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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.

A fictive pedigree. Illustration.
Fictive pedigree. A pedigree can be useful for keeping track of hereditary patterns in a specific family.

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.

Overarching goals

  • 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

Planned activities

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.

Convening person

Andreas Puschmann. Photo.
Photo: Tove Smeds.

Andreas Puschmann

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)  

Link to Andreas Puschmann's profile in the LU research portal.