Inozyme highlights inclusion of GACI in Genomics England’s Generation Study

Inozyme Pharma highlighted the inclusion of Generalized Arterial Calcification of Infancy, which is caused by mutations in the ENPP1 or ABCC6 genes, in the Genomic England’s Generation Study. This research initiative, embedded within the UK’s National Health Service, was developed to advance early detection and treatment of rare genetic conditions, with the goal of setting a new standard for newborn screening programs. “We commend Genomics England for recognizing the crucial importance of early detection of GACI as we advance INZ-701 into clinical trials in infants. Including ENPP1 and ABCC6 in the initial list of genes selected for this groundbreaking study represents the hard work and dedication of the advocates, families, and healthcare professionals who work tirelessly for those living with this disease,” said Catherine Nester, R.N., Inozyme’s senior vice president of healthcare professionals and patient engagement. “The Generation Study has the potential to make a significant impact on the creation of more comprehensive newborn screening programs that save lives by empowering families to find appropriate care for their babies as quickly as possible.” The Generation Study is scheduled to begin in late 2023, with the goal of sequencing the genomes of more than 100,000 infants and paving the way for potential widespread implementation of whole-genome sequencing in newborn screening. Genomics England collaborated with NHS experts as well as scientists, healthcare professionals, and people living with rare conditions to select 223 individual conditions for its current screening program.