NUCDF Highlights Dudley Lab Breakthrough in Urea Cycle Disorder Research

The National Urea Cycle Disorders Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool for urea cycle disorder in their article: Yeast genetics collaboration yields hope for improved diagnosis of urea cycle disorders. 

Dr. Aimée Dudley and her team have made tremendous strides using yeast genetics to pinpoint the impact of thousands of variants of a gene responsible for the most common urea cycle disorder (UCD) ornithine transcarbamylase (OTC) deficiency. 

Urea cycle disorders arise from small genetic changes in eight key genes, leading to enzyme deficiencies that can be severe enough to cause brain damage, coma, and death. The Dudley Lab’s research not only accelerates diagnosis but may also pave the way for personalized treatments, improving patient outcomes. 

The method, known as mutational scanning, has allowed the Dudley Lab to analyze 1,570 human OTC variants, ranking them by severity and comparing results with patient experiences. Dr. Dudley’s unique method involves genetically modifying yeast cells to mirror human variants, offering a faster and more cost-effective alternative to traditional approaches. This innovative approach aims to demystify “variants of uncertain significance” that often complicate genetic testing, providing clarity for medical professionals and leading to swift diagnosis. 

A New Day for Urea Cycle Disorder Diagnosis

Tresa Warner, President of the National Urea Cycle Disorders Foundation, expressed her excitement, stating, “If we had this technology 20 years ago when my daughter was diagnosed with OTC, we could have avoided so much pain…This research will change lives.” 

What’s even more promising is the potential application of this technique to study other urea cycle disorders and rare diseases, offering hope for quicker, more accurate diagnoses. 

For a deeper dive into this exciting development, check out the full NUCDF article here.