Stone Circle of Friends
Myotonic Muscular Dystrophy is the most common form of muscular dystrophy in adults.
Myotonic Muscular Dystrophy Research

Mani Mahadevan M.D., a researcher at the University of Virginia, is credited for discovering the specific location of the Myotonic Muscular Dystrophy (MMD) gene.

       Dr. Mahadevan has 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 this disease.

      Last 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.

     Our 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.

Unfortunately, Dr. 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.

At this 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.

Your contributions will allow Dr. Mahadevan to pursue the following  promising areas of research:

1. Silencing RNA

The 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.

Dr. Mahadevan has been working with this same type of cure specifically for Myotonic Muscular Dystrophy.

2. Therapeutic Proteins

Because 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.  

3. Pharmacological Alternatives

Pharmacologic approaches (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 potential. 

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.