Thank you for your interest in learning more about the research that we are conducting on neuromuscular diseases. This section contains information for patients and their families on our research goals, on why we are conducting our research, as well as a brief description of how we perform our research .

Thanks to the efforts of the Human Genome Project, we can estimate that human beings have 30,000 to 50,000 genes. (For a review on genes, proteins, and genetics, go to the Genetics Review section.) For many years researchers have known that not all of these genes are “turned on” at once. All genes (when active) encode proteins, but not all proteins are present in all the cells of our body. Most proteins are present in specific cells at a specific point of ones lifetime. The genes that are turned on actively code for the proteins that provide the structure of our bodies and help it to function. At some ages some genes may get “shut off” automatically, while at other ages these same genes may be “turned on” automatically. For example, there are genes that code for proteins that are critical in the developing muscle of an embryo. However, these proteins that build muscle during development are very different from the proteins that genes code for in order to maintain and use muscle in childhood and adulthood.

Also, different proteins are present in patients with neuromuscular diseases than in unaffected individuals. Therefore, we want to understand normal patterns of gene expression, so that we can better understand how abnormal gene expression patterns cause the disease. By learning more about the genes involved in neuromuscular disease, we aim to understand the genetic alterations that cause specific neuromuscular disease. This should allow us to better diagnose individuals with particular diseases and lead to rational treatment for these disorders.

Many of the neuromuscular disorders (dystrophies and myopathies) are rare and are generally not well understood. In the neuromuscular research laboratories at Children’s Hospital, we know we must start somewhere. To reach our goals, we count on volunteer patients and families to enroll in our studies. If you are the parent of an affected child, or you yourself are affected, you can make an important difference by helping us to learn more about these neuromuscular diseases. For more information on how to participate, click here.

The goal of our research on neuromuscular diseases is to better understand which genes are “turned on” and which genes are “turned off” in muscle during the course of a lifetime (from fetal life to adulthood). Research has shown that muscle samples of individuals with neuromuscular disease have abnormal patterns of gene expression. In other words, the expression of their genes is different from that of individuals who are not affected with a neuromuscular disease.

To achieve our research goals, we need to enroll patients with specific neuromuscular disorders. In order to confirm which neuromuscular disease a person has, we review a copy of genetic testing reports. If genetic testing was not done, we may ask to draw blood in order to look at a person’s DNA for mutations.

We are actively looking for individuals who are affected with the following neuromuscular disorders:

• Limb Girdle Muscular Dystrophy
• Duchenne/Becker Muscular Dystrophy
• Facioscapulohumeral Dystrophy
• Myotonic Dystrophy
• Miyoshi Myopathy
• Myotubular Myopathy
• Centronuclear Myopathy

For our research to be successful, we need to study the DNA and muscle of many individuals so that we can learn as much as possible about the causes of these diseases. We do this by looking at patterns of gene expression using microarrays. This is a special technology that looks at the expression of thousands of genes simultaneously.

We are using DNA Chip Technology or Microarray Expression Analysis to identify the changes in gene expression in certain muscular dystrophies and myopathies. The different signals (bright colors)we see represent which particular genes' expression patterns vary across the samples. New hypotheses about the origin of muscle disease can be created by the descriptive information obtained from this specialized technology. We aim to clarify the similarities and differences between the different neuromuscular disorders by using this technology.

The specialized technology that we are using in our research is very complicated to explain, but has shed some light on some very difficult questions. Researchers have shown that mutations in different groups of muscle-associated genes cause similar problems in the biochemical and molecular networks that help our muscles to function properly. Therefore, we have learned that different mutations in different groups of genes can produce similar muscle disease.

For a more detailed and technical description of microarray analysis on this web site, please click here.
Go to Microarray Technology, DNA Chips or to the Microarray Project to view web sites that offer useful information for individuals interested in better understanding the microarray technology.