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
Primary Supervisor Email Number Webpage
Dr. Ben Gu +61 3 9035 6317
Co-supervisor Email Number Webpage
Dr. Xin Huang +61 3 9035 7432
Laureate Prof. Colin Masters +61 3 9035 6575

Summary Using whole genomic sequencing and cell sorting to search for possible somatic mutations in patients with Alzheimer's disease.

Project Details

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

Neuroscience & Psychiatry, Ageing

Research Opportunities

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

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.


Medicine and Radiology

Research Node

Florey Institute of Neuroscience & Mental Health

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