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Gabe is an MD/PhD student at the University of Iowa who joined the Mahajan lab in 2016. Gabe received his bachelor’s degree in molecular biology from Winona State University in 2014. Gabe is studying the structure of the calpain-5 (CAPN5) protein and its role in the development of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV), a rare blinding eye disease. His research interests include translational proteomics, structural biology, biophysical chemistry, enzymology, drug design, molecular modeling, and bioinformatics. He was awarded an NIH F30 grant in 2017 and defended his Ph.D. in 2020.
Graduate Research Assistant
The eye is an immune-privileged site that is particularly prone to autoinflammatory uveitis. Most causes of uveitis are unknown, thereby delaying treatment and allowing ocular inflammation to progress unabated. Mutations in the cysteine protease calpain-5 (CAPN5) cause autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV), a rare form of nonsyndromic uveitis. ADNIV patients develop ocular inflammation, retinal degeneration and neovascularization, and intraocular fibrosis starting in the second decade of life, culminating in blindness in their fifties. ADNIV mutations lead to the production of an overactive protease. To date, there are no calpain inhibitors specific to calpain-5 and its structure and function are poorly understood. Determining the structure of calpain-5 is critical to developing precise therapies for ADNIV. The Mahajan lab utilizes a variety of structural, enzymatic, and proteomics techniques to uncover the structure and regulatory mechanisms of this poorly understood molecule. This work is supported by an F30 training grant from the National Eye Institute (1F30EYE027986-01A1)
Palo Alto, CA
Proteomics is the culmination of advances in chemistry, physics, bioinformatics, and molecular biology that allow the study of thousands of proteins simultaneously. A proteome can be defined as the complete set of proteins expressed in a particular cell or tissue of interest. This strategy is especially important in eye diseases where there are limited cell and animal models. We are using proteomics to discover biomarkers, therapeutic targets, and molecular pathways involved in several eye diseases where diagnosis is difficult and current treatment is inadequate.
With the rapidly-reducing costs of whole genome and exome sequencing, clinical genomic testing is being increasingly applied in the identification of pathogenic disease variants in patients. New sequence variants are often identified, but many are classified as variants of uncertain significance (VUS) due to the lack of functional assays to study their effects. Computational structural modeling of protein structures can provide information at the atomic level and help to predict the pathogenicity of novel mutations by placing variants of uncertain significance in the context of the patient’s disease, pathophysiology, and protein function. Our team collaborates with clinicians and researchers around the world to model novel disease variants and better understand their patients’ disease.
Iowa City, IA