Listen in as PNRI’s Dr. Aimée Dudley talks with Kira Dineen, host of DNA Today, an award-winning radio show and podcast that educates the public on genetics and public health topics.
In this episode, PNRI Senior Investigator Dr. Aimée Dudley joins Dr. Andrea Gropman, Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital, and Tresa Warner, a parent of a child living with OTC deficiency and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, to discuss a novel genetic screening tool that offers hope to babies born with ornithine transcarbamylase deficiency (OTC deficiency), a life-threatening metabolic disorder.
OTC deficiency causes ammonia to accumulate to toxic levels in the blood and brain. Infants born with the severest forms of this disease rapidly develop life-threatening symptoms.
Dr. Dudley and her team recently developed a new technology that can provide physicians with the information they need to rapidly diagnose and treat these patients. The team collaborated with Dr. Gropman and other clinicians at Children’s National Hospital to develop a powerful set of scientific tools that allows them to predict whether a change in the genetic sequence of a specific gene is likely to cause disease.
“We have the technology, we have the awesome power of yeast genetics, we have the ability to sequence and verify all of these yeast constructs, to use robotics, and do this on a really large scale, but what we rarely have the opportunity to do is to work so closely with clinicians and disease experts to be able to see how well our functional assays are relating to what’s seen in human patients, and that’s where this collaboration has been so spectacular,” said Dr. Dudley.
Now that Dr. Dudley and her team have shown that the technology can produce accurate results for OTC deficiency, they are applying it to other rare metabolic diseases. They hope to make this type of data available for more rare diseases.
Tune into this lively and informative conversation as they discuss what it’s like for families living with OTC deficiency, the limits of current diagnostic methods and treatments, and the lifesaving impact this new genetic screening tool offers families facing a diagnosis of OTC deficiency.