SUPR
Transcriptomic and single cell analysis across ALS-causative mutations
Dnr:

NAISS 2024/22-204

Type:

NAISS Small Compute

Principal Investigator:

Irene Mei

Affiliation:

Stockholms universitet

Start Date:

2024-02-06

End Date:

2025-03-01

Primary Classification:

30105: Neurosciences

Webpage:

Allocation

Abstract

Amyotrophic lateral sclerosis (ALS) is a lethal disease that is characterized by progressive degeneration of motor neurons that innervate muscle. Mutations in several genes have been found to result in ALS, but a large proportion of cases has no known direct genetic cause. We aim to investigate the pathways underlying motor neuron degeneration by differentiating human induced pluripotent stem cells (iPSC) carrying a variety of ALS-causative mutations into motor neurons. Single cells sequencing is performed on these cultures. Hereby we aim to elucidate transcriptomic changes occuring in motor neurons carrying ALS-mutations, but also adaptive changes in non-motor neurons that are not affected in the disease.