We know that changes or mutations in the Dystrophin gene are what cause Duchenne and Becker but we don’t have a good understanding of why people within the same family with the same genetic change (genotype) can be so different in their symptoms (phenotype). The Genetic Modifier Study is trying to figure out what genetic changes are playing a role in this difference of symptoms. In other words, what genes are modifying the person’s disease. This study involves looking at all the genes from each person and combining that with the clinical information about that person.  

As you may guess, the more people we have participate, the more powerful the study. So please join us! Together, we will try to identify genes and gene variants that may modify the disease process and that will move the community closer to find effective treatments for Duchenne and Becker.

How do I learn more?

Participation simply requires filling out a questionnaire and getting us a blood or saliva sample. We’ll do the rest and keep you up to date. Let’s use our community to move research forward. 

We greatly appreciate your participation and welcome questions. Please feel free to contact Dr. Richard Wang at 310-991-2674 (rtwang@mednet.ucla.edu) or Mrs. Emilie Douine at 310-267-2416 (edouine@mednet.ucla.edu) if you have any questions about the study. Alternatively, you can also reach out to the DuchenneConnect staff at coordinator@duchenneconnect.org or (888) 520-8675.

Why study genetics – don’t we already know what causes Duchenne and Becker?

Genetic studies are one way to identify targets for therapy and gain new insights into diseases like Duchenne and Becker muscular dystrophy. When we do  genetic studies with a large group of people, we can also study people with unexpected symptoms or outcomes. These individuals can help us learn unexpected things about the disease. For example, a recent study found an 18 year old man with Duchenne still able to walk. The cause turned out to be a rare mutation (change) in the gene CELF2A [1] that, at first glance, seems unrelated to Duchenne. This unexpected finding could  eventually lead to thinking about new pathways for treating Duchenne. With more people participating in these types of studies,  we have more opportunities to find more changes like this.

Many questions can be tackled by combining everyone’s genetic information with data available from health records and the DuchenneConnect Registry. Some questions we have include:

• Do some genetic changes make one susceptible to heart problems?
• For boys who do not have side effects from taking corticosteroids, do they have some genetic changes in common?
• Do some changes within the DMD gene lead to better outcomes than others?

You may even have good ideas of your own and we can ask them together.

We are excited about this study and the potential it has to make a difference. Having larger numbers of people in studies like this is critical to finding out more about Duchenne and hopefully finding potential treatments. 

Related links

Recruitment announcement: Genetic modifiers of Duchenne and Becker

DuchenneConnect

References

1. Martone J, Briganti F, Legnini I, Morlando M, Picillo E, et al. (2016) The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype. Nat Commun 7: 10488.