Our Clinical neurogenetics research group is focused on the investigation of the genetic background of a number of neurological disorders. Patients with disorders like Parkinson disease, dystonia, ataxia, hereditary causes of dementia or stroke, are examined at the Department for Neurology, Skåne University Hospital, within research studies and their potential contributing or causative genetic factors are elucidated. The aim of our research is to identify new gene mutations that cause these diseases and to understand how gene mutations affect cellular mechanisms.
At present, we can offer the following project for a bioinformatics masters student:
We performed genetic testing on 12 samples from patients with frontotemporal dementia and Whole Genome Sequencing (WGS) data from these patients are available for analysis. The overall aim of this project is to investigate the data for potential genetic variations that can cause this disorder, as for example Single Nucleotide Variants (SNVs) and Short Tandem Repeats (STRs).
Applicants:
MSc bioinformatics students with an interest in neurogenetics are very welcome to apply. Familiarity with Bash, Python and Linux is a requirement. Recommended project length is 15cr (10 weeks).
Supervisors:
Efthymia Kafantari (MSc in bioinformatics and in medical genetics), Department for Neurology, Skåne University Hospital and Clinical Neurogenetics, Lund University (primary supervisor)
Joel Wallenius (MSc in bioinformatics), Department for Neurology, Skåne University Hospital and Clinical Neurogenetics, Lund University
Andreas Puschmann (neurologist, professor), Department for Neurology, Skåne University Hospital and Clinical Neurogenetics, Lund University
Contact:
Efthymia Kafantari efthymia.kafantari@med.lu.se
Joel Wallenius joel.wallenius@skane.se
Andreas Puschmann andreas.puschmann@med.lu.se