Thursday, April 23, 2009

Assumptions - Living with FSHD

My friend Anne has allowed me to share her story here on my blog. Please take a moment to learn more about living with Facioscapulohumeral Muscular Dystrophy.


We all make assumptions about others based on our own life experiences. Sometimes assumptions are helpful. Many times they are not.

The physical challenges faced by those with a disability are many but they can usually be overcome. It is the attitudinal barriers that are difficult to deal with. It is the attitudinal barriers that ultimately isolate and break the spirit.

The thoughts and stories I have shared are not things I usually talk about. This is a very personal piece but my reasons for completing the work are not personal. My intension is to “shed some light”…”create awareness”….of the damaging consequences that can result when people make assumptions …especially as they relate to individuals with a disability.

I hope my story will encourage reflection and dialogue.

Anne Harland
Canadian FSHD Network
Caledon, Ontario
905 843-1403

Wednesday, April 22, 2009

New Candidates for the Pathophysiology of FSHD

RNA Transcripts, miRNA-sized Fragments, and Proteins Produced from D4Z4 Units: New Candidates for the Pathophysiology of Facioscapulohumeral Dystrophy

Oxford Journals
Human Molecular Genetics
April 9, 2009

This is the published report from the work funded by the donations received by the Friends of FSH Research. I am thrilled that this work has been published and may stimulate new interest & activity in the field of FSH research. I hope this work will open new doors which may one day lead to the development of a treatment for FSH Muscular Dystrophy.

Thanks to our many generous donors!!

Thank you to the dedicated work of Stephen Tapscott, Daniel Miller and the other scientists involved in this study. (Lauren Snider, Amy Asawachaicharn, Ashlee E. Tyler, Linda N. Geng, Lisa M. Petek, Lisa Maves, Richard J.L.F. Lemmers, Sara T. Winokur, Rabi Tawil, Silvère M. van der Maarel, Galina N. Filippova)

Click here to read the published abstract.

Friday, April 17, 2009

Dreams that might be Possible using Stem Cells

Limited Federal Funds for Stem Cell Work Using Donated Embryos

Washington Post Staff Writer
Friday, April 17, 2009; 12:51 PM

The Obama administration today is announcing guidelines for government-sponsored embryonic stem cell research but the draft regulations would limit federal funding of work on human embryos donated at fertility clinics.

The guidelines being issued by the National Institutes of Health open the door for a vast expansion of the research, but stop short of allowing scientists to create human embryos for research purposes or pursuing cloning techniques.

Administration officials took the more conservative approach largely for political reasons, rather than any particular scientific concern.

To read the complete article go to the Washington Post.

Thursday, April 16, 2009

Inspiring - Dreams Can Come True!

A dream I dream....

We all can use inspiration when times are difficult.

My dream is for my son to have every opportunity possible, to beat the odds and have a treatment for FSH Muscular Dystrophy.

I think everyone can find inspiration watching & listening to the singing of Susan Boyle.

Keeping the dream Alive!

Tuesday, April 14, 2009

Stem Cell Development - Promise & Hope

iZumi Bio, a company specializing in stem-cell research used to create a range of treatments, has landed $20 million in first-round funding and a partnership with Kyoto University in Japan to conduct parallel studies and collaborate on the results.

One of the company’s primary investors is Kleiner Perkins Caufield & Byers, a firm that has been vocal in its support of stem-cell based therapies for Parkinson’s disease, diabetes and muscular dystrophy. Former vice president and Kleiner partner Al Gore announced the firm’s involvement, calling iZumi’s advancement in the area “a very important breakthrough that is filled with promise and hope.” Highland Capital Partners also contributed to the round.

Based in South San Francisco, Calif., iZumi is different from most stem-cell research groups because it focuses exclusively on induced pluripotent stem cells — skin cells that can be endowed with the same pliant properties as stem cells. They are significant because they provide a viable alternative to controversial embryonic stem cells, which have been a political sticking point for years. One of the main goals of the partnership with Kyoto University will be to discern how to best generate pluripotent cells for treatment development.

Click here to read more about iZumi & the work being done.

Wednesday, April 8, 2009

Australia's Biggest Book Group - Raising money for Muscular Dystrophy

Read about Lucy Burns & her work to impact FSH & Muscular Dystrophy Research in Australia

Click here to watch U-Tube Video

Learn more about what is going on "down under" at their website

Australia's Biggest Book Group

Raising money for Muscular Dystophy reasearch and care.

Would you like to be part of this year's most sophisticated and exciting fundraising event?

Why not join in the fun? Go to

Stem Cell Research - Exciting Possibilities!!

Lighting up muscle stem cells could lead to important medical breakthroughs

UTHSC scientists publish an important paper on modifying muscle stem cells
Wednesday, April 8, 2009

Some San Antonio researchers are calling it a “breakthrough.” They’ve discovered a way to “turn on” specific stem cells in mice to generate muscles. It’s information that could one day lead to new drugs to treat everything from cancer to muscular dystrophy to regular old aging.

Some San Antonio researchers are calling it a “breakthrough.” They’ve discovered a way to “turn on” specific stem cells in mice to generate muscles. It’s information that could one day lead to new drugs to treat everything from cancer to muscular dystrophy to regular old aging.

At San Antonio’s Greehey Children’s Cancer Research Institute, eight scientists have spent the last two years tweaking muscle stem cells. By altering a gene, the team was able to light up these satellite cells and watch them divide. The subjects were mice, and a genetic modification led to proliferation of these important muscle builders.

“By putting a switch in, we could pick the time and the place during the animal’s life, during the mouse’s life, to turn on mutations,” explained Dr. Charles Keller, a U.T. Health Science Center childhood cancer researcher. “We want to be able to accelerate it for short periods of time, turn it off, let those stem cells develop into normal muscle that can very actively contract and be very functional.”

The findings are published in the March edition of the Journal of the Federation of American Societies for Experimental Biology.

Dr. Keller specializes in children’s muscle cancers, but he says the implications of tweaking muscle stem cells reach far beyond his specialty. The goal is to create medication that could mimic the genetic change and help with repair of injured muscles, muscular dystrophy, and the preservation and rejuvenation of aging muscle. The idea is to harness the body’s own ability to regenerate muscle cells.

“You can take something like childhood cancer, which is relatively rare,” Keller said, “and it will lead you down a path that helps you discover things that are much more relevant to people beyond just children with cancer.”

The study was, in part, tax dollars at work in the form of funding from the National Cancer Institute. Additional money came from the Texas tobacco settlement fund.