Spinocerebellar ataxia

Epigenetics in Spinocerebellar Ataxia
2009 Seed Grant
Puneet Opal, M.D., Ph.D.
Northwestern University

Our lab is interested in understanding events that lead to chronic degenerative diseases that affect the brain. Currently we are studying a genetic disease that leads to cerebellar pathology called Spinocerebellar Ataxia Type 1. This disease is caused by a mutation in a gene that lead to an expansion of glutamines (an amino acid) in the protein encoded by this gene. One leading hypothesis is that the diseased protein leads to changes in gene expression that causes deleterious events. Our lab is trying to identify the mechanisms underlying these changes in gene expression so as to lead to future avenues of therapy. The BRF seed grant will be crucial in providing my lab with the funds to obtain more preliminary data to compete for R01 level funding from the NIH.

Other Grants

Lindsay M. De Biase, Ph.D., University of California Los Angeles
The role of microglial lysosomes in selective neuronal vulnerability
Synapses, the sites of signaling between neurons in the brain, play essential roles in learning, memory, and the health of neurons themselves. An enduring mystery is why some neurons are…
How the nervous system constructs internal models of the external world
As animals navigate their environments, they construct internal models of the external sensory world and use these models to guide their behavior. This ability to incorporate ongoing sensory stimuli into…
Xiaojing Gao, Ph.D., Stanford University
When Neural Circuits Meet Molecular Circuits: Quantitative Genetic Manipulation with Single-cell Consistency
Cells are the building blocks of our bodies. We get sick when the cells “misbehave”. The way modern gene therapies work is to introduce genes, fragments of DNA molecules that…
Rafiq Huda, Ph.D., Rutgers University
Conducting the orchestra of movement—functional role of striatal astrocytes in health and disease
Movement requires coordinated activity across a large brain-wide network. The striatum is a particularly important part of this circuit; it integrates motor-related information from many distinct brain regions to regulate…