Issues

Kym Boycott is currently a Clinical Geneticist at the Children's Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute, in Canada, where she tries to better understand mechanisms of rare genetic diseases and improve the management of pediatric patients with these conditions. Her interest in Medical Genetics dates back to her undergraduate studies at Queen's University in Kingston, when she was captured by Dr Patrick MacLeod's lectures on this subject. Thus, she embarked on a PhD in Medical Genetics and joined Dr Torben Bech-Hansen's lab at the University of Calgary, where she investigated the cause of a rare genetic form of vision loss. After completion of her PhD, she attended the medical school program at the University of Calgary and obtained her MD in 2005. Having both a PhD and MD allowed her to have a translational perspective from the beginning of her career. At CHEO, Kym and her group aim to bridge basic and clinical knowledge to quickly diagnose – by using next-generation sequencing – and improve the management of rare diseases, also known as orphan diseases. Kym is co-leader of the Canadian Rare Diseases Models and Mechanisms (RDMM) project, the goal of which is to connect basic scientists who work with animal models to clinician investigators studying rare diseases, thereby catalyzing investigation of disease mechanism and in some instances facilitating therapeutic configuration for rare diseases. In this interview, Kym shares with us her unique experience and expertise, fighting on the front line against rare diseases.

Summary: Here, we discuss the emerging cell-culture models and potential stem-cell-based therapies for AMD, a blinding disorder that affects millions of people worldwide.

Highlighted Article: Neuroblastoma cells are stalled at a developmental stage at which they express high ASCL1. Multi-site phosphorylation of ASCL1, driven by elevated N-Myc and CDK activity, limits noradrenergic precursor and NB cell differentiation.

Highlighted Article: This study provides the first evidence that in vivo monitoring of the time course and dynamics of early microglia alterations might serve as sensitive predictors of late chronic neurodegeneration in a mouse model of inherited glaucoma.

Highlighted Article: Patient-derived induced pluripotent stem cells are used to establish an in vitro model of DMD-associated cardiomyopathy that could be used for future preclinical testing.

Summary: Use of this in vitro model showed that sodium valproate (VPA) can reverse the muscle phenotype from a McArdle-like to a normal histological and biochemical profile.

Summary: Can the fitness of deletion mutants in a murine model be predicted by their virulence in Drosophila melanogaster? For a fungal pathogen, the answer is, mostly, yes.

Summary: The extracellular protein ADAMTSL2 is a crucial regulator of microfibril composition in the extracellular matrix of bronchial smooth muscle cells and influences bronchial epithelial function.

Summary: We document expression of the innate immune factor Splunc1 in the murine middle ear and Eustachian tube, and describe spontaneous development of otitis media in mice lacking functional Splunc1.