A rare axonal hereditary motor and sensory neuropathy which presents with a series of diseases that cause blindness and cognitive impairment. MTRFR/ C12orf65 may result with CMT6, Leigh Syndrome, Spastic Paraplegia-55, Behr Syndrome and COXPD.
University of Cambridge, Rita Horvath, MD, PhD, Director of Clinical Neurosciences is enrolling the patients, including Jaxson, in the MTRFR/C12or65 natural history study. Dr. Horvath is an expert in mitochondrial diseases and has developed an impressive model for collecting, curating, and analyzing patient data for publication. We have learned so much about MTRFR/C12orf65. What was believed to be a Charcot-Marie-Tooth with Leigh’s Syndrome is now classified to include symptoms related to Spastic Paraplegia and Ataxia, making the disease even more devasting. This is very important information as we continue to learn more about the disease and prepare for clinical trials.
University of Helsinki Institute of Biotechnology, Brendan Battersby, PhD continues to gain more insight on MTRFR/C12orf65 in specific models he developed and to test potential biological (drugs) as therapeutic approaches to treat disease. He works closely with Robert Burgess, PhD at Jackson’s Lab, a premiere mouse facility. The development of the mouse has been extremely difficult, but both scientists are optimistic that with new findings in the Battersby Lab that they will have success with a viable mouse by mid-next year. This is also essential to test the gene therapy virus designed at UNC, Chapel Hill, by Steven Gray, Phd, who now is at UT Southwestern
University of Miami, Mario Saporta, MD, Phd continues to fight for us by developing an iPSC model for MTRFR/c12orf65. Like the mouse, it’s been very difficult. He refuses to give up and is attempting one more approach to see if this model could be useful for testing therapeutics.
Early this year, we partnered with Rarebase, a public benefit company that leverages cutting-edge technology (Function, a tech-enabled drug discovery platform) and biology using repurposed FDA-approved drugs to deliver accelerated, off-label treatments for various types of rare diseases, including MTRFR/C12orf65. Rarebase has completed the discovery phase and is entering preclinical validation of the drug candidates identified for several subtypes of CMT, including MTRFR/C12orf65. They have found drug candidates to test in a model of MTRFR/C12orf65. Learn more about Rarebase here.
Scavenger Hunt Motorcycle Event for CMT6: A Success
The Rochester Chrome Divas hosted a Scavenger in the Finger Lakes of NY on September 9th. Mother nature provided us a sunny cool fall day for the ride.
Scavenger Hunt Victor, New York: September 9, 2017
Scavenger hunt September 9th, 2017
Summit Panelist Spotlight: Debi Houliares
When Debi’s son Zach was first diagnosed with CMT Type 6 in 2014, after 14 years of doctors trying to figure it out, she couldn’t believe there was a disease out there that no one has ever heard of.
A Night To Remember: First Casino Night Event For CMT6
On Thursday April 21, 2016, over 160 Zach supporters gathered for the 1st Casino Night to benefit CMT6!
HNF 1 Of 20 Rare Disease Groups Selected To Develop Natural History Studies By NORD
The Hereditary Neuropathy Foundation is proud to be included among leading rare disease groups, as we collectively aim to fill the research gaps to better understand how these rare diseases progress over time.
CMT 6 Football Event
On October 23, 2015 the Victor New York Blue Devils Football boosters and coaching staff dedicated their first playoff game from their undefeated season to team manager Zach Houliares.
Hereditary Optic Neuropathy
Optic neuropathy is one of the symptoms of a less common form of Charcot-Marie-Tooth disease known as CMT6.
Chrome Diva’s First Annual Motorcycle Scavenger Hunt
On Saturday July 25, 2015, Debi and Tom Houliares hosted the first annual Chrome Diva’s Motorcycle Scavenger Hunt in Webster, New York to raise awareness and funds for CMT Type 6.
Saturday July 25, 2015: The Rochester Chrome Divas Charity Benefit
To raise awareness and fund research for CMT6 in Webster, New York!
Throughout my life many different people have impacted my views on certain things, whether it be how I speak, how I dress, what I eat or even who I’m friends with. I now consider my viewpoint on life much more mature and sophisticated than it was 10 years ago or even 5 years ago. I think more logically than ever before and I am much wiser now because of my mistakes and because of my success. Recently in my life I met another person who greatly impacted my life.