DNM1L variations are extremely rare, with only 58 documented cases worldwide. These variations can cause a range of conditions, from optic atrophy to severe motor delays, and in extreme cases, early infant mortality.
The majority of cases show severe neurological symptoms.
The DNM1L gene regulates mitochondrial fission. Variations in this gene can lead to fragmented mitochondria which can result in disruption of biochemical processes inside of cells. These disruptions can lead to a number of disorders including: dystonia, epilepsy, sensory neuropathy, severe muscle atrophy, optic atrophy and encephalopathy.
We are actively seeking dedicated professionals to join our efforts in advancing research on DNM1L genetic disorders:
Researchers
To delve into the specific mutations of the DNM1L gene and their impact on patients
Doctors
To help manage and treat symptoms related to motor function and muscle control
Providers
To oversee the overall health and development of affected children, coordinating care with other specialists
Your expertise is crucial in helping us improve the lives of those impacted by this rare condition.
We have partnered with Perlara PBC 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 rare genetic disorders.
Phase 1: Information Gathering
Understand the landscape of research, what is being done and most promising avenues for further research.
Phase 2: Cell Assay Viability
We are currently working on a cell assay viability to understand which assays will produce the best results for a future drug repurposing study.
Phase 3: Compound Testing
Once we have determined the best Cell Assay, we will test over 6,000 compounds to see which ones may have a rescue affect on developed fibroblasts.
Discover the story of Oliver and Eirinn, two individuals with a rare genetic variation linked to dopamine-responsive dystonia, and learn how it has shaped their lives.
Follow Oliver as he navigates the challenges and triumphs of living with their unique genetic variation.
Learn how the DNM1L Foundation provides community and support to families affected by genetic disorders.
Join us in finding solutions for DNM1L genetic disorders and improving lives.