Genetics of neurodegenerative diseases
This group brings together researchers who look for causes of neurodegenerative diseases in the genetic code of our patient series and families. DNA from an increasing number of patients is being examined by whole genome or whole exome sequencing methods, and group members are involved in the genetic analyses of this genetic data.
Members represent those who primarily look for monogenic disease causes and those who primarily elucidate genetic risk factors. Together we want to make the best use of the strong research tools that modern DNA analyses provide, elucidate new disease causes, and characterize new genetic neurodegenerative disorders.
In alignment with MultiPark's strategic goals
Elucidating the genetic causes of disease is fundamental to “Understand the origin and progression of neurodegenerative disease”. Using DNA analyses from a simple blood test for diagnostics aligns with the goal to “Develop accurate and cost-effective diagnostics using minimally invasive methods”. Many group members work within the health services and directly implement novel research findings in their practice.
- Strengthen MultiPark’s national and international position regarding genetics research
- Facilitate collaborations between clinical and experimental genetics groups within MultiPark
- Promote the use of MultiPark genetics resources: MultiPark Biobank Collection and NGS database
The group plans to organize brain-storming discussions to address new scientific and technical directions within the topic. We want to increase the interest in additional activities, such as recurring clinical genetics journal clubs, seminars or workshops.
Associate Professor in neurology and consultant neurologist.
andreas [dot] puschmann [at] med [dot] lu [dot] se (andreas[dot]puschmann[at]med[dot]lu[dot]se)