About the Akizu Lab

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The goal of the Akizu Lab's research program is to understand how neuronal diversity is generated in healthy brains and lost in neurological disorders.

Back in the 19th century, Ramon y Cajal beautifully documented the presence of morphologically diverse types of nerve cells in the nervous system. Since then, neurons have been classified in types and subtypes based on their shape, position, neurotransmitter activity, synaptic target, or gene expression profile. The integration of all these parameters ultimately determines the identity and function of each neuronal type and lead to the vast cellular diversity that build up the complex human brain.

Cellular diversity in the brain is achieved during the development by the control of gene expression in response to cell-cell interactions and extracellular cues. However, several stimuli can alter diversity by selectively compromising development, function, or survival of specific neurons, both pre- or postnatally. This is best illustrated by neurodegenerative disorders that deal with selective neuronal loss, such as Parkinson’s disease or amyotrophic lateral sclerosis.

In an effort to understand how genes and genetic regulation control human brain diversity in health and disease, the Akizu Lab studies mechanisms that perturb specific neuronal type generation, function, or survival in neurodevelopmental genetic diseases. These are often caused by mutations in widely expressed genes, and yet, mostly affect specific type of neurons.

The team works with mouse models and human stem cell-derived cultures, and applies DNA/RNA sequencing, proteomics, metabolomics and imaging methods to gain insights into functional and molecular differences between resistant and vulnerable cells.

This approach holds the promise to uncover molecular and functional features of specific neural types and to link them with selective neuronal vulnerabilities to imbalances that occur in neurological diseases.

Learn more about our research.

Supporters

The Akizu Lab's work is supported by:

  • The National Ataxia Foundation
  • The National Institute of Neurological Disorders and Stroke K99/R00 Pathway to Independence Award