This September marks the 60th anniversary of Newborn Screening (NBS), a landmark achievement that the US Centers for Disease Control and Prevention (CDC) considers one of the ten greatest public health achievements worldwide.
Today, newborns in all 50 states are screened within the first few days of life for a panel of 34 rare conditions. Infants born with one of these potentially life-threatening diseases often appear healthy at birth. Newborn screening rapidly identifies babies at risk so that they can receive potentially life-saving treatment.
PNRI is proud to pursue genetic research that will help expand the number of rare diseases that can be screened in newborns. Two of PNRI’s talented scientists, Dr. Cláudia Carvalho and Dr. Aimée Dudley, are conducting pioneering research into the genetic causes of rare, inherited diseases, leading to new and more precise ways to identify infants at the greatest risk.
“We want to bring attention to the need to expand the panels to match the fast-evolving genomic research. Genetic research will only benefit the population affected by rare diseases by expanding newborn screening programs that include the latest discoveries from personalized medicine research.”
Cláudia Carvalho, PhD
Assistant Investigator
The pace of genetic discovery has expanded the ability to diagnose more of the rare, inherited diseases that threaten the lives of newborns. And yet, the pace of adding new diseases to the NBS program is lagging. According to Dr. Carvalho, “During Newborn Screening Awareness Month, we want to bring attention to the need to expand the panels to match the fast-evolving genomic research. Genetic research will only benefit the population affected by rare diseases by expanding newborn screening programs that include the latest discoveries from personalized medicine research.”
These genetic discoveries enable faster and more precise diagnosis of those infants at the greatest risk of life-threatening illness. The work done in the laboratory of Dr. Dudley is expanding the tools to screen infants for a wider number of inherited diseases than ever before.
“Our work is helping advance efforts to use genome sequencing to expand the number of serious but treatable disorders that can be detected in newborns.”
Aimée Dudley, PhD
Senior Investigator
According to Dr. Dudley, “Several inherited metabolic diseases are not included in the NBS panels because tests for these diseases are not compatible with the current (biochemical) screening platforms. Our lab at PNRI performs large-scale functional assays of genetic variants in the genes that cause these diseases. Our work is helping advance efforts to use genome sequencing to expand the number of serious but treatable disorders that can be detected in newborns.”
While we celebrate the monumental achievement of NBS, we also call for the expansion of the diseases screened by the panels so that the pioneering genetic research from labs like those of Drs. Carvalho and Dudley is available to physicians and families.
Want to learn more about Dr. Dudley’s work to identify genetic variants that cause rare diseases in newborns and how her work saves lives? Join us on October 20th for our event, Bold Breakthroughs, to get a front-row seat to this exciting conversation. Tickets are going fast—we hope to see you there!