About MFN2 Foundation -Our Story
​
Our journey began as parents to our daughter Michal, a vibrant and joyful child who, at the age of three, began showing signs of weakness in her right leg.
After a series of tests over a year, we received a life-altering diagnosis: advanced polyneuropathy caused by a mutation in the MFN2 gene, also known as Charcot-Marie-Tooth Disease Type 2 (CMT2A).
This news was daunting, but what we found even more troubling was the lack of therapeutic options or research focused on the MFN2 protein. Our search for answers led us to the realization that this gene is linked to several incurable conditions, including Alzheimer's and diabetes. We felt compelled to act, not just for Michal, but for all those affected by MFN2-related disorders. This is why we founded the MFN2 Foundation—to drive research, advocate for treatment, and inspire a new focus on a protein that holds the key to changing the future for countless individuals.
Current Research Directions
Genetic Approaches
The MFN2 Foundation is deeply committed to exploring treatments from a genetic perspective for MFN2-related diseases, with an initial focus on Charcot-Marie-Tooth Disease Type 2, but plans to expand to additional diseases in the future.
We explore various promising technologies, including Antisense Oligonucleotides (ASO), CRISPR gene editing, and RNA interference methods like siRNA and shRNA.
Our research agenda is dynamic, adapting continuously to include emerging and innovative approaches to these genetic disorders. By collaborating with leading researchers and institutions, we aim to translate these advanced scientific discoveries into tangible treatments. Our commitment is unwavering in our quest to find effective solutions that can significantly improve the lives of those affected by these conditions
Drug Screening
Drug screening for potential treatments for Charcot-Marie-Tooth disease type 2 (CMT2) involves a comprehensive search for compounds that can alleviate or reverse the disease's effects. This process typically uses high-throughput screening technologies to evaluate thousands of substances for their therapeutic potential against the molecular targets identified in CMT2. Successful candidates from these screenings are then rigorously tested in cellular and animal models to assess their effectiveness and safety. The identification of promising compounds through drug screening is a critical step forward, offering the hope of developing effective treatments tailored to the specific pathways affected in CMT2. This approach not only speeds up the discovery process but also enhances the precision of treatments tailored to individual genetic profiles.
Testbeds
The MFN2 Foundation is actively working to create relevant testbeds for evaluating new materials and potential treatments for Charcot-Marie-Tooth disease type 2 (CMT2). These testbeds include innovative platforms like induced pluripotent stem cells (iPSCs) and animal models carrying the specific mutations associated with CMT2. By developing these specialized models, the foundation aims to simulate the disease's complexities more accurately, enabling precise testing of therapeutic interventions. These testbeds are crucial for observing the effects of new treatments in a controlled environment, providing vital data before progressing to human trials. This strategy enhances the potential for discovering effective treatments, accelerating the path from laboratory research to patient care