Progress Update: DUX4 Transcription Factor

This award provides support for a dedicated professional highly skilled in FSHD research who performs high-impact studies of FSHD and provides scientific and technical oversight for investigators, graduate students, and postdoctoral fellows seeking to pursue projects in FSHD. In the last six months, we have:

  1. Completed the collection and processing of samples from year two of our multi-center Seattle Wellstone Center FSHD clinical study and published the assessment of year one (see Wang et al. 2018. Hum Mol Genet. doi: 10.1093/hmg/ddy364), with the goal of identifying biomarkers for disease activity and progression that might be used in future clinical trials.
  2. Generated a transgenic mouse that has the potential to enhance the utility of mouse models of FHSD, with the goal of improving preclinical studies of FSHD therapeutics.
  3. Initiated a new collaboration to determine how compounds of interest block the activity of DUX4, with the goal of developing novel therapeutics for FSHD.
  4. Maintained current collaborations to investigate DUX4-induced changes in the proteome, with the goal of understanding whether they contribute to cell toxicity and disease.
  5. Provided daily training and oversight to one postdoctoral fellow, three graduate students, three research technicians, and one bioinformatician studying FSHD.
  6. Facilitated collaborations with other labs to promote FSHD research, including sharing protocols, trouble-shooting experiments, and distributing reagents.

See grant Regulation and activity of the DUX4 transcription factor