Siddharth Nath, MD/PhD student -Spinocerebellar ataxia and Ataxin-7.

Sid the Kid joined the Truant Lab as an undergraduate summer student in 2011 working on investigating the cell stress response in Huntington’s disease.

2015 Human Molecular Genetics article.

Bitten by the research bug, he stayed in the lab as a thesis student in his third and fourth years of undergraduate studies, graduating from the Honours Biochemistry program at McMaster in 2013. He subsequently enrolled in the combined MD/PhD program, and is now a graduate student in the Truant Lab. His research is focused on understanding how cellular bioenergetics are disturbed in neurodegenerative disorders and how this can lead to dysfunction and disease. His work is supported by the CIHR MD/PhD Scholarships program.

Susie Son, MSc Candidate

Susie Son is a M.Sc. candidate studying the biochemical foundations of Huntington’s disease (HD). From bench top to biohoods to state-of-the-art imaging technology, she is currently investigating the regulation of huntingtin localization to and from the nucleus by a small protein called high mobility group box 1 (HMGB1). She aims to elucidate how and where the interaction between huntingtin and HMGB1 takes place and how this relationship changes in the presence of oxidative stress so that this knowledge can become applicable in the context of mutant huntingtin and HD. Her work involves a good balance of wet lab experimentation, computational analysis, and immunofluorescence microscopy. She began her journey in the Truant lab as an undergraduate senior thesis student, but was convinced to pursue a Masters degree in no time.

Claudia Hung, PhD Candidate

Claudia is a 3rd year Ph.D. student who completed her undergraduate studies at McMaster University in the Biochemistry and Biomedical Sciences program and began graduate work in 2013. Claudia is currently characterizing novel cell lines for modelling Huntington’s Disease to uncover disease phenotypes at the cellular level. Most cell and mouse models are generated with irrelevantly long CAG repeats that may overlook the importance of researching why some patients with the same CAG mutation length develop disease much sooner than other patients. These cell lines are based on patient fibroblasts to address subtle aspects of the disease relevant to humans and not more obvious phenotypes from mouse models that use extreme CAG repeat expansions. We are working on identifying novel phenotypes between cells from different HD patients, not just between HD and control patients, to gain insight on early disease mechanisms that are relevant to studying the huntingtin protein’s role in cellular stress response, DNA damage and cell death pathways.

Previous projects involved various biophotonic methods to help advance the study of cell biology in HD research for drug discovery including live cell imaging, widefield and confocal microscopy, detecting protein-protein interactions by FLIM-FRET, and super-resolutions structured illumination microscopy (SR-SIM).

2014 Human Molecular Genetics article:

Live cell imaging and biophotonic methods reveal two types of mutant huntingtin inclusions.

Hung CL, Caron NS,  Atwal RS, Truant RHum Mol Genet. 2014 May 1;23(9):2324-38. doi: 10.1093/hmg/ddt625. Epub 2013 Dec 11. PMID 24334607.

Laura Bowie, Ph.D Candidate, CIHR Doctoral Fellow

Laura is a PhD student who began her graduate work in 2012 after completing her undergraduate degree in Pathology and Toxicology at the University of Western Ontario.  Laura’s project began with a focus on using high content screening and unbiased computer analysis to identify compounds that affect the phosphorylation state of the huntingtin protein.  Increasing phosphorylation of huntingtin in the context of Huntington’s Disease is a known protective modification, so the goal of this venture was to identify potential protective compounds or novel pathways for drug targeting.  Out of this initial goal, several compounds and pathways of interest were identified and her follow-up validation utilized a number of classic biochemical techniques as well as biophotonic imaging. During the course of this follow-up, the nature of the compounds of interest from the various screens have led her project to touch on a number of areas including: the role of huntingtin in DNA damage, novel pathways of huntingtin phosphorylation, and the role of huntingtin in oxidative stress.

Celeste Suart, MSc. Candidate

Celeste joined the lab in 2016 from the Bachelor’s of Drug Discovery and Commercialization (BDC) program at McMaster. Her project is looking at the role of another CAG expansion disease protein, ataxin-1 and it’s role in DNA damage repair in Spinocerebellar Ataxia Type 1. This project revisits previous work from the lab as it is apparent ataxin-1 and huntingtin both have roles in DNA damage repair, and HD GWAS pathways have been found to be relevant for age of onset in SCA1. As exomic sequencing is more common in the clinic, more spontaneous age-onset ataxias are being identified as mutations in DNA repair factors.

DNA repair: A unifying mechanism in neurodegeneration.

Ross CA, Truant R. Nature. 2017 Jan 5;541(7635):34-35. doi: 10.1038/nature21107. Epub 2016 Dec 21. No abstract available. PMID 28002410


Dr. Tamara Maiuri, PhD, Research Associate

After obtaining her PhD in the Medical Biophysics Department at University of Toronto, Tam joined the Truant lab in 2010. Her project, funded by the HDSA Berman/Topper HD Career Development Fellowship, expands on her findings that reactive oxygen species (ROS) stress promotes the interaction of huntingtin with DNA repair proteins:

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex

Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R. Hum Mol Genet. 2017 Jan 15;26(2):395-406. doi: 10.1093/hmg/ddw395.

Using immunoprecipitation and mass spectrometry, she will identify a list of proteins that interact with endogenous wild type (WT) or polyglutamine-expanded (HD) huntingtin in response to ROS stress in immortalized patient-derived fibroblasts.