FSHD1 and FSHD2 are used to describe FSHD symptoms that are associated with a reduction in D4Z4 repeats (FSHD1) and symptoms that are not associated with repeats (FSHD2)
FSHD Global provides funds to Melanie Ehrlich to investigate other genes and gene regulation regions on the chromosomes that may be involved in FSHD. This work contributed to a 2011 publication that looked at the effect of FSHD on the timing of DNA replication (making copies).
Professor Rosella Tupler is given funding to investigate the mechanisms controlling the expression of genes in FSHD. Their research led to the discovery of some novel regulatory mechanisms, and one publication.
Dr Frederique Magdinier is given funding for research looking at how the differences in the D4Z4 repeat region lead to FSHD. In particular the research investigated the interaction of chromatin, the protein that packages up DNA, with the D4Z4 region.
Dr Davide Gabellini is given funding to further investigate the effect of decreased D4Z4 repeats. His research identified changes in the proteins that are associated with the chromosome region in FSHD, and the presence of certain RNA molecules that do not lead to protein production. (non-coding RNA)