Genetics of Neurodegenerative Diseases – A special interest group

By martina [dot] svensson [at] med [dot] lu [dot] se (Martina Svensson) - published 28 March 2023

Genetics are one of the keys to understanding neurodegenerative disease. That is why MultiPark researchers with expertise in genetics gather across research groups. Genetics of neurodegenerative diseases is a new special interest group (SIG) addressing scientific and technological needs to unravel the genetics behind diseases such as Parkinson’s and Alzheimer’s. Andreas Puschmann tells about how he will convene the joint effort.

Can you shortly describe the research topics included in your SIG?

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, to elucidate new disease causes and to characterize new genetic neurodegenerative disorders.

Which of MultiPark’s strategic goals does it best align with?

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 in health services and directly implement novel research findings in their practice.

What are your overarching goals?

We want to strengthen MultiPark’s national and international position regarding genetics research and facilitate collaborations between clinical and experimental genetics groups within MultiPark. We also aim at promoting the use of MultiPark genetics resources, such as the MultiPark Biobank Collection and the NGS database.

What activities do you plan?

We have brain-storming discussions to address new scientific and technical directions within the topic. Further, we want to increase interest in additional activities, such as recurring clinical genetics journal clubs, seminars, or workshops.

How many early-career researchers (PhD students, postdocs) are affiliated with this SIG?

Around 45.

How do you think that early-career researchers can contribute to the SIG?

Early-career researchers can contribute markedly to this SIG by arranging SIG activities, and suggesting and preparing topics. We PIs and organizers provide a framework for activities and are happy to provide feedback where required.