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Race for a cure!

Calling all racing fans! The FSH Society is headed for the big screen at the Indy 500 this weekend where we will launch a gift matching campaign. This Sunday at the 99th running of the Indianapolis 500 Mile Race at the Indianapolis Speedway we will unveil a new Public Service Announcement (PSA), which will air on a jumbotron to some 500,000 fans in attendance. The PSA features eye-catching portraits of FSHD patients and families and encourages fans to donate in support of finding a cure for FSHD. A generous benefactor will match donations to the Society during the Indy 500 weekend. You don’t need to be in attendance to support the campaign or share the PSA! You can get involved today. Give now and the first $3,000 in donations will be matched dollar for dollar!

Share the PSA today over your favorite social media channels to encourage others to join the campaign. You can simply copy and paste:  Watch @FSHSociety #Indy500 #CureFSHD PSA today and donate to have your $ gift matched! http://bit.ly/1AgEGvv

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Setting a new record in our funding of research

In the first half of 2015, the FSH Society has awarded $485,840 in grants to new projects in facioscapulohumeral muscular dystrophy research. These projects were among a competitive group that was submitted in August 2014 for review by our Scientific Advisory Board. They include deep dives into how the genetics of FSHD affects the early development of muscle cells and into the lingering and all-important mystery of why muscle weakens in FSHD. Other studies will explore novel genetic and biochemical pathways that may be involved in FSHD.

With these awards, the Society continues to significantly expand funding for FSHD. In 2014, the Society funded a total of $819,261, a 24 percent increase over total funding in 2013. This year, we have set a goal of increasing our research funding to $920,000, a goal we hope to attain through the steadfast support of our members, fundraising event organizers and benefactors. We all owe them a tremendous debt of gratitude for their hard work and generosity.

For details on our grant awards, please click here.

The Ticket in the Street

By Sarah Geissler

4ebe94_fe6989f192b0499a836b5a0cce73d6e7.png_srb_p_300_404_75_22_0.50_1.20_0.00_png_srbI watched as the cement beneath my feet appeared unceasingly like the perpetual roll of ocean waves. I thought about how clean it had once been, and how in the matter of a day it had an entirely new appearance. The surface stared back at me unrelentingly, until I was suddenly jerked from my planet and stuck back in to reality by a man who appeared to be late for his big city job. My mother walked beside me, it was warm for late September and I had to take off my jacket. It had only been a few minutes since we had stepped through the doors of Mass General Hospital, and already we appeared as zombies in a sea of people who always seemed to be late for something. It’s strange how when you learn something about yourself that should be a dramatic change, it doesn’t feel like it at first. I found myself feeling like I should be more upset, but I just couldn’t get myself to feel that reaction. This was the day I was diagnosed with FSH muscular dystrophy. Continue reading

FSH Society funds genome editing project

Michael Kyba (right) and colleagues in their lab

Michael Kyba (right) and colleagues in their lab

Genome Editing, or the ability to make designer changes to the human genome, was once firmly in the realm of science fiction, but recent discoveries have changed that. Although it is still not possible to change the genome of all cells in an individual’s body, it is now possible to make designer changes in cells from that individual grown in the Petri dish in the lab. These changes can allow us to prove or disprove hypotheses about the cause of FSHD, Continue reading

An incredible night for FSHD thanks to Russell and the East Brunswick High School Boys Volleyball Team!

23A positive and enthusiastic event for the FSH Society was held last night! A big thank you to Russell Caratenuto, his coach and team for spreading more awareness about the importance of FSHD. The school not only embraced Russell and his efforts, but wants to make the FSHD Fundraiser an annual event!

The special surprise of the night was actor Max Adler, who thanked Russell, the team, and school through a heartfelt video (see below). The crowd of students went wild and were touched by his generous words. Students tweeted their appreciation!

The event was just as meaningful to Max, who wrote: Continue reading

Facio partners with Evotec and initiates FSHD drug discovery program

WW15_Facio logo_300dpiFrom the Facio Therapies website

Facio Therapies and Evotec have entered into an agreement aimed at the identification of compounds showing activity as a potential treatment to stop the progression of FSHD. This agreement marks the start of finding a drug to overcome FSHD.

Facio’s drug discovery program aims to identify compounds that increase the activity of SMCHD1 and restore the repression of DUX4. These compounds are so-called small molecules, relatively simple compounds that are manufactured by chemical synthesis.

The project with Evotec entails the set-up and execution of an automated high-throughput screen to identify small molecules having a positive effect on SMCHD1 and DUX4 activity in human FSHD-affected muscle cell lines. Continue reading

aTyr Receives U.S. FDA Orphan Designation for FSHD drug

Screen Shot 2015-04-28 at 11.39.25 PMSan Diego-based aTyr Pharma (“aTyr”), a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today that Resolaris™ has been granted Orphan Drug Designation by the U.S. Food and Drug Administration (FDA) for the treatment of facioscapulohumeral muscular dystrophy (FSHD). Resolaris, an investigational new drug representing aTyr’s first Physiocrine-based product candidate in the clinic, is being developed as a first-in-class intravenous protein therapeutic for the treatment of rare myopathies with an immune component.

The FSH Society has collaborated with aTyr to recruit FSHD patients for clinical studies to analyze patients’ blood for potential biomarkers that could be informative for the Resolaris trial. (See our story here.) Continue reading

Volleyball fundraiser

By Russell Caratenuto III

EBVB15 Varsity (2)This May 6, I’m organizing an FSHD fundraiser with the East Brunswick High School boys volleyball team in order to raise awareness for FSHD. As I am personally affected by the disease, I was motivated to raise funds to help the fight against FSHD.  Before my diagnosis, I had never heard of FSHD, and I want to change that for other people. Continue reading

Bone Health in FSHD–What do I need to know?

Special talk by Dr. Carla Grosmann from the Kennedy Krieger Institute

Mid-Atlantic Patient Meeting Saturday, May 2, 2015. Noon-3:00 PM
Will be live streamed over the FSH Society’s YouTube channel.

Dr. Carla Grosmann

Dr. Carla Grosmann

Bone health is a topic that until recently has not been discussed in the context of FSHD, but we are beginning to realize that it is a significant medical concern in both women and men with FSHD. Muscle weakness leads to the loss of the ability to perform weight-bearing exercise and activities, which can increase the risk of osteoporosis (bone thinning). A fall can result in serious bone fractures, a difficult, prolonged period of recovery and rehabilitation, and permanent loss of independence.

At this meeting, Dr. Grosmann will discuss what is known (and not known) about bone health in FSHD patients, discuss risk factors for bone fractures and strategies for maintaining strong bones. She will describe an ongoing research study to increase our knowledge about this important topic: the FSHD Bone Health Study, designed to provide evidence for establishing guidelines for optimal bone health in the FSHD community.

Click here for more information about the event. The meeting will be streamed live, recorded and posted to the FSH Society YouTube channel.

The very model of a modern epigenetic disease

The D4Z4 repeat region at location 4q35 on chromosome 4 differs markedly among healthy, FSHD1, and FSHD2 individuals. Healthy individuals have numerous D4Z4 repeats which are highly methylated (black dots). FSHD1-affected individuals have few repeats, and these are hypomethylated (light dots). FSHD1 non-manifesting, or unaffected, individuals, also have few repeats, but these have higher methylation (half-filled dots). FSHD2 individuals have many D4Z4 repeats, like healthy individuals, but they are severely hypomethylated. (Figure courtesy of Peter Jones, PhD.)

The D4Z4 repeat region at location 4q35 on chromosome 4 differs markedly among healthy, FSHD1, and FSHD2 individuals. Healthy individuals have numerous D4Z4 repeats which are highly methylated (black dots). FSHD1-affected individuals have few repeats, and these are hypomethylated (light dots). FSHD1 non-manifesting, or unaffected, individuals, also have few repeats, but these have higher methylation (half-filled dots). FSHD2 individuals have many D4Z4 repeats, like healthy individuals, but they are severely hypomethylated. (Figure courtesy of Peter Jones, PhD.)

Yes, we’re talking about FSHD

On those rare occasions (such as the FSHD Connect meeting) when large numbers of individuals with FSHD gather in one place, one can’t help but be struck by how greatly symptoms vary from person to person. Some twentysomethings are in wheelchairs, while some septuagenarians are still walking with the aid of a cane. One person’s face and body bear the unmistakable hallmarks of muscle loss. Another could pass for unaffected.

Such differences can be seen within a single family, even though all members have the same underlying FSHD genetics. Why so much variation? The answer may come down to a word much in vogue in biomedicine today: epigenetics. Continue reading