FD GENETIC THERAPY FUND

For the first time, the science to treat the root cause of Familial Dysautonomia is within reach.

FD is caused by a mutation in the ELP1 gene that starves sensory and autonomic neurons of a protein they need to survive. Three genetic therapy programs are underway right now that each target that root cause.
 

Join us as we kick off the FD Gene Therapy Fund. Our goal is to raise $2 Million by 2028 to help us deliver longer, better lives for those afflicted.

 

ASO (antisense oligonucleotide)  --------------------------------

Horacio Kaufmann, M.D, Director, Dysautonomia Center
Adrian Krainer, PhD, St. Giles Foundation Professor, Cancer Center Program Co-Leader, Cold Spring Harbor Labs.

n-Lorem Foundation
 

FD results from a point mutation in a RNA splicing site which interferes with normal production of ELP1 protein. Antisense oligonucleotides are strands of nucleic acids that are designed to bind to specific regions of the genes to thereby rectify the disrupted splicing of a gene. Dr. Krainer and collaborators developed an ASO that increases the production of ELP1 protein in human cells and in FD mouse models. Working with the n-Lorem Foundation, it is now being tested in a small clinical trial.

 

Small Molecule  -------------------------------------------

Susan Slaugenhaupt, PhD, Scientific Director of the Mass General Research Institute; Professor, Department of Neurology at Mass General and Harvard Medical School; Investigator; Center for Genomic Medicine and Elisabetta Morini, PhD, Assistant Professor of Neurology, Mass General and Harvard Medical School.
 

The small molecule called kinetin corrects the splicing defect and increases the production of full-length, functional ELP1 protein.  Increasing ELP1 protein has been shown to rescue the disease in animal models. 

 

Gene Replacement Therapy  -------------------------------------------

Frances Lefcort, PhD, Professor, Cell Biology and Neuroscience, Montana State University (retired).

Anil Chekuri, PhD, Investigator, Massachusetts Eye and Ear; Instructor in Ophthalmology Harvard Medical School.
 

Gene replacement therapy is an effective and FDA-approved strategy for delivering a healthy copy of a gene that, when mutated, causes disease. Our researchers have developed an AAV2 vector that drives the expression of the wild type human ELP1 gene in human cell lines and in FD mouse models. Gene therapy can be delivered systemically or to a particular target, such as the retina. The goal now is to conduct the necessary testing required to establish safety and effectiveness in higher mammals.

 

Your Gift Impacts the Next Steps of this Research

 

This is the moment.

For families living with Familial Dysautonomia, every day means navigating a body whose nervous system is slowly losing the battle — because of a single genetic mutation. Until now, treatment has meant managing symptoms. That changes today. Three research teams at Harvard, Mass General, Montana State, and Cold Spring Harbor are attacking FD at its root cause — the ELP1 gene mutation that starves neurons of the protein they need to survive. One therapy is already in clinical trial. Two more are closing in on human testing. 

 

What's missing is the funding to finish the job.

Your gift to the FD Genetic Therapy Fund goes directly to these programs — accelerating the path from lab breakthroughs to treatments that restore vision, protect neurons, and give people with FD a fighting chance at a fuller life.  This is not theoretical. This is not someday.