Myotonic Muscular Dystrophy
|Myotonic Muscular Dystrophy is
the most common form of muscular dystrophy in adults.
M.D., a researcher at the
University of Virginia, is credited for discovering the specific
location of the Myotonic Muscular Dystrophy (MMD) gene.
continued to work on finding a cure or a therapy for MMD since the
early 1990s. “Mani,” as we now fondly call him, is recognized
worldwide in this field and has made it his mission to find a cure for
year, he implanted
healthy mice with the defective gene, then turned that gene “on” and
“off” with a trigger mechanism. He found that when he turned the
defective gene off, the mice became healthy and the muscle repaired
itself. This reversal surprised the medical community and gives
us hope of a healthy future for our boys.
aim is to provide our two
sons and others with MMD with a renewed opportunity to thrive in
healthy bodies, with clear minds and strong hearts.
Mahadevan’s lab is
insufficiently funded as is most of the research in this disease area.
In response to continuing cuts in National Institute of Health funds,
our family and friends are seeking to raise $200,000 this year to
supplement the annual cost of Dr. Mahadevan’s research, to both search
for a cure and to explore promising pharmacological therapies that
could silence this disease. The Muscular Dystrophy Association does
provide some funding, but it is limited because funds must be dispersed
among 41 different diseases.
time, the Stone Circle of
Friends has a goal of providing essential funding to Dr. Mahadevan’s
research at the University of Virginia. A special fund has been
established so that 100% of all donations are tax-deductible and go
directly to his lab for research purposes only.
will allow Dr.
Mahadevan to pursue the following promising areas of research:
2006 Nobel Prize in Medicine was awarded to
researchers Andrew Z. Fire at Stanford University and Craig C. Mello at
the University of Massachusetts Medical School. Fire and Mello created
a method to neutralize the excess RNA repeats by forming a compound
that enters a cell, targets and binds to the extra RNA to effectively
neutralize the specific section that causes a specific disease.
This is an extremely promising area of medical research that could
effectively “cure” this disease. This technology, if successful,
could provide an entirely new class of pharmaceuticals to treat many
diseases and conditions, including ALS, Myotonic Muscular Dystrophy,
Huntington’s disease, viral infections and numerous others caused by
repeating RNA. It has been compared to the discovery of
antibiotics and consequently, those responsible for the discovery have
been awarded the Nobel Prize in a record time since publishing their
findings in 1998.
Mahadevan has been working with this same
type of cure specifically for Myotonic Muscular Dystrophy.
MMD patients don’t adequately produce
proteins because of clogged cell nuclei, researchers are working on
identifying and replicating the missing proteins. Specifically,
“muscle-blind protein” has been found to be effective in treating
Myotonic Muscular Dystrophy in animals, but human clinical trials have
yet to be performed.
(i.e. medicines) may be
the most practical and immediate therapies for MMD. Research by
Dr. Mahadevan and others is opening up several potential
possibilities. Some of these compounds are quite expensive and
require a substantial amount of research before they can be tried in
patients. Dr. Mahadevan needs funding to acquire these compounds
and to perform the experiments to test and confirm their therapeutic
From Left to Right:
Dr. Varadamurthy Srinivasan, Ph.D., Dr. Ramesh Yadava, Ph.D.,
Dr. Mani S. Mahadevan, M.D., Ms. Carla Frenzel-McCardell, M.Sc.,
Ms. Jane (Qing) Yu, M.Sc.