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Genetic Disorders & Aging
Centers and Labs
Sanford Children's Health Research Center
CURRENT LAB MEMBERS
Lab Member Name
Hudson H. Freeze, Ph.D.
Dr. Freeze is driven by the search for novel therapeutics to treat patients with mutations leading to glycosylation defects called Congenital Disorders of Glycosylation or CDGs. We invite you to learn about the children with CDGs, read their stories, and meet the researchers seeking treatments for their disorders.
Research Assistant and Lab Manager
Over the past fourteen years I have worked very closely with more than two hundred and fifty CDG families as well as their physicians in order to better understand the natural history of this complex disorder. In addition to my roles as clinical coordinator and lab manager, I have also been involved in identifying novel CDG types which have helped us to better understand the biology of these disorders. I have been involved in utilizing technologies like whole exome and whole genome sequencing to solve many of those cases that have thus far remained unsolved. While I have published many papers on CDG, I believe my greatest impact and contribution has been providing answers to families.
Paulina completed her B.Sc. degree in Biotechnology and earned her M.Sc. in Biotechnology of Proteins and Peptides from the University of Wroclaw, Poland studying biology of nucleotide sugar transporters. For her Ph.D. thesis she continued her work at the same university, focusing her research on determining function of two orphan nucleotide sugar transporters. In 2018 she joined the Freeze Lab, where she studies glycan-associated metabolism of fucose. She also aims to understand the function of pathogenic variants in UDP-galactose transporter in SLC35A2-CDG and intractable neocortical epilepsy. She is interested in the dietary supplementation with monosaccharides as a therapy for CDGs.
Zhijie completed her B.Sc. in Biotechnology and Ph.D. in Microbiology from Shandong University and started vesicular transport and protein trafficking study in the Subramani lab at UCSD, where she investigated the molecular mechanism of peroxisomal vesicular transport and peroxisomal biogenesis disorders caused by the deficiency of a novel ubiquitin ligase, TRIM37. Zhijie joined the Freeze lab in 2017 and has been working on a new type of CDG, Saul-Wilson Syndrome. Her research work determined a specific heterozygous mutation in the COG4 gene as the molecular basis of this rare disorder and discovered the associated intracellular disturbance and glycosylation defects. With her expertise in cell biology, now Zhijie focuses on unraveling the perturbed signaling pathways and selective glycoprotein secretion defects caused by the specific mutation in COG4 utilizing zebrafish and distinct cell models with the goal of paving the way for developing future therapeutic means.
My name is Jamie. I've lived in San Diego all my life except when I attended Rose Hulman Institute of Technology in Indiana. I joined the Freeze Lab in 2010 as an intern and now I'm a Lab Assistant II. I am an author on the paper
Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism
by Sharma et al and have been acknowledged in several other publications from the lab. My favorite parts about working in the lab are the people in the lab and that our lab has a close relationship with the patients' families, which allows us to see the impact of our research.
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