Somatic mutations in Alzheimer's disease
- Research Opportunity
- PhD, Masters by Research, Honours, Master of Biomedical Science, Post Doctor Research
- Number of Honour Places Available
- Number of Master Places Available
- Medicine and Radiology
- Florey Institute of Neuroscience & Mental Health
|Dr. Ben Gufirstname.lastname@example.org||+61 3 9035 6317|
|Dr. Xin Huangemail@example.com||+61 3 9035 7432|
|Laureate Prof. Colin Mastersfirstname.lastname@example.org||+61 3 9035 6575|
Summary Using whole genomic sequencing and cell sorting to search for possible somatic mutations in patients with Alzheimer's disease.
We seek to identify the underlying cause of Aβ-amyloid accumulation in late onset Alzheimer's disease (LOAD), which may be attributable to accumulation of somatic mutations in replicative cells of monocyte/microglial lineages. Our research supports this hypothesis, showing a perturbation in basal and stimulated innate phagocytosis in monocytes in LOAD (Gu, Huang et al. 2016). The current study proposes that cumulative somatic DNA mutations occur randomly in hematopoietic stem cells, which are then passed along to peripheral monocytes through their normal replication cycles. During the aging process, these mutations accumulate, and over time, increase in number within critical GWAS-hit genes to an extent where the monocytes become defective in innate phagocytosis responsible for Aβ clearance.
This project aims to provide students with the opportunities to gain expertise in genomic analysis, cell sorting, study design, management and reporting.
GENERIC SKILLS involved in this project:
Students are expected to develop skills in:
- developing creative ways of solving unfamiliar problems by devising a methodological approach to address the research question being raised;
- managing the time allocated to completing specific tasks;
- communicating the results in written form, requiring critical analysis, synthesis and organisation of knowledge, and the construction of a rational and lucid scientific argument.
SPECIAL SKILLS involved in this project
- multi-colour fluorescence flow cytometry and single cell sorting and sequencing technology;
- bioinformatics addresses the specific needs in data acquisition, storage, analysis and integration;
- genomic analysis toolkits including but not limited to GATK4/Mutect2, snpEff/snpSift and IGV.
Faculty Research Themes
School Research Themes
PhD, Masters by Research, Honours, Master of Biomedical Science, Post Doctor Research
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research
For further information about this research, please contact a supervisor.
Research NodeFlorey Institute of Neuroscience & Mental Health
MDHS Research library
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