Dr. Christopher Gomez (Principal Investigator)
As a physician and scientist, I have dedicated my career to the understanding and treatment of ataxia, both in the clinic and in the laboratory.
In the clinic, in addition to treating symptoms and helping patients cope and adapt to their ataxia, I have been working to learn the best ways to measure the severity of the balance and coordination problems experienced by patients with ataxia. This is very important because it will allow us to more easily test whether any newly developed drugs help symptoms or slow progression of ataxia. If successful we expect that we will entice more pharmaceutical companies to enter the field of ataxia therapy, and thus speed the development of new drugs.
In the lab our goal is to discover how mutations in ataxia genes cause SCA6 or other forms of ataxia, and to develop ways to block the effects of the gene mutations that cause SCA6. We have discovered a new protein, α1ACT, hidden in the SCA6 gene sequence that we believe is the cause of SCA6. We have decoded how this protein is turned on and are developing ways to safely turn it off, first in animal models and eventually in patients.
Dr. Xiaofei Du (Research Associate Professor)
I received my basic biology and medical training in China and came to Chicago to further pursue my interest in genetically inheritable diseases. I have a research interest in the field of neurodegenerative disorders, especially in elucidating the connection between genetic mutation and the development of neuron degeneration. My long-term goal is to understand the pathogenic mechanisms that underlie the development of spinocerebellar ataxia and eventually to develop new therapies.
I have a research background in molecular and cellular pathogenesis of endocrine syndromes. My previous fellowship and research training in genetic diseases and in the regulation of gene expression provide me with the expertise to pursue my current and future research. I also had a postdoctoral training in studying the molecular genetics of Triple A syndrome and the signal transduction pathways that link regulation of testosterone production and fat stores. After publication of this work as it related to hyperandrogenic disorders, I moved my research focus to cerebellar development and mechanisms of neurodegenerative disease, where there is similar interplay between transcription factors bearing polyglutamine tracts, development and neurodegeneration.
I have discovered that CACNA1A gene, encoding a calcium channel subunit, employs a novel strategy to directly coordinate a gene expression program, and plays a newly recognized role in regulating cerebellar neuronal cell development. I also found that the second gene product of CACNA1A, α1ACT, promotes PCs morphology and cerebellum development by directly binding and regulating target genes. In the current multi-disciplinary and highly interactive environment of the field of neurodegenerative disease research, I have mastered a variety of state-of-the-art molecular biological techniques, such as protein isolation, small molecular library screening, stem cell development, next generation sequencing and system bioinformatics, as well as mouse phenotyping and electrophysiology. This knowledge, coupled with my previous training, will provide an ideal foundation on which I can build a unique and independent line of research towards a better understanding of calcium channel disorders and the pathological mechanism for neurodegenerative disease.
Dr. Russell Taylor (Post-Doctoral Scholar)
I received my bachelor’s degree in Genetics and Cell Development from the University of Minnesota, and then spent five years working as a technician and lab manager in Seattle, WA. Following that, I received my PhD in Neuroscience from the University of Wisconsin, Madison. My work there revolved around neuronal migration and accompanying morphological changes in the developing mouse brain. I moved to Chicago and joined the Gomez lab in summer of 2021, and am working on CACNA1C and its complicated secondary protein products. My free time is pretty much entirely consumed by my four year old, but I try to find some time to myself for ultimate frisbee.
Dr. Eshaan Rao (Post-Doctoral Researcher)
I am originally from Minneapolis, Minnesota, where I attended the University of Minnesota and earned a B.S. in Neuroscience and Chemistry. I am interested in neurological diseases and developing genetic-based therapies to try and combat such diseases. I have studied chronic pain, Alzheimer’s disease, medulloblastoma, and hyperoxia in the past, and currently focus on a calcium channel implicated in certain types of spinocerebellar ataxia. In my free time, I enjoy playing basketball, playing the violin, and cultivating mass.
Tyler Thaxton (PhD Student)
I grew up in Canton, Ohio and attended (THE) Ohio State University where I earned a B.S. in Neuroscience and Psychology. I then moved to Chicago to work as a lab technician at Northwestern University and matriculated at University of Chicago soon after. My previous research experience includes studies on rehabilitation after spinal cord injury, the inflammatory microenvironment after spinal cord injury, and investigating therapeutics for epilepsy and Dravet Syndrome. I started working in the lab in 2020 with my focus mainly on calcium channelopathies. In my free time I enjoy playing board games, reading, and cooking.
Cenfu Wei (Senior Research Technician)
I did my BS degree of Biotechnology in East China University of Science and Technology in Shanghai China. I came to US in 2012 and did my MS degree of Molecular Biology in Illinois Institute of Technology.
I officially joined Dr. Gomez’s lab as a research assistant right after I graduated from IIT. In the first several years, I primarily contributed to two major projects. One was investigating how α1ACT, a transcription factor generated by the bicistronic mRNA of a voltage gated Ca2+ channel (VGCC) gene cacna1a, regulates cerebellar development (X. Du, C. Wei, et al., Neuron). The other was focusing on a de novo mutation in the KCNMA1 gene that leads to depolarization and depletion of mitochondria (X. DU, J.L.C, C. WEI, et al., PNAS). My current research concentrates on investigating the pathogenesis of SCAs caused by polyglutamine (polyQ) expansion and loss function mutations in Cav2.1, which is encoded by cacna1a.
In the course of my involvement in these projects and our use of bioinformatics analytics, I became interested in informatics techniques. Thus, in 2016, I enrolled in the master’s program in Biomedical Informatics at the University of Chicago which I completed in my off-work time. This program provided me with an opportunity to practice in industry, so I did a capstone project at the Blue Health Intelligence (BHI). In this project, I developed SAS and R codes for database cleaning, merging and query of millions of insurance records, in order to measure the low value cares in the records.
Eric Gama (Research Technician)
I am a recent graduate from the University of Illinois at Urbana-Champaign. I studied Molecular and Cellular biology and did most of my undergraduate research in crop sciences. I am interested in the potential of gene manipulation in developing solutions to issues such as malnutrition, food insecurity and, now, human disease. Switching from crop sciences to neurology was an important step in tailoring my experiences for the medical field, adding behavior measures and clinical relevance to my research experience. I would also like to see how similar concepts overlap in finding solutions to improving human health, whether it be disease or food availability.
Jessica Markman (Undergraduate Researcher)
I am a second-year undergraduate student at The University of Chicago double majoring in Neuroscience and Creative Writing. I am very excited to join the lab this year and become more involved in research! Generally, I most enjoy studying neurological diseases and neurodevelopmental disorders. Outside of research and classes, I love to write for my school’s science magazine, The Triple Helix, and mentor kids in a variety of subjects. Additionally, I am a director of both Hearts Over Hands and UChicago’s Supplies for Dreams, which are two community service organizations focused on aiding kid’s academic pursuits and social interactions.
Maddie Kelly (Undergraduate Researcher)
I am a second year undergraduate student at UChicago, studying Neuroscience. I joined the lab in spring of 2020. Currently, I am working on a project that aims to study the function of the secondary protein products of the CACNA1C gene. I am from Minneapolis, Minnesota, so Chicago is not that different (although the winters are tamer). I am also on the Cross Country and Track and Field teams at UChicago. In my free time I enjoy reading, baking and playing sports. Very excited to work in the Gomez Lab!
Charlotte Clulow (Undergraduate Researcher)
I am a first-year undergraduate at the University of Chicago currently studying neuroscience on the pre-med track. I grew up in Northwest Connecticut, but am currently living in the Bay Area, California – both very different from Chicago, but I’m slowly getting used to it! Currently, I am working alongside the lab assisting in the research regarding the protein products that emerge from the CACNA1C gene. This unites both molecular level and behavioral studies, which is helpful in governing my decisions for the field I want to go into in the future. Outside of the lab, I’m in an a capella group on campus, and enjoy running, cooking, and road trips (whenever I’m not living at the library!).
Conner Hartman (Undergraduate Researcher)
I am a first-year undergraduate student at UChicago majoring in Neuroscience and Biology on the pre-med track. I grew up in Canton, Massachusetts, just south of Boston. As of now, I really enjoy learning about and studying neurodegenerative diseases. In my free time, I am the creative director for my A Cappella group on campus called The Ransom Notes. We tour the country, compete in the ICCA (yes, the competition from Pitch Perfect), and perform on and off campus. I also love swimming, roller coasters, and eating a ton of food