Humphrey Lab

Genetics of Neurodegeneration

Projects


Transcriptomic analysis of ALS/FTD postmortem tissues


As members of the New York Genome Center ALS Consortium, we have full access to all tissue RNA-seq and whole genome sequencing, and have applied it to multiple projects.


Novel technologies


We apply cutting-edge genomics to understand neurodegeneration, including long-read, single-cell and spatial approaches.


Functional Genomics


By integrating genetic variants with molecular phenotypes, we can uncover new risk genes for disease and identify the causal mechanisms. We've applied this to postmortem spinal cord tissue in ALS, and microglia in Alzheimer's and Parkinson's disease.


RNA biology


We are contributors to Leafcutter, the highly-used software tool for computational analysis of mRNA splicing. We also maintain the accompanying visualization tool Leafviz.