NGS Database Infrastructure
MultiPark supports whole exome sequencing (WES) of larger number of patients with Parkinson disease and whole genome sequencing (WGS) of patients and families with frontotemporal dementia. Patients are clinically well-characterized from existing clinical research protocols within Clinical neurogenetics research group or Memory Clinics in Malmö and Ängelholm. Parkinson patients are also recruited from MultiPark Biobank Collection.
By the first half of 2023, the infrastructure hopes to have compiled whole exome sequencing data from 300 Parkinson patients and whole genome sequencing data from at least 20 patients with hereditary forms of frontotemporal dementia. To encourage MultiPark research on genetic causes of these neurodegenerative disorders, sequencing information and SNP variant frequency data will be compiled in a de-identified way on group level and made accessible to the MultiPark community. The summary data also includes data obtained in individual research projects without / prior to MultiPark support to maximize the numbers of patients sequenced.
This infrastructure forms a collaboration with Region Skåne who are responsible for individual patient-related data.
MD, PhD, Associate professor (Clinical neurogenetics)
Email: Andreas [dot] Puschmann [at] med [dot] lu [dot] se
PhD, Associate professor (Translational neurogenetics)
Email: maria [dot] swanberg [at] med [dot] lu [dot] se
Maria Landqvist Waldö
MD, PhD, (Clinical sciences, Helsingborg)
Email: maria [dot] landqvist_waldo [at] med [dot] lu [dot] se