FOR IMMEDIATE RELEASE
ROANOKE, Va., — National PKU Alliance (NPKUA) announced today that it has acquired the BioPKU database, a widely used scientific resource containing anonymized genetic information from individuals with phenylketonuria (PKU). Originally developed by Professor Nenad Blau, PhD, BioPKU is one of the most comprehensive databases of PKU genotypes and associated phenotypes used by clinicians, researchers and industry.
The database contains more than 23,000 entries, providing critical information on disease classification, average blood phenylalanine (Phe) ranges associated with variant combinations, BH4 responsiveness, location of variants on the phenylalanine hydroxylase molecule, variant prevalence and classification of disease severity. As part of this acquisition, the BH4 and neurotransmitter databases will also remain publicly accessible, ensuring continued availability of these important clinical resources.
“BioPKU has long been an essential resource for understanding the genetic complexity of PKU,” said Catherine Warren, Executive Director of the National PKU Alliance. “We are honored to carry forward Dr. Blau’s work and ensure this database remains available to support research and improve care for people with PKU.”
The information in this database helps researchers and clinicians better understand how specific genetic variants influence disease severity and treatment response, supporting more precise diagnosis and care.
“By acquiring the BioPKU database, the largest collection of genotypes and associated phenotypes of patients with PKU, NPKUA has secured continued access to this invaluable resource for clinicians and researchers, enabling its continued use in everyday clinical practice and research,” said Uta Lichter-Konecki, MD, PhD, member of the NPKUA Scientific Advisory Board.
NPKUA plans to expand the database and ensure that it continues to evolve as new variants and clinical insights are discovered.
About National PKU Alliance (NPKUA)
National PKU Alliance (NPKUA) is the only national organization based in the United States dedicated solely to supporting individuals and families affected by phenylketonuria (PKU). NPKUA’s mission is to improve the lives of individuals with PKU, pursue a cure by expanding research and provide education and support to individuals living with PKU and their caregivers. To learn more about NPKUA, please visit www.npkua.org.