Some of the projects I’m involved in
DMD Genetic Modifier Study
This study seeks to find genetic variation that contribute to the variability we see in Duchenne patients. For instance, boys lose the ability to walk independently between the ages of 6-18. Even boys with the same genetic deletion show differences
This data set has information on over 2000 boys and men with Duchenne encompassing aspects such as age of diagnosis, medication and supplement use, age at loss of ambulation and mutation spectrum. Most interestingly, we were able to replicate the results of larger, more expensive clinical trials simply by using a web based questionnaire and never seeing a single patient in person.