SusanEllenWaisbren

Summary

• I served as the psychologist for the Metabolism and Genetics Clinics at Boston Children’s Hospital for 40 years. Recently retired from clinical work, I continue to hold appointments at Harvard Medical School and Children’s Hospital. I mentor younger psychologists and medical fellows, consult on psychological issues related to health conditions and contribute to various research studies. In the past, my clinical work included neuropsychological evaluations in children and counseling of families after an abnormal newborn screening result. I dedicated my research career to the investigation of long-term outcomes in PKU and other metabolic and genetic disorders, primarily those detected through newborn screening. I conducted pioneer studies in newborn screening outcomes and parental response to expanded newborn screening, investigating the impact of true and false positive identifications in terms of parental stress and utilization of healthcare resources. I served as the coordinating psychologist for the Maternal PKU Collaborative Study and served as lead psychologist for the Longitudinal Study for the National Urea Cycle Disorders Consortium. I participated in the NICHD Vision Workshop on cognition and was a member of the NIH/NICHD Long-Term Outcomes working group on PKU. I was the founding director of the New England Consortium of Metabolic Programs for over 20 years. I authored more than 120 scientific publications and am working on a series of manuscripts about the psychological attributes of metabolic disorders. I also consult to pharmaceutical companies to assist in selecting and evaluating outcome measures for clinical trials in genetic disorders. In this role, I recognized the need for more sensitive measures to document positive changes associated with many of the new therapies. In particular, I am using AI to describe Deficits in Daily Discourse, a domain that seems sensitive to subtle changes in language associated with metabolic status.