Precision genomic profiling in Gaucher disease: insights from atypical presentations
The presence of concurrent genetic disorders in a subset of GD patients has the potential to modify clinical presentation, impact disease trajectory, and introduce additional complexities in clinical management. This study contributes to advancing precision medicine strategies that aim to optimize patient outcomes. Future research into genetic and epigenetic modifiers of GD will further refine this framework and enhance individualized therapeutic approaches.
Authors
- Dhanpat Jain (ORCID: https://orcid.org/0000-0003-3845-0798)
- Jiapeng Ruan (ORCID: https://orcid.org/0000-0001-7569-7031)
- Nigel S. Bamford (ORCID: https://orcid.org/0000-0003-3375-1022)
- Noor Ul Ain (ORCID: https://orcid.org/0000-0003-3097-2997)
- Shiny Nair (ORCID: https://orcid.org/0000-0002-4081-7811)
- Pramod K. Mistry (ORCID: https://orcid.org/0000-0003-3447-6421)
- Maniya Kasaiyan
- Sameet Mehta (ORCID: https://orcid.org/0000-0002-3029-3217)
- Armaan Saith
- Gary Israel
Institutions
- Yale University (US)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-06
- DOI
- https://doi.org/10.3389/fgene.2025.1553036
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi
- Yale University