FSHD. A name that not everyone knows. But FSHD is one of the most common hereditary muscle diseases in the world. Worldwide, 300,000 people have FSHD. Scientific discoveries offer hope for the future. Doctors unravel the riddles surrounding the muscle disease step by step. An important new discovery recently followed. FSHD (facio scapulo humeral muscular dystrophy) is a disease that is not familiar to many people. Yet this is one of the most common hereditary muscle diseases in the world. One in 20,000 people suffer from FSHD. There are approximately 300,000 people worldwide who have FSHD. Although the first symptoms often begin to appear around the age of 20, there are also cases of children with FSHD. The hallmark of the disease is a progressive or increasing reduction in muscle strength, especially in the face, upper arms and thighs. The severity of the disease varies with time and person, but those who are severely affected by FSHD can become completely wheelchair dependent.
Medical discoveries
FSHD is related to chromosomes. It is a hereditary disease. More specifically, people with this muscle disease are missing part of the so-called chromosome 4. The latest research in the field of FSHD focused, among other things, on the question of how the lack of this piece of chromosome can result in loss of muscle tissue. Recently, researchers from the Leiden University Medical Center (LUMC), together with colleagues from the Fields Center (Rochester-Leiden-Seattle) and UMC St Radboud Nijmegen, were able to determine the cause. They themselves speak of a huge breakthrough in the medical knowledge of FSHD. Their findings were published in the leading scientific journal Science, to much international acclaim.
Much needed research
The research was partly facilitated by the FSHD Foundation. Chairman Kees van der Graaf of the FSHD Foundation: We congratulate the Leiden University Medical Center on this great discovery. More than ever, this message underlines that the money from our donors is actually of great value. We have taken a big step, but it is important that we continue now. Now more than ever, a lot of money is needed for research into a cure. The discovery is an important step, but is seen as a starting point for further research. Kees van der Graaf: The FSHD Foundation has continuously strived to unravel the cause of the disease with its ‘roadmap to solutions’. This has enabled scientists from many different disciplines to conduct broad research from various perspectives. Now that we know exactly how FSHD comes about, the solution in the form of therapy for patients has come a little closer. We are still a long way from getting there and we need a lot of support.
The role of the FSHD Foundation
The precise support of the FSHD Foundation consists of so-called AIO and postdoc financing for the LUMC, but also from the organization of seminars, the financial support of research projects and the provision of guarantee subsidies.
Research leader Prof. Dr. Silvère van der Maarel of the LUMC Department of Human Genetics recognizes the crucial role of the FSHD Foundation: This breakthrough is partly due to the support provided by the FSHD Foundation. The foundation is always willing to step in, provide certainty and finance pilot studies, which allows our team to continue. Now we know the cause and we can try to treat the disease by switching off the specific gene. This just won’t happen overnight. A lot of money and time is still needed for research before we can offer patients a therapy.
Science and FSHD: how and what
It was the same researchers from the LUMC who reported eighteen years ago that FSHD is caused by a shortening of a so-called ‘rehearsed DNA structure’ at the end of chromosome 4. Normally chromosome 4 comprises 10 to 100 units. When there is FSHD, the chromosome contains only ten or even fewer. After the discovery of the cause of FSHD, the question was for years how exactly this shortening led to muscle disease. FSHD has remained and remains the subject of intensive research worldwide. It has now been shown that shortening the chromosome creates a more stable form of a certain protein, which is harmful to muscle cells. As a result, muscles are slowly broken down.
The FSHD Foundation: who and what
The founders of the FSHD Foundation are Kees and Renée van der Graaf, parents of a son who suffers from FSHD. They founded the foundation in 1997. The Foundation raises funds to stimulate, facilitate and finance scientific research into the causes and backgrounds of FSHD. The hope is to discover cures and improve the quality of life of FSHD patients. The tangible results that medical science is achieving, partly thanks to the FSHD Foundation, are a good argument for supporting the Foundation.
