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.
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.
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.
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.
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.
I had worked as an undergraduate researcher in Dr. Michael Zaragoza’s lab at the University of California, Irvine where my project was to understand changes in RNA expression as a result of mitochondrial ADP/ATP channel (Ant1/2) knockout in a cardiomyopathy mouse model. After graduating, I worked as a research assistant at the University of California, San Francisco in Dr. Wilson Liao’s lab identifying novel SNPs associated with psoriasis, a dermatological disease and testing their effects in vitro. My interest in biomedical research and lead me to pursue a Ph.D. in genetics at the University of California, Davis where I was mentored by Dr. Gino Cortopassi. My thesis focused on understanding the involvement of oxidative stress in the pathomechanism of Friedreich’s ataxia, a neurodegenerative mitochondrial disease. During this time, I also identified multiple biomarkers in patient-derived lymphocytes that can be utilized to quantify the effectiveness of therapeutics in Friedreich’s patients. Additionally, I characterized the effects of Dimethyl Fumarate a drug with anti-inflammatory and cytoprotective properties on mitochondrial biogenic. Continuing my interest in biomedical research, I join the Gould lab as a postdoctoral scholar. My current research focus is to elucidate the pathogenic mechanisms by which COL4A1 mutations causes cerebrovascular disease and identify potential therapeutic interventions.
While earning my BSc in Biology at Millersville University of Pennsylvania, I began my research career in the lab of Dr. Judith Cebra-Thomas determining that the development of the turtle plastron is a product of two waves of neural crest cells (NCCs), first a wave of trunk NCCs followed by another wave of trunk NCCs that have more cranial-like characteristics. I obtained my PhD in Exercise Physiology from West Virginia University under the mentorship of Dr. Paul Chantler. My lab was heavily focused on vascular biology and the dysfunction caused by the comorbidity of metabolic syndrome and chronic stress. As these two disorders have pathological commonalities leading to disruption of nitric oxide production, I examined the efficacy of exercise, a known NO booster, to attenuate vascular dysfunction in the microvasculature. During my PhD, my fascination with vascular pathophysiology increased thus directing me towards accepting a postdoctoral position in Dr. Rong Wang’s lab at UCSF where I began characterizing a preclinical mouse model of hereditary hemorrhagic telangiectasia. After working with Dr. Wang for a year, I moved to Dr. Gould’s lab as a postdoctoral scholar. My project in Dr. Gould’s lab involves determining cell-specific contributions to cerebral small vessel disease in the context of Col4a1 mutations and test whether drugs that target angiogenic signaling pathways may be useful therapeutics for these pathologies.
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.
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.
Bryson Lee, BS
After graduating from Wesleyan University with a dual degree in Biology and Economics, I have been working in the Gould Lab since June 2018 as a Staff Research Associate. Before working in the Gould Lab, I worked as a volunteer researcher in the Sneddon Lab at UCSF where I studied pancreatic development and type I diabetes in order to find a cure for type I diabetes through cell replacement therapy. I also conducted research at Wesleyan University under Dr. Laura Grabel, where I studied the differentiation of embryonic stem cells into GABAergic inhibitory interneuron progenitors in vitro and transplanted them into epileptic mice in order to find out if they have the potential to cure temporal lobe epilepsy. When not providing general support for the laboratory organization, I provide research support for Postdocs Genki Hayashi and Kayla Branyan. We are working to understand cerebrovascular disease caused by Col4a1 mutations with the goal of better understanding the molecular mechanisms that underlie the disease, and the ways to mitigate their effects.
I recently graduated from Colgate University with a Bachelor of Arts in cellular neuroscience and have been working in the Gould laboratory since the fall of 2019. I am currently working towards becoming an MD-PHD and hope to begin a dual-degree program in the Fall of 2021. My interest in biomedical research began while working on my undergraduate senior thesis, where I investigated the ameliorative effects of an antidepressant on a mouse model of multiple sclerosis. In the Gould lab, I assist Postdoc Andrea Cozzitorto in examining the effects of COL4A1 mutations on embryonic development and am also collaborating with Associate Specialist Yoshi Ishikawa on a project investigating the influence of therapeutic interventions on COL4A1 secretion and basement membrane cross-linking in mutant mice. When I am not working, I enjoy singing, dancing, and playing tennis.
Richard Li, BS
Born in China and raised in Canada, I obtained my bachelor’s degree in bio-organic chemistry with a minor in business from McGill University, Montreal. During this time, I was able to work for the department of chemistry to design and refine experiments for our undergraduate lab courses. From this experience I developed my techniques for experimental design and created several experiments that were incorporated into the university course curriculum. I also competed in the Dobson Cup, a business case competition, where my business strategy for a wearable wrist sensor for Alzheimer patients came second place in the bio-technology stream. After graduating, I was fortune enough to work as a science consultant at Anomera Inc. As a material science business that focused on using nano-cellulose to replace plastic microbeads in the cosmetic industry, I was tasked with designing and carrying out experimental procedures independently in a team environment to synthesize and characterize bio-organic compounds. By spanning both chemistry and biology in this job, I realized my affinity for life science research. Currently, I provide general support in the Gould Lab such as PCR, mouse colony maintenance and general lab management. I am also assisting Postdoc XiaoWei Wang conduct her research. When not working I enjoy music, cooking, books that focus on world building, and the sci-fi dystopian genre.
Sean Gorman, BS
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.
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.
Former Lab Members
|Position in the lab||Present position|
|Marielle Young||Resident||Faculty at University of Utah (USA)|
|Bradeley Pawlikowski||Postdoctoral Fellow||University of Colorado, Boulder (USA)|
|David Dilworth||Postdoctoral Fellow||Institute for Systems Biology, Seattle (USA)|
|Yichinn Weng||Postdoctoral Fellow||Senior Research Scientist, Kent State|
|Xiaoyang Bai||Postdoctoral Fellow|
|Marion Jeanne||Postdoctoral Fellow||Scientist, Genentech|
|Marcel Alavi||Postdoctoral Fellow|
|Meredith Protas||Associate Specialist|
|Berkeley Kauffman||Staff Research Associate||Tulane University, New Orleans (USA)|
|Jennifer Allen||Staff Research Associate|
|Jeff Jorgensen||Staff Research Associate||BMCB program at Cornell (USA)|
|Tanav Popli||Staff Research Associate||Indiana University School of Medicine (USA)|
|Kendall Hoff||Staff Research Associate|
|Michelle de Leau||Medical Student||University of Amsterdam (The Netherlands)|
|Debbie Kuo||Medical Student||Resident UCSF (USA)|
|Suzanne van Straaten||Medical Student||University of Amsterdam (The Netherlands)|
|Tim Bronkhorst||Medical Student||University of Amsterdam (The Netherlands)|
|David Lyons||Rotation Student||Tetrad Program, UCSF (USA)|
|Emily Harrington||Rotation Student||MSTP Student, UCSF (USA)|
|Stephanie Parker||Rotation Student||BMS program, UCSF (USA)|
|Jasper Burke||Summer Student||Barnard College, New York (USA)|