Elliott gingerbread

Happy New Year!!!


500 SCF Jars were Stenciled and Distributed at TES
 Tuckahoe Elementary School is supporting MMD research by having the children collect coins in our Coins for a Cure Jars. There were many volunteers and a great celebration took place at the Stones with good food and drinks. This project was headed by Shayne Gordon and Meg Bryant. Jars will be collected in April and Giles Stone, "Papa" will be personally matching the money collected. It has been wonderful for the grown ups to witness their children's generosity.
SCF in the News...
 Part of our mission is to spread the word that here in Virginia, world class ground breaking research is being conducted by Dr. Mahadevan and his team at UVA. We love to talk about it one on one and to large groups. Publications with large circulations help us reach a wider audience....so we are happy to announce that The Children's Hospital, the fightermom website fightSMA.com, the YMCA donor magazine, UVA's Pulse , and the Harrisonburg Daily News Record have either published stories about our efforts or are in the process of publication now. Channel 6 and WRVA have also told the MMD story and they can be found on our website. Here is the address to the Harrisonburg story featuring Giles Stone's MMD Foundation in Harrisonburg:
Dr. Mahadevan Publishes New Research on MMD and Its Effects on the Heart in Nature Genetics

UVA Reports Surprising Findings Related to Heart Protein, NKX2-5,

In Type 1 Myotonic Muscular Dystrophy

CHARLOTTESVILLE, VA (Dec. 17, 2007) - New research from the University of Virginia Health System shows that, in cases of Type 1 myotonic muscular dystrophy (DM1),  a well known heart protein does several surprising things. DM1 is the most common form of muscular dystrophy in adults and affects approximately 40,000 adults and children in the U.S.

The protein, NKX2-5, is a biomarker for heart stem cells.  It is also very important for the normal development of the heart.  "Too little of it causes major cardiac problems including slow and irregular heartbeats," observes Dr. Mani Mahadevan, a human genetics researcher and Professor of Pathology at UVa who led the study.

The researchers were surprised to find that mice and individuals with DM1 actually overproduce NKX2-5, yet experience the same kind of heart problems associated with too little of it.

Excessive NKX2-5 may explain why as many as 60 to 70 percent of individuals with DM1 develop heart problems which cause their heartbeats to become slow and irregular, often necessitating the need for pacemakers. If these irregular heartbeats are not detected, sudden death can occur.

By using the mouse model of DM1 and mice genetically engineered to produce less NKX2-5, Dr. Mahadevan and his team showed that reducing the excessive levels of NKX2-5 seemed to protect the mice from the heart problems.

Researchers were also surprised to find NKX2-5 in the muscles of mice and individuals with DM1. "Usually, NKX2-5 is found only in the heart of adults," Dr. Mahadevan notes.  "It's like the muscle is having some kind of 'identity crisis' and starting to make proteins that shouldn't be there normally."

This discovery could prove beneficial, says Dr. Mahadevan, and lead to development of a simple diagnostic test to follow a patient's response to potential therapies.

Myotonic muscular dystrophy is recognized as the first example of a disease caused by a toxic RNA. RNAs are intermediary molecules that convey the genetic code in the DNA to the rest of the cell. RNAs are normally "cut and pasted together" by a process called RNA splicing. It is currently thought that the toxic RNA causes DM1 by disrupting normal RNA splicing."

Much of the research on DM1 is focused on factors that cause RNA splicing defects. Our work may provide explanations for pathogenic effects not accounted for by RNA mis-splicing," Mahadevan explained.

In this current study, Dr. Mahadevan and his colleagues built upon their groundbreaking research from 2006 which showed that toxic RNA causes DM1 and that getting rid of it actually reversed the disease process. Their latest findings demonstrate a new effect of RNA toxicity and how this may cause cardiac conduction abnormalities.

Entitled, "RNA Toxicity in Myotonic Muscular Dystrophy Induces NKX2-5 Expression," the study appears in the December 16, 2007 online edition of Nature Genetics.

Bikram Yogis donate over $7,000 to MMD Research
Edibell took on her studio's challenge to complete 30 classes in 30 days...90 minutes of challenging poses in 107 degrees. Her fellow  yogis pledged for each class that she completed. " It was great for me physically, mentally as well as emotionally. I made many new friends and it was wonderful to speak freely about MMD. I am now closer to others and that is invaluable. There is a special story about the challenge that I will never forget- A team of Yogis called the Power Rangers was also doing a challenge in competition with other teams.They won their challenge and donated the prize money to MMD research...I had never met them until half way through my challenge. The Bikram studio owned by Beth Florence and Meredith Kirchner also donated generously. WOW!
Sian Byron's scarves and Nancy Sizemore's cards help raise over $1,000 for  research and MMD awareness
Sian has been knitting scarves since April 2007. She donated labor and her many talents while her generous family from Wales has been faithfully sending her the wool. These colorful scarves were a huge hit and only 9 are left. Nancy also donated her talent by printing her floral charcoal drawings onto greeting cards and selling them over the Holiday season for MMD. These cards are great for spring time and Easter. Contact Edibell 804-467-9998 if you would like to purchase some. All money goes to the research.
Our Car Raffle was Won by Leonor Leon
We are new at raising funds....so at the time it seemed like a good idea to buy an inexpensive car and raffle it off....I thought it was a shoe in, the tickets were only $20.00-what could go wrong....I have to say that it was my idea (yes, Edibell's ). I wrote a personal check for an undisclosed amount hoping to raise $20-25,000. Well  I am glad it is behind us now. It was super difficult to sell the tickets... and I learned a valuable lesson. People in general are not very excited about a used Ford Taurus Station Wagon. Knowing that all of our events have been succesful helped me stay on Todd's good side. So our winner is..... Leonor Leon. Mrs. Leon chose to sell the car. Thank you to all the people that gave and a very special thank you to Luzsa and Lucho Avila who managed to sell 76 tickets. All money was donated to research.
Christmas Cheer from New Friends and Old...
  A few days before Christmas Karen Phillips and her family surprised me with a heartfelt donation. She came by our house, introduced herself and her children, and shared with me that at Thanksgiving she and her extended family had decided to forgo their Christmas gifts to one another. Instead they chose to make a donation to the SCF and she handed me 2 very generous checks... with a gift. I was truly speechless and moved by her generosity. So....Merry Christmas to the Phillips Family. That was a beautiful gesture.
Also, I want to say a special thank you to Claire Cardwell and Eddy Karabulut, the Pendleburys, the Walkers and the Stephens for their generous Christmas donations. And to Joey Oliver, Elliott's friend, who brought his coins to us and then took his jar back to refill. We also received some first time donations this month. It is very nice to know that people are thinking of us through the very busy holiday season.
We are Planning our Big One Year Anniversary Gala... Save the Date,   Saturday  April 5, 2008.

Lisa Martin is our event Chair and we have a very talented creative committee headed by Elizabeth Blackmon. Bio-Ritmo is on board and Tim Kaine will be attending. We will have great food with an open bar and there are a few other surprises in the works...All this will happen at The Willow Oaks Country Club. We  had a special donation for this party by an anonymous donor who's family has been devastated by MMD-so all of your money will go to research only. We are looking for hosts and sponsors to help make this a successful evening.

Another way to give...
Keith Pearce of Extreme Digital supplies and designs high end home entertainment systems and will make donations to the SCF when purchases are made. He can be reached at 804-339-5335.
Yes, in Richmond, Va.
Some of you may have recently read an article In the Richmond Times about a Richmond, Va. pharmaceutical company named Insmed that is testing a promising drug called Iplex for MMD. Todd and I had the great priviledge to meet with the 9 members of their team who are in charge of this great study. Iplex is entering the later part of the second phase of clinical trials. We were pleased with their warm welcome and their interest in "putting a face with the Illness". The Muscular Dystrophy Association just granted Insmed a two million dollar grant for this promising study. Iplex is only available in Italy for ALS patients. People worldwide are watching this Richmond company. That is amazing!
About Coping...
 Denial can be a very good thing...It works for me most of the time. If I really stop to think about what is happening to Elliott and Nicholas' body and mind and to my brothers who are also afflicted, I could not fight this battle. We must carry on this tremendous fight that just started last April. Your love and contributions are making changes in the landscape of our future. Our daily battles are somehow more tolerable knowing that in 8 months you have donated over  $210,000 to make a difference in our lives and in the lives of others afflicted with MMD. Thank you.
Thank You from Dr. Mahadevan

Dear Todd and Edibell,

It's been less than a year since we met, but I feel like we have gotten to be good friends over this short time.  I want to thank both of you for your support and inspiration and all that you have done and are doing to support the work in my lab.  As I have told you before, I think it clearly inspires the people in the lab as well.

I also want to thank all your friends, family and all who have raised money and awareness, held and participated in fundraising events.  Todd, I also want to thank your dad Giles for the support that he is providing.  I read the article on the web about the
foundation he has started.  This will definitely help our collaboration with SRI as we move forward with that next year.

The funds that you have raised have allowed us to do some experiments that we would not have done.  Also, it has enabled us to purchase new equipment for the lab like the mouse treadmill ($6,000) and grip strength meter ($2500) that we ordered this week.  These instruments will enable us to measure the endurance and muscle strength in our mice in a quantifiable way.  This is especially important as we try different treatment ideas.  We need a way to quantify if the therapies are having a beneficial effect on a functionally relevant outcome, namely muscle function and strength.  We are excited about the opportuntiy to learn how to use these instruments and then apply them to our research.  I would not have taken the risk of buying them prior to the generous help of the Stone Circle of Friends.

We are planning some exciting experiments for the coming year to develop and test a variety of potential therapeutic strategies.  I hope that by this time next year, we can be discussing the outcomes of some of these experiments.  We will be applying for more funding as well to support some of these new endeavours and will seek fundiing from MDA, NIH and other agencies.  We hope to be able to identify other targets for therapy that may be beneficial in DM and we are going forward with our development of gene therapies for DM.  I have also set up collaborations with SRI and other companies to identify new compounds that may be effective in getting rid of the toxic RNA that causes DM.  We hope to be able to test these in our mice and cell culture models.

I wish you both and the kids a very merry Christmas and holiday season.

Warmest wishes,


Mani S. Mahadevan, M.D., FRCP(Canada)                        Professor Department of Pathology
Medical Director, Molec. Diagnostics Lab, UVA Health System
Associate Director, Cytogenetics Lab, UVA-Health System
University of Virginia
MR5 Building, Rm. 3330
415 Lane Rd.
P.O. Box. 800904
Charlottesville, VA 22908-0904 USA

Telephone: 434-243-4816
Fax: 434-924-1545
Email: mahadevan@virginia.edu
2008 Event Calendar
We are in the process of setting up events for 2008. We are working on many  projects: a February Latin Party, a Thank You Dinner hosted by UVA for people who have hosted events, a summer Kanawha party, The Latin Ballet, Amaranth Arts, a fall tennis tournament, a 5K run/walk, a wine and cheese party at Fresh Market, a wine tasting at Emilos' restaurant, a children's festival, and a variety of other events to celebrate life while donating to the research. As we finalize dates we will list them on our website so keep checking in.

We are closer and closer every day to beating this illness...Thanks to you.


Edibell and Todd Stone
Stone Circle Of Friend
Stone Circle Of Friends | 8101 Lower Ralston Court | Richmond | VA | 23229