Principal Investigator
​​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.​​
Administrative Assistant
Sinead received her bachelor’s degree in microbiology and minor in Chemistry at California State University Long Beach. Prior to joining SBP, she worked in an organic chemistry research lab and a diagnostics company. For any questions on upcoming events Rare Disease Day or the Sanford Children’s Health Research Center Scientific Symposium, donating to the lab, or visiting the lab please contact​.
Postdoctoral Associate
Sonal obtained her Ph.D. in 2019 from CSIR-Institute of Microbial Technology, Chandigarh, India, where she worked on bacterial fucolectins and alginate lyases. Sonal joined as a Postdoctoral Fellow in the Marth laboratory at the Sanford Burnham Prebys in 2019 where she studied the O-Glycosylation modifications linked to CD8+ T cell apoptosis. In 2021, she joined the Freeze lab and started investigating a new type of CDG caused by a defect in Golgi mannosidase, MAN2A2. Currently, she is working on Saul-Wilson Syndrome, a rare skeletal dysplasia caused by a specific heterozygous mutation in the COG4 gene. She also performs Cell-based growth complementation assays for screening of CAD variants to identify CAD-deficient individuals who could benefit from uridine therapy. Overall, she is interested in investigating the molecular basis of various CDGs and seeking potential treatments for patients in the future.
Lab Assistant
Jamie completed her BSc in applied biology at Rose-Hulman Institute of Technology. She joined the lab in 2010 as an intern and is now a research assistant. Jamie is an author on the paper Mannose Alters Gut Microbiome, Prevents Diet Induced Obesity, and Improves Host Metabolism by Sharma et al and has been acknowledged in several other publications from the lab. Her 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.