Development of Reference Ranges for Additional Newborn Screening Markers for
Early Detection of the Homocystinurias: Classical Homocystinuria and Remethylation Disorders
Principal Investigator: Devinder Kaur, PhD
August 31, 2022
HCU Network America announced the recipient of their first newborn screening research grant. The New England Newborn Screening Program, an initiative of UMass Chan Medical School’s Commonwealth Medicine division, received the award to explore the development of reference ranges for additional newborn screening markers for the early detection of classical homocystinuria and remethylation disorders. The research, led by Devinder Kaur, Ph.D., assistant professor of pediatrics at UMass Chan, aims to establish normal reference ranges for total homocysteine, along with other analytes collected by healthy newborns during the 24-48 newborn screening period. This will support the development of algorithms that will incorporate information on a variety of other variables in the future. Dr. Kaur, who is leading the research, joined the New England Newborn Screening Program in 2017 as a senior scientist.
Dr. Kaur, who is leading the research says “I am extremely honored and happy to receive this grant from HCU Network America, as this builds on our previous and current work to improve and expand screening methods for the homocystinurias using tandem mass spectrometry with the ultimate goal to help prevent treatable disorders through early detection. This project will leverage the New England Newborn Screening Program’s technical and clinical expertise along with the UMass Chan infrastructure that provides access to screening for a wide variety of disorders; by identifying markers, developing assays, and by generating data, algorithms, and protocols that could be adopted nationwide in screening for medically relevant conditions. On behalf of the New England Newborn Screening team, I would like to express my sincere gratitude to HCU Network America for their generous support”.
Dr. Harvey Levy, a newborn screening pioneer and HCU Network America board member said, “We are pleased to fund this grant to develop reference ranges for analytes measured in newborn screening that are markers for the homocystinurias and remethylation disorders, which will further support the adoption of two-tier testing to improve the sensitivity of newborn screening and enable these infants to be diagnosed at birth and given the best chance of leading healthy and productive lives”.
About Devinder Kaur, Ph.D.
Dr. Kaur is an assistant professor in the department of pediatrics at the UMass Chan Medical School. She received her master’s and PhD from the Post Graduate Institute of Medical Education and Research, Chandigarh, India. She was a Research Scientist at the Colorado state University, Fort Collins, Colorado where she used an integrated approach of biochemistry, bioinformatics, and genetics to decipher biosynthetic pathways of the mycobacterial cell wall with a view to new drug development and vaccine candidates for the treatment of tuberculosis. At Massachusetts Supranational TB Lab, she led activities ranging from providing technical assistance and technology transfer to developing countries, designing and implementing quality assurance systems, and drug potency testing, as well as practical and didactic training in diagnostic methods and quality assurance. She also participated in several operational research projects with academic research institutions and molecular diagnostic companies to identify mechanisms of drug resistance and to validate new diagnostic tests. She authored and co-authored articles in peer-reviewed journals, on basic and operational research in the area of infectious diseases and newborn screening.
Dr. Kaur joined the New England Newborn Screening Program (NENSP) in 2017 as a senior scientist. She has served several roles and made strong contributions to various scientific and administrative operations of the program including the validation and implementation of a new Laboratory Information Management System, the program’s short-term follow-up responsibilities, optimization and implementation of a Covid antibody assay for a special collaborative epidemiological project and to the day-to-day clinical laboratory QC and troubleshooting activities of the metabolic laboratory. She is now leading the design, development, and validation of improved and new mass spectrometry-based assays.