Eur J Hum Genet. 2009 Nov 25.
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Van Kien PK, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M.
CHU de Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France.
Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units at chromosome 4q35.2. FSHD is associated with a range of 1-10 D4Z4 units instead of 11-150 in normal controls.
Several factors complicate FSHD molecular diagnosis, especially the cis-segregation of D4Z4 contraction with a 4qA allele, whereas D4Z4 shortening is silent both on alleles 4qB and 10q. Discrimination of pathogenic 4q-D4Z4 alleles from highly homologous 10q-D4Z4 arrays requires the use of the conventional Southern blot, which is not suitable at the single-cell level.
Preimplantation genetic diagnosis (PGD) is a frequent request from FSHD families with several affected relatives. We aimed to develop a rapid and sensitive PCR-based multiplex approach on single cells to perform an indirect familial segregation study of pathogenic alleles.
Among several available polymorphic markers at 4q35.2, the four most proximal (D4S2390, D4S1652, D4S2930 and D4S1523, <1.23>
Instead, a particular haplotype segregated with both clinical and molecular status, allowing the characterization of an at-risk allele in each tested FSHD family (maximal LOD score 2.98 for theta=0.0).
This indirect protocol can easily complement conventional techniques in prenatal diagnosis.
Although our multiplex PCR-based approach technically fulfils guidelines for single-cell analysis, the relatively high recombination risk hampers its application to PGD.
Thursday, November 26, 2009
Sunday, November 22, 2009
Favorite Thanksgiving Recipes and other highlights from the Celebrated Chefs program
- Sign Up for the Celebrated Chefs program and help fund FSH Muscular Dystrophy research.
(could not be easier)
Happy Thanksgiving!And thank you for supporting Friends of FSH Research through Celebrated Chefs. As an exclusive thank you for your support, five of our chefs have generously shared a favorite recipe for you to enjoy this season. From their kitchen to yours, we hope these new dishes will be part of your Thanksgiving celebration. Perhaps a new family favorite will emerge!
Go to the link & read more about the Celebrated Chefs program & get some great recipes too.
Saturday, November 21, 2009
It is hard to believe but we are rapidly approaching our 6th "FiSHing for a Cure" gala!
When we began Friends of FSH Research in 2004, it was out of a sense of determination mixed with desperation. How could my son, previously a picture of health, have a condition that would impact his life and eliminate many of his opportunities? As a parent and a nurse, being told that there was absolutely nothing I could do to impact his condition was unbearable and unacceptable.
So taking our love for Brian and a trust in our community we embarked on a new journey of fundraising for Facioscapulohumeral Muscular Dystrophy (or FSH) research. We owe much to all of those who have joined with our family on this mission - the progress we have made is due to their generous support.
Our work must continue. We have new FSH researchers launched and have stimulated interest in this long neglected field. The research is moving forward, our knowledge is building and collaborations between laboratories is on-going. Funds raised on January 30th will help us push this work forward - toward a much needed treatment.
My warmest thanks to you all,
Thursday, November 19, 2009
Great write up of some of what it takes to conduct a fun raising event.
Congratulations to all those involved in the "Rock & Roll" event!
Monday, November 16, 2009
I really must start writing more letters & making the phone calls to tie down items for this auction.
We attended the Best of Northwest Art Fair this past week-end. Such an amazing group of people! Without the support of the Northwest art community I don't believe we would have ever obtain the level of success we have had. Again this year was quite phenomenal, the giving was open & generous. No matter how well the artist has done this year, or this show, most were ready and even eager to lend a hand.
Many many thanks to each and every one of the artists from the Best of the Northwest Art Fair!!!
Saturday, November 14, 2009
Gene Therapy Can Improve Muscle Mass And Strength In Monkeys, Research Suggests
Exciting times - more and more hope abounds for a treatment for Muscular Dystrophies.
Friday, November 13, 2009
This is a blurb from the Network for Good folks -
how true, yet how hard to obtain.
Our organization has worked to raise the awareness of FSH, to tell how lives are altered by this condition and why people should care about it & the lives it changes. Every year I have requested personal stories to share. I have asked for stories, long or short to share - offered stories to be anonymous.... few responses have ever been submitted. Some may feel that we only talk about our son.... unfortunately, I have few other stories to tell.
"Ask any non-profit, and they'll tell you there's nothing better than a personal, heartfelt story to put a face on their cause. Far better than organizational blah-blah or sterile statistics, stories help donors (and future donors) learn an organization's personality. Stories help donors feel engaged in the work-and see the difference they can make in a real person's life. They empower the organization and its supporters to continue on."
Personal stories - life experiences are what people care about, why they will give...
Wednesday, November 11, 2009
Treatment to improve degenerating muscle gains strength
Contact: Mary Ellen Peacock
Nationwide Children's Hospital
Treatment to improve degenerating muscle gains strength
A study appearing in Science Translational Medicine puts scientists one step closer to clinical trials to test a gene delivery strategy to improve muscle mass and function in patients with certain degenerative muscle disorders.
Severe weakness of the quadriceps is a defining feature of several neuromuscular disorders. Researchers at Nationwide Children's Hospital have shown that a gene delivery strategy that produces follistatin – a naturally occurring protein that inhibits myostatin, a growth factor expressed specifically in skeletal muscle – directly to the quadriceps of non-human primates results in long-term gene expression with muscle enhancing effects, including larger muscles with greater strength.
Previously, Nationwide Children's researchers demonstrated follistatin's therapeutic potential using rodent models. This more recent study produced similar results in non-human primates, in a translational study to demonstrate efficacy in safety in a species more closely related to humans. Non-human primates that received the injection of the follistatin transgene experienced pronounced and durable increases in muscle size and strength. Muscle growth occurred for 12 weeks after treatment, after which time the growth rates appeared to stabilize and were well tolerated, with no adverse events noted over the course of the 15-month study.
"Our studies indicate that this relatively non-invasive approach could have long-term effects, involve few risks and could potentially be effective in various types of degenerative muscle disorders including multiple forms of muscular dystrophy," said the study's corresponding author, Brian Kaspar, PhD, principal investigator in the Center for Gene Therapy of The Research Institute at Nationwide Children's Hospital.
Jerry Mendell, MD, principal investigator in the Center for Gene Therapy at Nationwide Children's added, "These findings serve as the basis for testing in patients and give us confidence in moving forward with our translational program of follistatin to enhance muscle mass."
The research team has developed a plan with the Food and Drug Administration and is currently in the process of performing the formal toxicology and biodistribution studies to support initiating a human clinical trial.
The potential use of this strategy for muscle strengthening has important implications for patients with muscle diseases including Duchenne muscular dystrophy – the most common form of muscular dystrophy – as well as for the planned first clinical trial for inclusion body myositis. It also may be applicable to other forms of muscular dystrophy, such as facioscapulohumeral muscular dystrophy, in which gene replacement or other types of gene manipulation are not feasible because of the absence of a specific gene defect.
"Eat the colors of the rainbowGreat source of information at http://www.eatingwell.com/
Eat the colors of the rainbow. It's easy to identify foods with the highest levels of antioxidants—they're often the most colorful. Carrots and sweet potatoes have plenty of beta carotene; bell peppers, strawberries and tomatoes contain vitamin C; tomatoes and watermelon have lycopene; and dark leafy greens like spinach contain lutein. Blueberries have anthocyanins. Red grapes have resveratrol."
Tuesday, November 3, 2009
To read more about this man and more from this blog go to kissatlanta.com/blog
Why I’m leaving
As many of you know, I have an ever progressing genetic disorder known as FSH Muscular Dystrophy. Earlier this Summer, I finally lost the ability to drive. As my disease has progressed, I’ve always managed to adapt to my physical losses and keep some amount of my independence. Driving was a major part of this. Now, if I want to leave my house, I am 100% dependent on other people to do so. If I so much as want to get a coffee, I have to schedule it with someone else. This is something I am not coping well with. In fact, I’ve been horribly depressed and miserable about it.
I’ve lost the ability to do a lot of things in my life, and every time I make an adaptation to counter it. When I had a hard time walking, I went into a chair and was actually relieved to be able to get around so easily. Now, I just need to adapt again and move to a community where I can take a cab, bus, or walk anywhere I need to go regardless of time of day or night.