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Trial Lecture – time and place
See Trial Lecture.
Adjudication committee
- First opponent: Professor Janine Kirby, University of Sheffield, UK
- Second opponent: Associate professor Håkan Thonberg, Karolinska University Hospital, Sweden
- Third member and chair of the evaluation committee: Professor Benedicte Alexandra Lie, University of Oslo
Chair of the Defence
Professor emeritus Erik Taubøll, University of Oslo
Principal Supervisor
Professor II Helle Høyer, University of Oslo
Summary
In her thesis, Genetic risk variants and the genetic architecture of amyotrophic lateral sclerosis in Norway, Camilla Novy and colleagues investigated genetic causes and risk factors in Norwegian patients with the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS). ALS is traditionally classified into familial ALS, where multiple family members are affected, and sporadic ALS, where the disease occurs without a known family history.
By analysing genetic data from 605 Norwegian ALS patients, Novy identified disease-causing genetic variants in approximately 16% of patients. The most common genetic causes were variants in the C9orf72 and SOD1 genes. In addition, she identified several genetic risk factors that may increase susceptibility to ALS, including among patients without a known family history of the disease.
The study showed that approximately one in ten patients with sporadic ALS carried a known disease-causing genetic variant, and that some patients originally classified as sporadic may in fact have unrecognised hereditary disease. These findings support offering genetic testing to all ALS patients, not only those with a known family history.
In Norway, approximately 400 people are living with ALS at any given time, and around 150 new cases are diagnosed each year. Although the causes of ALS are still not fully understood, this study provides new insight into the role of genetic factors in disease development and may contribute to the development of future targeted therapies.
Additional information
Contact the research support staff.