The Dudley lab at the Pacific Northwest Research Institute was able to buy a new freezer and storage racks (photos 1-4) with a grant from NUCDF. The equipment will be used for research to improve the genetic diagnosis of urea cycle disorders. Photos 5 and 6 show freezers already in use.
A grant from the National Urea Cycle Disorders Foundation to the Pacific Northwest Research Institute in June is already hard at work in the lab of Aimée Dudley, Ph.D. The nearly $20,000 gift funded the purchase of a freezer and racks for storage of yeast strains related to ongoing research into the significance of urea cycle disorder (UCD) variants. The goal of the research is to improve accuracy of UCD diagnosis.
“Yeast strains generated in our research are stored (indefinitely) in ultracold (-80° C) freezers that must be outfitted with stainless steel racks to hold the plates in which the yeast cells reside,” says Dudley. “Storing these strains for future use allows the lab to perform new experiments quickly and easily on variants in the urea cycle genes. These experiments may involve gathering new types of information (such as protein stability or enzymatic activity) or generating and testing the effect of a combination of variants found in a patient.”
The Dudley lab requested support because both of its existing freezers were at capacity. More space was needed to store the new strains harboring variants in five urea cycle disorder genes, including OTC (ornithine transcarbamylase deficiency), ASS1 (citrullinemia), ASL (arginosuccinate lyase deficency), ARG1 (arginase defiency), and SLC25A15 (hyperornithinemia-hyperammonemia-homocitrullinuria syndrome or HHH syndrome).
“We are thrilled to support the groundbreaking work happening in the Dudley lab,” says Tresa Warner, president and executive director of NUCDF. “Dr. Dudley is working to shed light on 'variants of uncertain significance'—genetic changes that may or may not cause disease—and help the medical community interpret often confusing and unhelpful genetic testing results.”
Dr. Dudley shared photos of the equipment at work with a thank you note: “We would like to thank the NUCDF community,” she says. “The freezer and racks that we purchased with the generous funds from NUCDF have arrived, and just in the nick of time too. In photos 5 and 6, you can see one of our current freezers, packed to the gills with valuable yeast strains that we have generated. These include strains harboring variants of human OTC, ASS1, and ASL. Photos 1-3 show the new freezer (before we plugged it in) and the boxes of racks (photo 4) that will house the strains for new experiments with other urea cycle genes, including ARG1 and SLC25A15.”
Dr. Dudley presented about her reseach at the at the 2024 NUCDF Family Conference. Watch her presentation here or read more about her research.
The National Urea Cycle Disorders Foundation (NUCDF) is the driving force behind efforts to speed diagnosis, improve treatments, and find a cure for urea cycle disorders. The nonprofit organization also serve as a lifeline to patients, families, and medical professionals worldwide seeking information, support, and hope. Contact NUCDF at info@nucdf.org.
