Dr. Susan Berry, principal investigator of the PKU Patient Registry, recently shared valuable information with hundreds of clinicians and researchers at the 14th International Congress of Inborn Errors of Metabolism (ICIEM) 2021. She was invited to speak about the development and initial data of the NPKUA’s PKU Patient Registry in a presentation titled “Design and Outcome of Rare Disease Registries in PKU.” The Registry Network’s collective voice reached individuals from more than 70 countries.
The PKU Patient Registry is fortunate to have Dr. Berry’s expertise guiding the Registry efforts over the last year and a half. Dr. Berry is a nationally recognized geneticist and expert in inborn errors of metabolism at the University of Minnesota and serves on the NPKUA Board of Directors. She also has an extensive professional background in rare disease registries as the leader of the NIH-funded Urea Cycle Disorders Consortium Longitudinal Study and the NIH and HRSA-funded Inborn Errors of Metabolism Collaborative. She is a Founding Fellow of the American College of Medical Genetics and Genomics, president-elect for the Society for Inherited Metabolic Disorders, and co-chair of the Steering Committee for the Newborn Screening Translational Research Network.
Dr. Berry’s research focuses on long-term follow-up for newborn-screened conditions, like PKU. She is passionate about providing and improving care for adults and families living with inborn errors of metabolism.
Dr. Berry shared: “I am so pleased to have the opportunity to serve the PKU community through membership on the NPKUA Board of Directors and particularly happy to support the PKU Patient Registry. There is so much power in knowledge shared for the benefit of all engaged. From the beginning of screening for PKU in the early 1950s until now, we have certainly owed it to the PKU community to have a better understanding of outcomes, particularly to improve care and support patients and their families. I'm grateful for the contributions of every single participant in the Registry and hope we can make this an increasingly effective and useful tool to advance PKU care.”