Ústav molekulární genetiky AV ČR, v. v. i.
Supervisor
Martina Huranová
Project description
Cilia are thin surface structures present in most mammalian cells. Cilia accumulate multiple transmembrane receptors involved in signaling pathways important for the development and tissue homeostasis. For instance, cilia are crucial for the development and migration of neurons, the synaptic plasticity, and satiety management in the brain. Mutations in key ciliary genes in humans lead to cilia dysfunction manifesting as pleiotropic syndromes, collectively called ciliopathies. One of these rare recessive genetic diseases is Bardet-Biedl syndrome (BBS), characterized by diverse clinical symptoms such as obesity, renal dysfunction, retinal degeneration, polydactyly, and neurological disorder. The genetic cause of the BBS are mutations in the genes associated with the formation and function of an octameric ciliary adaptor complex called BBSome. The applicant will investigate the physiological role of primary cilia and the BBSome in the brain and molecular mechanisms associated with the pathophysiology in the BBS. The applicant will employ a multifaceted approach integrating model systems and experimental pipelines of a different scale and complexity. The applicant will work with specific ciliopathy mouse models and cell lines and gain expertise in the modern cell and molecular biology approaches including the in vivo experiments, transcriptome analysis and fluorescence microscopy. Finally, the applicant will utilize clinical data from ciliopathic patients, which will provide insights into ciliopathy pathologies.
Cilia team
We uncover mechanisms how cells employ their “antenna” called cilium to sense and respond to extracellular signals within our bodies. The failure of these mechanisms leads to severe diseases manifesting with obesity, neurodegeneration and dysfunction of multiple organs.
Candidate profile
We are looking for an ethusiastic and curious student with background in cell biology, molecular biology, biochemistry or a related field who is motivated to work on a project with biological and medicinal relevance. We offer a friendly and supporting environment, and excellent infrastructures at the Institute of Molecular Genetics. We are a young research group, where the students learn to lead a scientific project and accomplish the PhD studies within four to five years. We encourage the candidates to contact the supervisor directly (martina.huranova@img.cas.cz).
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