ALS, Dementia, Glaucoma: A Genetic Link


Erik M. Ullian, PhD, is a UCSF neurobiologist and principal investigator seeking to understand the genetic mechanisms underlying neurodegenerative diseases (the degeneration or death of nerve cells, causing debilitating conditions).

Dr. Ullian first became interested in this area through studies indicating a mysterious genetic link connecting a specific group of genes to both glaucoma and the neurodegenerative diseases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Strangely, some cases showed the loss of function of a specific gene is implicated in ALS but the gain of function of the same gene is implicated in glaucoma. This suggests that the genes may have different relative functional roles in some cell types, or that some cell types have different sensitivities to the functions of these genes.

Utilizing novel Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) approaches, Dr. Ullian seeks to understand how this group of genes function in both the central nervous system and in the retina – and why their dysfunction can lead to cell death. Understanding this could unravel the mystery of these genetic cell-type susceptibilities that can lead to either ALS or glaucoma or, in some cases, both.

In addition, Dr. Ullian has developed complex 3D models showing a remarkable ability to reproduce many of the hallmarks of neurodegeneration currently missing from animal models. The hope is to use these models as a platform for drug screening, finding new therapeutic strategies to target disease. This approach is attracting the attention of industry, inspiring speedy drug discovery to bona fide treatments.