News from PNRI
All year round the talented scientists here at PNRI are focused on our mission to improve human health. Taking genetic research from the laboratory bench to a patient’s bedside can be a long journey, which is why it has been particularly thrilling this year to share that the Dudley Lab at PNRI has developed a new technology that is having a positive impact right now!
A new genetic screening tool developed by the Dudley Lab is revolutionizing the speed and accuracy with which physicians can diagnose urea cycle disorders in infants. These inherited metabolic diseases cause toxic levels of ammonia to build up in the body, potentially leading to severe debilitation or even death if not detected immediately after birth.
Dr. Dudley and her lab members have made faster diagnosis possible with a unique tool that classifies genetic variations to give physicians a reliable reference for which variations are harmless, and which cause disease. This is an incredible breakthrough that is saving the lives of affected newborns.
“It’s bittersweet to learn of Dr. Dudley’s research. I’m excited for the families who will gain swift genetic diagnoses because of her technology, but I do wish I had had this twenty years ago when my daughter was diagnosed. There’s so much pain that could’ve been avoided. I know that Dr. Dudley’s research will change lives.”
Tresa Warner
President, NUCDF
Tresa Warner is the President of the National Urea Cycle Disorders Foundation (NUCDF) and the parent of a child with a urea cycle disorder. She recently toured the Dudley Lab and met with the researchers that developed this cutting-edge technology.
“It’s bittersweet to learn of Dr. Dudley’s research. I’m excited for the families who will gain swift genetic diagnoses because of her technology, but I do wish I had had this twenty years ago when my daughter was diagnosed. There’s so much pain that could’ve been avoided. I know that Dr. Dudley’s research will change lives,” said Tresa.
Now that the Dudley Lab’s technology has been proven to provide the precise information necessary to diagnose and treat infants at risk of a urea cycle disorder, there is a growing sense of urgency to further develop its use for infants who are vulnerable to myriad other inherited metabolic diseases.
The only barrier to saving the lives of these children is the funding to scale the technology to apply to other diseases. Dr. Dudley knows it is possible. She and her team are ready to adapt their discovery to classify genetic variations that cause a host of other metabolic disorders, and expand the reach of this lifesaving innovation. All that’s needed is the financial resources to make it happen.
Funding this technology is an amazing opportunity to have a direct impact on the lives of children and families when they need it most. Two PNRI donors are so impressed by the advancements happening in the Dudley Lab that they are matching end-of-year donations up to $20,000!
This support will further the work in all of our innovative laboratories, and multiply the possibilities for what our research can accomplish in the future. This holiday season, we invite you donate to PNRI and play a vital role in ensuring that our most promising discoveries and technologies reach patients at their most critical times.
Thank you for powering our groundbreaking genetic research.