Doug Gould, PhD

Professor

I earned a BSc in Biological Sciences with a specialization in Genetics from the University of Alberta in Edmonton. My interest in science derived from a desire to understand, and ideally prevent or treat, human disease and so I joined Dr. Michael Walter’s lab in the Department of Medical Genetics for my PhD work. For my thesis project I used genetic linkage analysis and candidate gene approaches in small families with highly penetrant ocular dysgenesis to identify genes that, when mutated, cause developmental glaucoma. I then decided to approach these problems using genetic approaches in model organisms and so I joined Dr. Simon John’s lab at The Jackson Laboratory as a postdoctoral fellow. While using mutagenesis to develop new genetic models of glaucoma I discovered a mutation in the gene encoding type IV collagen alpha 1 (COL4A1) in mice. We now know that mutations in COL4A1 and COL4A2 are pleiotropic and genetically complex and lead to a vast spectrum of seemingly unrelated human diseases. My lab now works to characterize these diverse pathologies and understand the molecular mechanisms that underlie disease with the hope that we may develop therapeutic interventions. When not working I enjoy music, sports and the great outdoors.

Cassandre Labelle-Dumais, PhD

Associate Researcher

My interest in development and disease stemmed from my undergraduate training at McGill University where I earned a B.Sc. in Biology. To pursue this interest, I joined Dr. Dufort’s lab at McGill University to conduct doctoral research focused on elucidating the molecular mechanisms regulating early embryonic patterning and ovarian functions. This training provided me with a strong foundation in molecular, cellular and developmental biology that I applied as a postdoctoral fellow in Dr. Flores lab at the Douglas Mental Health University Institute where I studied how alterations in the molecular pathways involved in the neuronal circuit organization modulate susceptibility to develop neurobehavioral disorders. Next, I joined the Gould lab where we study the biological roles of type IV collagen alpha 1 (COL4A1) and alpha 2 (COL4A2). We hope to elucidate the pathogenic mechanisms underlying human disorders caused by COL4A1/COL4A2 mutations to ultimately help developing targeted therapeutic interventions for patients.

My research focuses mainly on neuromuscular, cerebrovascular and skeletal diseases caused by COL4A1/COL4A2 mutations and has provided significant insights that extend to all aspects of the COL4A1/A2 syndrome. Notably, we have demonstrated that allelic and tissue-specific mechanistic heterogeneities contribute to the variable expressivity of COL4A1/COL4A2 mutations, identified a functional subdomain critical for tissue-specific pathology, and described mutation-dependent responses to a potential therapeutic strategy. These findings have significant implications for disease prognosis and the development of mechanism-based interventions and have geared my current research program toward the characterization of COL4A1/COL4A2 tissue-specific roles and identification of selective therapeutic targets to develop personalized therapies for patients with COL4A1/COL4A2 mutations.

Mao Mao, PhD

Associate Specialist

I am from Qidong, China, a small town located on the north side of Yangtz River opposite Shanghai. I received a B.S. degree in Biological Sciences with specialty in Biophysics and Neurophysiology at the University of Science and Technology of China. I joined Dr. Michael Anderson’s lab at the Department of Biophysics and Physiology in the University of Iowa for my Ph.D. training. My thesis project was to use a forward genetics approach in mice to study genes that causes early onset glaucoma. To further my expertise in translational genetics and eye development, I joined the Gould lab where I study the role of COL4A1 in ocular dysgenesis including anterior segment dysgenesis and optic nerve hypoplasia. I seek to determine the molecular basis of these ocular developmental disorders and understand how extracellular matrix proteins contribute to ocular disease. When not at work, I enjoy reading, music, cooking, hiking and travel.

Dawiyat Massoudi, PhD

Associate Specialist

My interest in biomedical research emerged during my Master’s degree in Dr. Suzanne Menashi’s laboratory at the University Paris-EST Créteil where I studied corneal wound healing. I soon after joined Dr. François Malecaze’s laboratory at the University Toulouse III-Paul Sabatier for my Ph.D. training. My research focused on studying the implication of type XII collagen, a member of FACIT collagens in the establishment and the maintenance of corneal fibrosis after injury. After earning my Ph.D. in biomedical sciences, I joined Dr. Daniel Greenspan’s laboratory at the University of Wisconsin-Madison for postdoctoral training where I studied the role of BMP1-like proteinases and their enhancers, the PCPEs in tissue homeostasis and wound healing. I joined the Gould laboratory in 2019 where I have two major projects. The first is to elucidate the importance of IRE1α, a major player of the unfolded protein response, in retinitis pigmentosa. The second project focuses on general cellular pathways involved in folding and secretion of COL4A1/A2 heterotrimers. When I am not working, I enjoy reading, meditation, long walks, running, hiking, kickboxing.