Author

Georgia MacDonald

Icahn School of Medicine at Mount Sinai

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Organism:human· 1 Assay:metabolomics· 1 Assay:proteomics· 1

Frequent Co-Authors

Éva MoravaiD· 2 shared Rory James TinkeriD· 2 shared Tamás KozicziD· 2 shared Akhilesh PandeyiD· 1 shared Benjamin S Glicksberg· 1 shared Daniel R. SchecteriD· 1 shared Douglas Smith· 1 shared Ethan O. PerlsteiniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Éva MoravaORCID

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2 papers

Recent·Most cited

ArchSpiral: An iPad-Based Digital Archimedean Spiral Assessment for Objective Motor Evaluation in Rare Diseases

Daniel R. Schecter, Rory James Tinker, Matteo Danieletto, Georgia MacDonald, Tamás Kozicz, Éva Morava, Benjamin S Glicksberg

ArchSpiral is an iPad app that digitizes a motor assessment task, showing strong agreement with paper-based scores and providing quantitative metrics for rare disease research.

medRxiv · Jul 30, 2026 · PreprintGenetic & Genomic Medicine

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

Irena Josephina Johanna Muffels, Kristin A. Kantautas, Georgia MacDonald, Kishore Garapati, Raghavendra Rao Pasupuleti, Rory James Tinker, Rameen Shah, Mathura A. Thevandavakkam, Justin Donnelly, Ron Hrtska, Douglas Smith, Jan Bert van Klinken, Frédéric Maxime Vaz, Akhilesh Pandey, Ethan O. Perlstein, , Éva Morava

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

medRxiv · Jun 5, 2026 · PreprintGenetic & Genomic Medicine