Page 7 - 2021 Summer CMTA Report

CMTA Awards Züchner $300,000

for Gene Discovery Work

he Charcot-Marie-Tooth inherited neuromuscular diseases,
Association May 12 awarded a prerequisite to finding treatments.
TDr. Stephan Züchner and his team CMT is one of the most common
at the University of Miami $300,000 inherited disorders in neurology,
for a project aimed at increasing affecting one in 2500 individuals, yet
understanding of the genes that less than 50 percent of CMT2 patients
cause CMT, a critical step in the drug receive a genetic diagnosis.
development process.
Dr. Züchner’s previous work has
The three-year project will support contributed to the discovery of more
data sharing, curation of existing than 25 novel, mostly axonal, Type 2
data, and the development of web- genes. He and his team have built
based access for CMT patients to extensive discovery resources,
participate in genomic studies. In including the largest collection of CMT
addition, the funding will support the exomes/genomes and GENESIS, a
implementation and validation of a data analysis platform that allows for
machine-learning algorithm for CMT real-time data sharing and genetic
genetic variations. matchmaking.
The first generation of genetic therapies Building out the CMTA’s bioinformatics
is now available for neuromuscular abilities, which are available to the The future focus will be on advanced
diseases like spinal muscular atrophy Inherited Neuropathy Consortium techniques such as machine learning,
(SMA) and hereditary amyloidosis (INC) and other CMT collaborators in non-coding space, complex structural
with neuropathy or in clinical trials for GENESIS, will result in a continued high variation and more. These cutting-
diseases like giant axonal neuropathy pace of gene/allele discovery. Züchner edge techniques will ultimately
(GAN), and a flurry of similar projects will and his team recently identified allow for better diagnosis of patients
begin soon. There is a new urgency to mutations in the SORD gene that with unknown variants and support
uncover the complete genetic basis of cause a recessive form of CMT2. important gene therapy projects.

CMTA Awards $100,000 to Explore Potential 1X Treatment

he Charcot-Marie-Tooth feet. As the nerves die, the muscles that allow transport of metabolic
TAssociation announced a around them follow suit. All of the substances across the many layers
$100,000 grant May 25 that will CMTA’s research efforts are consol- of myelin. Recent studies have
fund a study into whether a common idated under its Strategy to Accel- highlighted the important role of
food additive can be used to treat erate Research, or STAR—which metabolic exchange between the
CMT1X. brings together the world’s largest axons of nerves and the myelin
John Svaren, PhD, of the University network of biotech research partners, sheath made by Schwann cells, and
research scientists, clinicians and pa-
the lack of functional channels could
of Wisconsin (the head of the tients—and funds more CMT grants be the key factor that drives the
CMTA’s Scientific Advisory Board) than any other philanthropic organi- deterioration of axons in this type
and investigators at the Jackson zation to increase the likelihood of of CMT.
Laboratory will use a mouse model of finding a cure. Since 2008, the CMTA
CMT1X to perform the studies, which has invested more than $17 million Investigators will test whether the
will take about a year. If successful in STAR, with plans to invest another food additive can prevent metabolic
in demonstrating proof of concept, $10 million in the next few years. starvation and maintain healthy
these studies could lead to an nerves when channels are blocked
accelerated path to the clinic. CMT1X is a demyelinating CMT that by the mutations that cause CMT1X.
CMT is a degenerative neuromus- accounts for roughly 15 percent of The food additive has been proven
to be safe at even high doses in
all cases. It is caused by mutations in
cular disease that kills the long, or the gap junctions that form channels preclinical/clinical studies.
peripheral, nerves to the hands and

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SUMMER 2021 THE CMTA REPORT