Award

The role of somatic mutation in neurodegenerative disease

Description: The aim of this proposal is to characterize multiple forms of somatic mutations in Alzheimer’s Disease and Ataxia-Telangiectasia, two neurodegenerative disorders that do not have effective treatments, by using single-cell genomic analysis. This project will not only enable a better understanding of the role of somatic mutations in Alzheimer’s Disease and Ataxia-Telangiectasia but also provide a framework for single-cell genomic analysis that can be applied to other neurodevelopmental and neurodegenerative diseases.
Funding type: career_development
Funder scheme: K01
Start date: 2016-08-01
End date: 2021-04-30
Investigator: EUNJUNG ALICE LEE
Institution: BOSTON CHILDREN'S HOSPITAL
Funded outputs count: 26
Funder award ID: K01AG051791
OpenAlex ID: G5181568931
2025 · Liviu Aron, Zhen Kai Ngian, et al. · Nature · 132
2024 · Eduardo A. Maury, Attila Jones, et al. · Science · 22
2022 · Michael B. Miller, August Yue Huang, et al. · Nature · 222
2022 · Eduardo A. Maury, Attila Jones, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4
2021 · Javier Ganz, Eduardo A. Maury, et al. · Cancer Discovery · 49
2021 · Rebeca Borges-Monroy, Chong Chu, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4
2020 · Junho Kim, Boxun Zhao, et al. · Nature · 19
2020 · Chong Chu, Boxun Zhao, et al. · Current Protocols in Human Genetics · 14
2020 · August Yue Huang, Pengpeng Li, et al. · Proceedings of the National Academy of Sciences · 54
2020 · Bernardo Rodriguez-Martin, Eva G. Alvarez, et al. · Nature Genetics · 451
2018 · Hyunchul Jung, Jung Kyoon Choi, et al. · Genome Research · 63
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