2010
Paper published in the journal Science reported the unifying genetic model of FSHD: that the underlying genetics of FSHD was mutations in the D4Z4 region lead to a ‘toxic gain of function’ in DUX4.
2010 – Paper published in the journal Science reported the unifying genetic model of FSHD: that the underlying genetics of FSHD was mutations in the D4Z4 region lead to a ‘toxic gain of function’ in DUX4. That is, when the mutations are present DUX4 is more active and this has negative effects on muscle cells.
FSHD Global funds:
Professor Melanie Ehrlich to look at cellular pathways that get damaged or confused in FSHD. Part of her work identified that genes expressed during muscle development are expressed at different levels in FSHD compared to non-FSHD.
A team lead by Professor Alexandra Belayew is given funding to investigate DUX4 in embryonic stem cells developed by Sydney IVF and FSHD Global.
A team lead by Professor Michael Kyba is funded to investigate new chemical inhibitors of DUX4 activity
Anuska2019-07-22T13:15:32+10:00
