Genetic Mutations & Testing:
The number one most important piece of information to know when your child is diagnosed with Duchenne muscular dystrophy is their genetic mutation.
If your insurance doesn’t cover genetic testing or you can’t find or understand your child’s genetic report, please go to decode duchenne for free genetic testing and to talk with a genetic counselor.
Clinical trials are in progress and are currently enrolling for mutation specific, and non-mutation specific. In order to enroll your child in any clinical trial for Duchenne, you must have their genetic report to understand their mutation and what treatment they may or may not be amenable to.
Below is a chart of the in-frame genetic mutations in Duchenne that can be treated by Exondys 51, or are in the drug development pipeline.
With the recent FDA approval of Exondys 51, a targeted therapy that treats the 13% of the population amenable to the skipping of exon 51 on the dystrophin gene, the first treatment for Duchenne patients is now commercially available.
Genetics Home Reference provides consumer-friendly information about the effects of genetic variations on human health.
The GeneTests is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers that promotes the use of genetic services in patient care and personal decision making.
Informed Medical Decisions, Inc. is a nationwide-network of genetics experts available by telephone to help patients and providers harness the power of genetics to achieve the promise of personalized healthcare.
Know Your Genes is a public service provided by the Genetic Disease Foundation, a nonprofit foundation supporting research, education and the prevention of genetic diseases.
A Revolution in Progress Human Genetics and Medical Research is an exhibit produced by NIH. Cracking the genetic code allowed us to study diseases at the molecular level, which is increasing our knowledge of potential preventions and treatments for diseases.
The Talking Glossary of Genetics Terms features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.