Bettering the lives of individuals with DNM1L genetic variations

Welcome to the DNM1L Foundation, where we are dedicated to improving the lives of individuals and families affected by DNM1L genetic variations. Through research, education, and support, we aim to make a positive and impactful difference.

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VARIANTS

DNM1L Symptom Spectrum

DNM1L variants can cause a range of symptoms, including developmental delays, epilepsy and dystonia

We aim to make a impactful difference.

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Improving Lives Through Research and Education

The DNM1L Foundation is dedicated to connecting families, researchers, and medical professionals to improve the lives of those affected by DNM1L genetic disorders.

  • Researching DNM1L genetic disorders to find effective treatments
  • Connecting families, researchers, and medical professionals for support
  • Providing benevolent assistance to patients and their families

our founding story

Genetic Awareness

Understanding DNM1L Genetic Disorders and Their Impact

DNM1L genetic disorders are rare variations that can cause severe motor delays, optic atrophy, and even early infant mortality. Together we’re funding the research that will improve lives.

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Visualizing Our Impact

Improving Lives Through Research, Education, and Assistance

Advancing Research Through Viability Studies

We invite researchers to join us in advancing our Viability Studies, where we're developing cell models and testing innovative approaches to find effective treatments for DNM1L variations. Your expertise can help us uncover critical solutions and bring hope to families affected.

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Bringing Researchers and Healthcare Providers Together

Our partnership with Perlara, Inc. marks an important first step in our journey. But we know that one partnership alone isn't enough—we need many more to truly make a difference. Are you the next partner who can help us move forward together?

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Assistance to Patients and
Families

This is a community where we stand together, supporting families and patients as we push the boundaries of research. While we continue to search for answers, we no longer struggle alone—we rise together, as one united family.

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Discovering New Treatments through Drug Repurposing

Our Partnership with Perlara, Inc.

We have partnered with Perlara, Inc. to conduct a drug repurposing study aimed at finding effective treatments for DNM1L variations. Through this study, we are working to identify readily available compounds that can better alleviate the symptoms associated with these disorders.

Breaking Ground

In our inaugural study phase, we are developing fibroblast models and testing different cell assays.

Seeking Treatments

We are seeking to test three different assay types: Cell painting, Bulk RNAseq, and CellTiter Glo.

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