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Happy New Year!!!
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| 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:
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| 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.
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| 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
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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.
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| 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.
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| We are Planning our Big One Year Anniversary
Gala... Save the Date,
Saturday April 5, 2008. |
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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.
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| 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 |
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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
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
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| 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. |
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We are closer and closer every day to beating
this illness...Thanks to you.
Fondly,
Edibell and Todd Stone
Stone Circle Of Friend |
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