Some of the projects I’m involved with
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
Duchenne Registry (formerly DuchenneConnect)
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.
Undiagnosed Disease Network
Utilized molecular, genomics and bioinformatic techniques currently unavailable to the general medical population for the diagnosis of diseases defying diagnosis. We applied RNA-seq, copy number variation, exome/whole genomes sequencing to samples derived from primary tissue and also developed iPSC model cell lines from individual patients.
Patient Centered Outcomes Research Institute
Worked with a group of patient registries and hospital health systems to harmonize data access and sharing of rare disease patient groups. We were able to identify “computable phenotypes” that identify individuals with a particular diseased based on their ICD9/10, diagnostic record and lab tests.