Harvard Neuromuscular Disease Project
Clinical Specimen and Data Core
The four projects in this Program Project share the common theme of characterizing and understanding normal and abnormal patterns of gene expression in developing muscle from the stem cell stage through to maturity.
The Program PIs have a long and extensive history of interaction and have exchanged many ideas, biopsy samples, and other reagents over many years, and this research project is designed to further strengthen these collaborations and to produce synergistic results that are beyond the scope of any one laboratory. The services of the Clinical Specimen and Data Core (Core B) will be an important means by which the Harvard Neuromuscular Disease Project will meet these goals. The techniques required to perform the aims of this Core are standard within the laboratories of each PI. By centralizing these techniques, formalizing data and tissue collections, and developing a database within the Muscular Dystrophy Research Portal (MDRP), Core B will increase efficiency and provide standardization to the analysis of data for each Project and the Program overall.
Toward this end, the aims of Core B are designed to maximize efficiency and minimize both administrative and technical effort and expense.
Aim 1. Ascertain the Harvard Neuromuscular Disease Project patient and control participants and acquire the comprehensive clinical data, peripheral blood samples, and muscle tissue samples from both patients and controls (Projects served: 1, 2, 3, 4, Core C).
Aim 2. Catalogue and track all clinical (Aim 1) and diagnostic data (Aim 1 and 4) pertaining to patients and blood/tissue samples. Annotate and enter all data into the muscular dystrophy research portal (MDRP) (Projects served: 1, 2, 3, 4, Core C).
Aim 3. Prepare muscle tissue samples for gene expression analysis. Isolate mRNA and synthesize labeled cDNA/cRNA for hybridization to Affymetrix oligonucleotide and Genetic Microsystems cDNA arrays (Projects served: 1, 2, 3, Core C).
Aim 4. Isolate DNA from patient blood samples and provide selective verification of participant's disease mutations (Projects served: 1, 2, 3).