identifying biomarkers and conducting high-throughput screening in patient-derived cells to discover repurposed drugs that target the energetic deficits and cellular stress linked to SELENON-RM. To read more about Dr. Ferreiro’s work please visit her website by clicking below.

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

    Dr. Zito is a leading expert in endoplasmic reticulum (ER) stress pathways, which are dysregulated in diverse diseases, including SELENON-RM. Her laboratory is investigating the inhibition of an ER stress-related protein called ERO1A as a therapeutic strategy for SELENON-RM. Dr. Zito's pioneering work has utilized cellular models, mouse models, and patient biopsies to elucidate the role of ERO1A in the bioenergetic deficits, cellular stress responses and muscle cell dysfunction associated with SELENON mutations. Her research points to ERO1A as a possible biomarker for SELENON-RM and potential target for both novel therapeutics and drug repurposing efforts. To read more about Dr. Zito’s work please visit her website by clicking below.

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