Current Environment:

Research Overview

Dr. Susan Waisbren's research interests include long-term outcomes in metabolic and other genetic disorders. She has conducted 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.

Current Research

  1. Neuroimaging in Metabolic Disorders: In collaboration with neurologists and experts in MRI Spectroscopy, Dr. Waisbren is investigating the underlying pathology in phenylketonuria (PKU), Galactosemia, and Urea Cycle Disorders. Through innovative imaging techniques in combination with neuropsychological evaluations, the research team aims to clarify the reasons for diverse outcomes in these metabolic disorders.

  2. Longitudinal Study in Urea Cycle Disorders: This large collaborative study prospectively collects information on children and adults with Urea Cycle Disorders. Currently in its 12th year, the study includes a sample of over 600 individuals who receive multiple neuropsychological and other evaluations so that the long-term outcome in relation to varied treatment modalities can be better understood.

  3. Clinical Trials: Dr. Waisbren and her large team of research assistants are involved in potentially disease-altering clinical trials for PKU, Urea Cycle Disorders, Lysosomal Storage Diseases, Niemann-Pick Disease, and fatty-acid oxidation disorders.

Research Background

Dr. Waisbren received her undergraduate training at Yale University in New Haven, Connecticut and her doctorate in Clinical Psychology from the University of California, Berkeley in 1978. She serves as the psychologist for the Metabolism and Genetics Clinics at Boston Children’s Hospital, a position she has held for 39 years. Her clinical work includes neuropsychological evaluations in children with metabolic and other genetic disorders and counseling of families after an abnormal newborn screening result. She served as the coordinating psychologist for the national Maternal PKU Collaborative Study and is the lead psychologist for the Longitudinal Study for the National Urea Cycle Disorders Consortium. Dr. Waisbren served as the director of the National Work Group on Transition to Adult Health Care. She is founding director of the New England Consortium of Metabolic Programs.

Selected Publications

Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003; 290(19):2564-72.

Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. The Adult Galactosemic Phenotype. J Inherit Metab Dis. 2012; 35(2):279-86.

Waisbren S, Rohr F, Anastasoaie V, Brown M, Harris D, Ozonoff A, Petrides S, Wessel A, Levy H. Maternal phenylketonuria: long-term outcomes in offspring and post-pregnancy maternal characteristics. JIMD Rep. 2015; 21:23-33.

Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015; 17(6):501-4.

Publications