Dr. Jessica de Greef

I have a strong background in genetics, with specific training and expertise in muscular dystrophies. During my PhD training in the laboratory of Dr. Silvère van der Maarel (Department of Human Genetics, Leiden University Medical Center), I have contributed to unraveling the epigenetic disease mechanism of FSHD, showing that chromatin relaxation of the D4Z4 repeat array (loss of DNA methylation and loss of H3K9me3 and HP1γ/cohesin binding to the D4Z4 repeat array) is an important factor in FSHD pathogenesis. Furthermore, my PhD research showed that FSHD2 shares clinical features and epigenetic changes at D4Z4 with FSHD1, and I contributed to the hallmark study that showed that digenic inheritance of an SMCHD1 mutation and a 4qA chromosome causes FSHD2. Next, I was a postdoctoral fellow in the laboratory of Howard Hughes Medical Investigator Dr. Kevin Campbell (Department of Molecular Physiology and Biophysics, University of Iowa). Here, I studied the role of collagen VI in skeletal muscle pathology and function. This research involved histological and functional analysis of skeletal muscles from different muscular dystrophy mouse models. The skills I obtained as a PhD student in Leiden and as a postdoctoral fellow in Iowa City, I am using in my current position as a senior researcher in the department of Human Genetics at the Leiden University Medical Center. My research focuses on in vitro(muscle-on-chip) and in vivo(transgenic mouse) models for FSHD that can be used to study the disease mechanism and to test therapeutic options.