The major focus in MMD research has been on the molecular underpinnings of the disease. To date, most of the work has been done using animal and cellular models of type 1 MMD. However, many experts believe the findings from the MMD1  experiments will have implications for MMD2  as well.
In both these conditions, the underlying defect is an expansion of DNA. In MMD1, it's the chemical sequence cytosine, thymine, guanine (CTG) in a gene on chromosome 19. In MMD2, it's the chemical sequence CCTG in a gene on chromosome 3. (See Causes/Inheritance .)
During the normal process by which cells transcribe DNA into RNA, the expansion is likewise transcribed, resulting in a long, unruly strand of RNA that stays in the cell nucleus and forms a trap for various cellular proteins. For instance, the protein known as MBNL1, which has a crucial role in ensuring that other proteins are properly formed, is trapped in this toxic "web" of expanded RNA in both forms of the disease.
Most of the strategies aimed at treating the underlying causes of MMD1 and MMD2 aim to either destroy the expanded, toxic RNA in MMD-affected cells, or block the interactions between it and proteins.
Three MMD researchers whose work is particularly promising are using these strategies:
To learn more, read MMD Research: Seeking to Free Proteins from a 'Toxic Web' .
In January 2013, in recognition of the likelihood that clinical trials will soon be conducted in MMD1 and MMD2, MDA established a five-center clinical research network . The researchers in each center will work together to standardize methods of evaluating disease severity and will determine the best ways to assess whether experimental treatments are beneficial.
The new MMD centers are: