Biomarkers for Therapy of FSHD- Project 3 Animal Models of FSHD for Therapy Development

In Project 2 we propose to follow up on our original findings and use protein, miRNA and mRNA expression profiling as an approach to understanding the differences in disease severity in different individuals with the 2 deletion, with the hope that this understanding might lead to the identification of biomarkers which will be useful for assessing the success of possible therapies for facioscapulohumeral dystrophy (FSHD). We propose to accomplish this goal according to the following specific aims:

Aim 1. Continue to profile mRNA from FSHD patients, control muscle and cell lines generated from differentially affected muscles, and confirm existing and new array data by RT-PCR.

Aim 2. Confirm our observation on the differential expression of certain miRNAs in FSHD muscle and arrays from Aim 1 and protein studies in Aim 3.

Aim 3. Continue to define the changes in the proteome in FSHD muscles.