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Master Thesis - Munich, Deutschland - Helmholtz Zentrum München

Helmholtz Zentrum München

Geprüftes Unternehmen

Munich, Deutschland

vor 1 Monat

Geschrieben von:

Lena Wagner

beBee Recruiter

Beschreibung

A heterozygous mutation in the PURA gene can cause the neurodevelopmental disorder PURA Syndrome. First described in 2014, today there are over 478 diagnosed cases worldwide and the number is constantly increasing. The PURA protein is expressed in every human tissue.

Apart from already published detailed structural data, very little is known about the underlying mechanisms that lead to the severe symptoms of PURA Syndrome including neurodevelopmental delay, intellectual disability, hypotonia, and epilepsy.

We at the Institute of Structural Biology at the Helmholtz Center Munich study the structure and cellular function of the PURA protein.

Thus, we are trying to understand the molecular consequences of a PURA deficiency in PURA Syndrome patients. We use genetically modified immortalized cell lines and patient specific induced pluripotent stem cells (iPSCs).

High-throughput techniques in these cells already gave us first ideas about PURA's interactome and in which pathways PURA may play a role.

These data needs further validation to identify specific molecular mechanisms that cause the severe disorder previously described. Ultimately, we want to provide information that can lead to the development of treatment strategies for PURA Syndrome patients.

Interested? Join us on this crucial and challenging task for your master thesis or contact us if you want to be part of this as an intern.

What to expect?