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.

Yoshi Ishikawa, PhD

Assistant Professor

My research interest is in the structure-function relationship of molecular chaperones, folding enzymes and post-translational modifiers for collagen biosynthesis, quality control and trafficking. I have studied how collagens are biosynthesized in the rough endoplasmic reticulum (rER) since 2005 using various approaches from structural analysis to animal models and characterized the fundamental functions of over ten molecules involved in collagen biosynthesis. I created the term “molecular ensemble” to describe how collagen biosynthesis is organized and involves a large number of molecules in the rER. Type I collagen has been my research molecule and I now expand my interests to molecular ensemble for type IV collagen. My research goal is to investigate the molecular ensemble for all collagen types and individual cells/tissues.

Andrea Cozzitorto, PhD

Postdoctoral Fellow

I earned my BSc and MSc in Molecular Biotechnology from the University of Turin in Italy where I joined the laboratory of Prof. Valeria Poli at the Molecular Biotechnology Center (MBC). My thesis work mainly focused on the role of Signal Transducer and Activator of Transcription 3 (STAT3) in the biology of breast cancer stem cells. I rapidly became fascinated by the role of the tissue microenvironment during organogenesis and tumorigenesis. In particular, I am intrigued by the crosstalk between (stem) cells and their microenvironment and how it impacts on cell fate decision and identity maintenance during development. For this reason, I joined Francesca M. Spagnoli’s lab at the Max Delbrück Center for Molecular Medicine in Berlin (Germany) for my PhD. There, my thesis work focused on the epithelial-mesenchymal crosstalk during the pancreatic development in the mouse embryo. I then moved to the US to join the Gould lab as postdoctoral scholar and follow my passion for developmental biology and the extracellular matrix (ECM). My project aims to understand how COL4A1, the major component of the basement membrane (a specialized ECM) influences vascular and neural development. When not working I enjoy dancing, cooking and spending time with my family.

Xiaowei Wang, PhD

Postdoctoral Fellow

After earning BSc in biology at Hunan Normal University, I pursued PhD training in neuroscience in the University of Rochester under the co-mentorship of Dr. Maiken Nedergaard and Dr. Jason Huang. My passion in biology is to understand clinically relevant questions from both physiological and pathological viewpoints. For my thesis, I studied the physiological function of Na+-K+-Cl– cotransporter 1 (NKCC1) in buffering extracellular K+ in the white matter of the central nervous system (CNS). I also studied how NKCC1 might contribute to the posttraumatic seizure development. During my PhD training, I developed interest in solute removal from the CNS where conventional lymphatics are largely missing. I was especially interested in the ocular system, where CNS tissue directly faces peripheral challenges. Meanwhile, the anatomies of the retina and the optic nerve are magnitudes simpler than the brain, making them good model systems for understanding the CNS. I stayed as a postdoctoral fellow with Dr. Nedergaard, whose lab established the glymphatic system, an astrocyte-dependent perivascular fluid movement system, in the brain. My postdoctoral work in Dr. Nedergaard’s lab characterized the ocular glymphatic clearance system as well as its response to light stimulation and translaminar pressure. My work also demonstrated malfunction of the ocular glymphatic clearance system in mouse models of glaucoma, potentially opened new therapeutic revenue. I then joined Dr. Douglas Gould’s lab to study how type IV collagen in the neurovascular basement membrane is involved in neurodegenerative disease. My projects in the Gould lab aims to understand how age-dependent changes in extracellular matrix protein contribute to a loss of cerebrovascular myogenic tone and cognitive impairment.

Sean Gorman, BS

Research Specialist

I earned my BSc in Neuroscience from University College Dublin in Ireland. Here I trained in the Uni’s School of Biomolecular and Biomedical Science where I gained a keen interest in electrophysiology and molecular biology. My previous research project was carried out under the supervision of Associate Professor Caroline Herron. We used electrophysiological techniques to study the effects of cannabidiol on models of epileptiform activity in rodent hippocampal tissue. I recently joined the Gould Lab to provide general lab support and assist Dr. Dawiyat Massoudi. We’re working to elucidate the role of IRE1a in Retinitis Pigmentosa and investigate the cellular pathways involved in the folding/ secretion of COL4A1/A2 heterotrimers, with the goal of identifying therapeutics to combat such disorders arising from COL4A1/A2 mutations.

Carlie Abdala, BS

Research Specialist

An Angeleno at heart, I attended the University of California Los Angeles where I earned my BSc in Physiological Sciences. Within the Honors Collegium program, I completed my senior thesis under the supervision of Dr. Gina Poe on the relationship between sleep deprivation and implicit biases, with interrupted sleep conditions leading to disinhibition of these biases through a variety of interacting neurological pathways. Within my Disease Mechanisms and Therapies course, I became familiar with the etiology and pathology of various rare muscular dystrophies, which instilled within me a keen interest in translational genetics and the mutations of the extracellular matrix. In the Gould lab, I assist Associate Specialist Mao with cryosectioning tissues for immunostaining and handling mice to isolate primary cells. Under the mentorship of Associate Specialist Yoshi, I am using CRISPR/Cas9 gene editing to knockout molecules involved in collagen biosynthesis and quality control in the cells. When I am not working in the cell culture room, I enjoy indoor horticulture, rollerblading at Golden Gate, and watching movies with friends.

Megan Smith, BS

Research Associate

I earned my BSc in Biology from Georgetown University in Washington, DC, with a concentration in Biochemistry and Molecular Cell Biology. During my sophomore year, I became interested in genetics and molecular mechanisms of disease. This propelled me to begin my first research experience at the de Assis Lab at Georgetown’s Lombardi Cancer Center. There, I studied transgenerational epigenetic inheritance of disease risk from paternal obesity and paternal DDT-exposure under Dr. Sonia de Assis. Through the Research-Intensive Senior Experience (RISE) program, I worked on a senior thesis The placenta as a mediator of paternal DDT effects on epigentic inheritance of disease risk in offspring. I primarily studied differences in placenta morphology and used western blot and co-immunoprecipitation to investigate expression and interaction of epigenetic regulators. I joined the Gould lab to further explore genetic disease and was interested in the variability of symptoms that result from Col4a1 and Col4a2 mutations in patients and that we see in a mouse model. In the lab, I assist Dr. Xiaowei Weng in studying the effects of Col4a1 on blood-brain barrier integrity. I also work with Dr. Cassandre Labelle-Dumais towards investigating possible therapeutic targets for Col4a1/Col4a2 mutations.

Gerardo Medina

Administrative Assistant

Gerardo has an extensive background in administrative and operations support in the nonprofit sector including immigration, substance abuse, legal assistance and philanthropy. He is currently seeking his MFA in Consciousness and Writing at CIIS in San Francisco. His writing emphasis is in fairy tales and fables that are inspired through his observations in nature and with his practice in yoga and the fiber arts.