Personal profile
Research interests
Dr. Julie Eisengart is an Associate Professor in the Department of Pediatrics and the Director of the Neurodevelopmental Program in Rare Disease. As a pediatric neuropsychologist, she specializes in rare neurodegenerative disorders of childhood. Her research focuses on the changing relationships between brain structure, biochemical abnormalities, and brain function in rare disease, with the goal of predicting outcomes and improving supportive planning. She has been heavily involved in examining outcomes of early diagnosis, newborn screening, and/or novel therapies for rare disease (i.e. all phases of clinical trials). Her research extends to defining and measuring aspects of disease that are under-represented in the clinical and research communities but are important and meaningful to patients and their families, such as neurobehavioral symptoms and the caregiver lived experience.
A complete list of published work is available here:
https://www.ncbi.nlm.nih.gov/pubmed/?term=Julie+Eisengart
Research Interest Keywords
- lysosomal storage disorders
- mucopolysaccharidosis
- adrenoleukodystrophy
- neurocognitive endpoints
- neurocognitive decline
- IQ and developmental quotient
- biomarkers
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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SDG 4 Quality Education
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Collaborations and top research areas from the last five years
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Third Consensus Meeting on Neurocognitive and Functional Endpoints in MPS Clinical Studies
Eisengart, J. (PI)
UNIVERSITY OF ROCHESTER, NATIONAL INSTITUTES OF HEALTH (NIH)
8/1/25 → 7/31/26
Project: Research project
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Analysis of long-term somatic and functional outcomes of hematopoietic cell transplantation (HCT) for alpha-mannosidosis, with consideration of prospects for gene therapy
Eisengart, J. (PI), Lund, T. C. (CoI) & Yund, B. D. (CoI)
INTL SOCIETY FOR MANNOSIDOSIS & RELATED
9/1/23 → 8/31/26
Project: Research project
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Blood-Based Biomarkers for Sanfilippo Syndrome Progression and Treatment - Analysis of Gangliosides
Eisengart, J. (PI)
UNIVERSITY OF CALIFORNIA, LOS ANGELES, CURE SANFILIPPO FOUNDATION
9/3/21 → 9/2/23
Project: Research project
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Data on outcomes with allogenic haematopoietic stem cell transplants in Mucopolysaccharidosis type I
Orchard, P. J. (PI), Eisengart, J. (CoI), Lund, T. C. (CoI) & Miller, B. S. (CoI)
9/9/20 → 5/6/22
Project: Research project
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An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease
Whitley, C. B. (PI), Eisengart, J. (CoI), Jarnes, J. R. (CoI) & Miller, B. S. (CoI)
9/8/20 → 1/1/26
Project: Research project
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Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy
Pierpont, E. I., Gupta, A. O., Eisengart, J. B., Shanley, R., Evans, R. O., Loes, D. J., Nascene, D., Narayanan, S., Orchard, P. J. & Lund, T. C., Mar 1 2026, In: Brain. 149, 3, p. 1035-1042 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series
Pillai, N. R., Liu, N., Li, X., Li, X., Ahrens-Nicklas, R., Adang, L., Eisengart, J. B., Bronken, G., Gupta, A., Lund, T. C., Whitley, C. B., Elsea, S. H. & Orchard, P. J., Dec 2025, In: Communications Medicine. 5, 1, 12.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I
Svatkova, A., Pasternak, O., Eisengart, J. B., Rudser, K. D., Bednařík, P., Mueller, B. A., Delaney, K. A., Shapiro, E. G., Whitley, C. B. & Nestrašil, I., Jan 2025, In: Journal of Inherited Metabolic Disease. 48, 1, e12830.Research output: Contribution to journal › Article › peer-review
Open Access -
Longitudinal clinical and imaging analysis of hydrocephalus in a single-center study in 57 patients with mucopolysaccharidosis type IH (Hurler syndrome)
Huang, S., Nascene, D. R., Shanley, R., Choi, M., Lund, T. C., Gupta, A. O., Orchard, P. J., Eisengart, J., Guillaume, D. & Sandoval-Garcia, C., Aug 2025, In: Journal of Neurosurgery: Pediatrics. 36, 2, p. 157-164 8 p.Research output: Contribution to journal › Article › peer-review
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Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis
Šáhó, R., Formánková, R., Eisengart, J. B., Lund, A. M., Videbaek, C., Gürbüz, B. B., Özbek, N. Y., Al Jasmi, F., Ješina, P., Feillet, F., Pochon, C., Guémann, A. S., AlSayed, M., Laktina, S., Uçar, S. K., Aksoylar, S., Lund, T. C., Orchard, P. J., Eminoğlu, F. T. & İleri, T. & 8 others, , Jul 2025, In: Journal of Inherited Metabolic Disease. 48, 4, e70047.Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Scopus citations