Biology Education

Department of Biology | Lund University

Thesis project in Neurogenetics at the Faculty of Medicine

Supervisors
Maria Swanberg, Senior Lecturer in Translational Neuroscience Kajsa Atterling Brolin, Postdoctoral Fellow

Placement
Translational Neurogenetics Unit, Wallenberg Neuroscience Center, BMC, Lund
https://portal.research.lu.se/en/organisations/translational-neurogenetics

Project description
Parkinson’s disease (PD) is a neurodegenerative disorder affecting over six million people worldwide. It is characterized by a progressive loss of dopaminergic neurons in the
substantia nigra, resulting in motor symptoms such as slowness of movements (bradykinesia), rigidity, and tremor. Also, less visible symptoms such as cognitive impairment and sleep problems are prevalent. There are no treatments to stop the progression of the disease and medications available as of today can only partly treat the symptoms.

It is not fully understood why some individuals develop PD as the etiology – the cause(s) of the disease – is complex and involves a combination of genetic and non-genetic factors, such as environmental and lifestyle factors. The genetic contributors to PD exist across a
continuum, ranging from causal and highly penetrant genetic variants (mutations) causing monogenic PD, to common variants with small effect sizes associated with an increased
disease risk. Known monogenic variants explain only a fraction of the observed PD in
families and known common risk variants explain only up to 36% of the heritable PD risk in the population. This means that a considerable large part of the genetic component in PD
remains unknown.

In this project, we aim to further investigate the genetic contributors to PD risk and
progression by investigating genetic data from individuals with and without PD using various bioinformatic methods. We work closely with large international projects on PD genetics to facilitate learning, collaborations and to increase the availability of data for the project.
Overall, this project will contribute to the understanding of PD and can help pave the way for development of predictive, preventative, and new therapeutic approaches in PD.

Applicants
We welcome students with an interest in genetics, bioinformatics and neurodegenerative disease. It’s an advantage, but not a prerequisite, if the intended student has prior
experience with coding and bioinformatics. Recommended project length is 45-60 ECTS.

For more information, contact the project supervisors at:

maria.swanberg@med.lu.se

kajsa.atterling_brolin@med.lu.se

April 4, 2024

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Bioinformatics Molecular Biology