Clinical Bioinformatics Infrastructure
MultiPark supports up to 50% of a clinical bioinformatician, for projects within the aims of MultiPark.
The bioinformatician works with bioinformatic analyses of genetic data from high throughput genetic sequencing from patients and families with Parkinson disease, dementia, other movement disorders and cerebrovascular disorders. Tasks/expertise include the identification of disease-associated genetic variants in families and in case series and comparison with international genetic databases. Sequence alterations, copy number variants and short tandem repeats in human DNA can be detected.
A typical research question can be to screen datasets from a number of patients for potentially disease-causing variants, or to compare variants between affected and unaffected members of one family in order to identify a genetic variant that co-segregates with the disease.
Such work leads to the identification of patients with (rarer) monogenetic forms of neurodegenerative and other neurological disorders. These rare patients may then be included in other research, or biomaterial may be collected for experimental studies (outside of this infrastructure).
This infrastructure forms a collaboration with Region Skåne.
MD, Associate professor
Email: Andreas [dot] Puschmann [at] med [dot] lu [dot] se
MSc (medical genetics), MSc (bioinformatics)
Email: Efthymia [dot] Kafantari [at] med [dot] lu [dot] se