Join us on September 9, 2017
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What is Charcot-Marie-Tooth Disease Type 6 (CMT6)?
Charcot-Marie-Tooth (CMT) disease is a family of inherited disorders of the peripheral nerves. There are over 60 identified genes, in which particular mutations (changes), can cause CMT. Most people with CMT develop muscle atrophy and weakness in the arms and legs, foot drop, varying degrees of walking and balance difficulties, ranging from tripping to requiring devices to stay mobile (leg braces, wheelchair or a scooter) difficulties using the upper limbs, and loss of sensation. There are different categories of CMT, depending on what symptoms the disease presents with, the pattern of abnormalities on nerve conduction studies, the manner in which the CMT is inherited and the specific genetic cause of the CMT. The most common categories are CMTI (“demyelinating”) and CMT2 (“axonal”). A less common form of CMT is known as CMT6. In CMT6 symptoms of the CMT can start in early childhood, teenage years or adulthood. CMT6, involves development of optic atrophy with loss of vision or blindness, muscle atrophy and weakness, loss of sensation, and balance and gait difficulties.
Debi takes on NYC on May 7th
Please considering sponsoring Debi as she will be participating in the 2017 TD Bank Five Boro Bike Tour in NYC. As a board member of the Hereditary Neuropathy Foundation she is excited to be a part of this day’s event as we all continue to raise awareness and money for research which has already begun. Click here to donate!
Objectives for 2016-2020
- Identify other patients and families with CMT6
- Build our new Natural History Study for CMT6
- Support patients and families with CMT6
- Launch research with new mouse model for CMT6
- Continued research with zebrafish model for CMT6
- Support translational research to advance novel drug therapies for CMT6
- Conduct pilot screens of FDA approved compounds
- Investigate gene therapy approach
Update from the Houliares Family: How we are using your generous donations!
Dear Family and Friends, The Houliares Family hopes that this letter finds everyone well. We want to share with you an update on all the progress that has been made over that past year as we continue to raise awareness and money for research for Zach’s disease, Charcot-Marie-Tooth (CMT6). Since Zach’s diagnosis in January 2014, our lives have been forever changed. Each and every day is a constant reminder to us on how important it is to continue our fight for treatments and a cure for this horrible disease, which Zach and others like him suffer from. We have been able to identify other families in the United States that have the same mutation as Zach, so our mission goes beyond the walls of our home as we enter into helping others who suffer like Zach. With Zach’s diagnosis in 2014, we have accomplished the following to date:
- Jackson Labs has developed a CMT6 mouse model with Zach’s mutation of C12orf65 to understand the disease and later this year we will launch studies to support therapy development.
- Continued research is being conducted at the University of Sheffield, UK using Zebrafish in order to better understand CMT6 and find targets to develop therapies.
- We plan to develop cell lines from patients with CMT6 to study the disease and test therapies.
- HNF has meetings this summer to finalize a novel gene therapy approach to tackle the genetic defects in the optic nerve with the world-renowned gene therapy center at University of North Carolina Chapel Hill.
- To date, we have hosted three events: Havana Nights, Scavenger Hunt Rochester Chrome Divas, and Casino Night.
Our family appreciates all your support thus far, but now the real work begins – the actual research! With your generous support we have accomplished so much in such a short amount of time. As parents, we believe in the power of love and pull from our strong faith knowing that we have the ability to make a better life for those that suffer from this progressive, crippling disease. Your continuous donation to Zach’s Team will help us in finding treatments and a cure for CMT6. Make your tax-deductible donation online at http://weblink.donorperfect.com/zachsteam donate or send a check made out to: HNF P.O. Box 1922, Midlothian, VA. 23113. Please reference Zach’s Team in the memo line. Warm Regards, The Houliares Family
HNF had the opportunity to connect with Kathleen Bogart, PhD, the Principal Investigator of the Adults with Rare Disorders Support Study in partnership with the National Organization for Rare Disorders (NORD). She is an Assistant Professor of Psychology at Oregon...
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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. How could this be? After researching on the internet, which didn’t...
On Thursday April 21, 2016, over 160 Zach supporters gathered for the 1st Casino Night to benefit CMT6! Guests dined on hors d'oeuvres and sipped beverages on the rooftop of the Strathallan Hotel in Rochester, New York. The room was bustling with casino tables for...
The National Organization For Rare Diseases (NORD) recently announced the twenty rare disease patient groups selected to develop natural history studies, supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA). The Hereditary...
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.