Causal Genetic Variation and Transcriptomic Signatures of the Peripheral Immune System in the Central Nervous System Pathology of ALS That Are Conserved or Divergent Among ALS Patients and the Animal Models

Home / Research Grants / Funded Research Projects / Research Project

In Progress



Grant Year

ANF Development Grant

Grant Type

Mai Yamakawa, MD




Project Summary

Dr. Yamakawa’s team will build a rigorous data-driven model that describes the role of natural killer cells (NK cells) in amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD), including their cell surface regulators, target cells and predicted molecular drivers. This work will be the bases for future research, performing human-relevant functional validation in cellular and animal models. Dr. Yamakawa explained, “With novel technology of single-cell RNA sequencing of postmortem brain samples, we have higher resolution for pathophysiology in ALS brains. My research will contribute to a new insight into neuroinflammation as a therapeutic target in ALS, and how it is similar or different from the animal model.” 

Dr. Yamakawa’s goal is to characterize neuroinflammation in brain and spinal cord samples from ALS patients, as neuroinflammation is an increasingly attractive therapeutic target with recent exponential discoveries in cancer immunotherapy. Additionally, she aims to systematically describe the difference in neuroinflammation in ALS patients and the most widely used SOD1 mutant mice, as this discrepancy could hinder further drug discovery and repurposing for immunotherapies. Following completion of the research, Dr. Yamakawa will present her findings at an AANEM Annual Meeting.
“I would like to thank the AANEM/ ANF community for giving me with this funding opportunity, as this funding is vital for my career development in translational research for ALS.”
Help Support Research

Your donation to the ANF goes 100% to funding research.

Donate Now