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):
-
SDG 3 Good Health and Well-being -
SDG 9 Industry, Innovation, and Infrastructure
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
Advanced Therapies Rare Genetic Disease Fellowship
Jarnes, J. R. (PI)
7/1/25 → 6/30/26
Project: Research project
-
A Post-Authorization Safety Study (PASS) to Assess Long-term Safety in Patients with Pompe Disease Treated with Avalglucosidase alfa in the Real-World Setting: the SAVANT (Safety assessment of AValglucosidase Alfa as a Novel Treatment) study
Jarnes, J. R. (PI) & Pillai, N. (Prior Principal Investigator)
7/24/24 → 9/9/35
Project: Research project
-
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
-
-
Advanced Therapies Rare Genetic Disease Fellowship
Jarnes, J. R. (PI) & Whitley, C. B. (CoI)
7/1/24 → 6/30/25
Project: Research project
-
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Casazza, K., Giugliani, R., Regier, D. S. & Jarnes, J., Jan 2026, In: Journal of Inherited Metabolic Disease. 49, 1, e70134.Research output: Contribution to journal › Review article › peer-review
Open Access -
Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders
Casazza, K., Kimonis, V., Whitley, C. B. & Jarnes, J. R., Jun 2026, In: Molecular Genetics and Metabolism. 148, 2, 110129.Research output: Contribution to journal › Review article › peer-review
-
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 -
Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment
Casazza, K., Cologna, S. M., Berry-Kravis, E., Jarnes, J. & Porter, F. D., Sep 2025, In: Journal of Inherited Metabolic Disease. 48, 5, e70075.Research output: Contribution to journal › Review article › peer-review
Open Access -
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
Brown, C. G., Bower, M., Schomaker, M., Goldstein, J., Jarnes, J., Whitley, C. B. & Pillai, N. R., Jul 2025, In: American Journal of Medical Genetics, Part A. 197, 7, e64012.Research output: Contribution to journal › Article › peer-review