Projects per year
Personal profile
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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Collaborations and top research areas from the last five years
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Advanced Therapies Rare Genetic Disease Fellowship
Jarnes, J. R. (PI) & Whitley, C. B. (CoI)
7/1/24 → 6/30/25
Project: Research project
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Long-Term Follow-up of Fabry Disease Subjects who have Undergone IV Infusion with ST-920, an rAAV2/6 Human Alpha Galactosidase A Gene Therapy
Whitley, C. B. (PI), Diethelm-Okita, B. M. (CoI), Jarnes, J. R. (CoI) & Miller, B. S. (CoI)
12/4/23 → 11/30/30
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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Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease
Whitley, C. B. (PI), Jarnes, J. R. (CoI) & Karachunski, P. I. (CoI)
6/1/20 → 10/1/21
Project: Research project
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Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
Májovská, J., Nestrašil, I., Ahmed, A., Bondy, M. T., Klempíř, J., Jahnová, H., Schneider, S. A., Horáková, D., Krásenský, J., Ješina, P., Vaneckova, M., Nascene, D. R., Whitley, C. B., Jarnes, J. R., Magner, M. & Dušek, P., Mar 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 327-339 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat
Bingaman, A., Waggoner, C., Andrews, S. M., Pangonis, D., Trad, M., Giugliani, R., Giorgino, R., Jarnes, J., Vakili, R., Ballard, V. & Peay, H. L., Feb 2023, In: American Journal of Medical Genetics, Part A. 191, 2, p. 408-423 16 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system
Kim, S., Przybilla, M. J., Whitley, C. B., Ou, L., Al-Kofahi, M. & Jarnes, J. R., Dec 2022, In: Molecular Genetics and Metabolism Reports. 33, 100917.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Physiologically-Based Pharmacokinetic Model Development, Validation, and Application for Prediction of Eliglustat Drug–Drug Interactions
Sahasrabudhe, S. A., Cheng, S., Al-Kofahi, M., Jarnes, J. R., Weinreb, N. J. & Kartha, R. V., Dec 2022, In: Clinical pharmacology and therapeutics. 112, 6, p. 1254-1263 10 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
WORLDSymposiumTM 2022⁎: 18th Annual Research Meeting, Scientific Sessions
Organizing Committee, Feb 2022, In: Molecular Genetics and Metabolism. 135, 2, p. S1Research output: Contribution to journal › Article › peer-review