Projects per year
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. Our work contributes towards the following SDG(s):
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Dive into the research topics where Pediatric Genetics & Metabolism is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Susan A Berry, Professor
- Pediatric Genetics & Metabolism - Professor
- Ophthalmology & Visual Neurosciences - Professor
Person: Faculty, Medical School Affiliates
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A Phase 1, Open-label, Ascending Dose Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Recombinant Human Heparan N-Sulfatase (rhHNS, GC1130A) Via Intracerebroventricular Access Device in Patients with
Whitley, C. B. (PI)
2/1/25 → 1/31/35
Project: Research project
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A Phase 1/2, Single Dose, Dose Escalation Study of Intravenous AAV5-GLA (AMT-191) in Adult Males with Classic Fabry Disease
Whitley, C. B. (PI)
1/10/25 → 3/31/35
Project: Research project
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GenoKrabbe: A Comprehensive Genotype-Phenotype Database for Krabbe Disease
Orchard, P. J. (PI), Gupta, A. O. (CoI), Pillai, N. (CoI), Braun, J. A. (Other Role) & Shanley, R. M. (Other Role)
ROSENAU FAMILY RESEARCH FOUNDATION
11/1/24 → 10/31/27
Project: Research project
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Addressing the Multisystemic Impacts of Nephropathic Cystinosis in an Adult
Jarnes, J. R., Palmer, R. S. & Whitley, C. B., Mar 2025, In: Kidney International Reports. 10, 3, p. S789-S793Research output: Contribution to journal › Article › peer-review
Open Access -
An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure
Bannister, M., Bray, S., Aggarwal, A., Billington, C. & Nguyen, H. D., Jan 9 2025, In: Human Genetics and Genomics Advances. 6, 1, 100386.Research output: Contribution to journal › Article › peer-review
Open Access -
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
University of Washington Center for Mendelian Genomics (UW-CMG), C4RCD Research Group & Telethon Undiagnosed Disease Program (TUDP), Mar 2025, In: European Journal of Human Genetics. 33, 3, p. 312-324 13 p., 103969.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations
Activities
- 1 Types of Award - Prize (including medals and awards)
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Doctoral Dissertation Fellowship
Ou, L. (Recipient)
Sep 2015 → Aug 2016Activity: Other activity types › Types of Award - Prize (including medals and awards)
Prizes
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American Society of Gene and Cell Therapy Travel Award
Ou, L. (Recipient), May 2016
Prize: Prize (including medals and awards)
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Baosteel Fellowship for Excellent Students
Ou, L. (Recipient), 2009
Prize: Prize (including medals and awards)
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NIH Lysosomal Disease Network Fellow
Ou, L. (Recipient), 2015
Prize: Prize (including medals and awards)