Doctoral Defense in Biomedical Sciences – Ástrós Thorarensen Skúladóttir

Tuesday, 18 November 2025 – 09:00, Ceremonial Hall (Hátíðasalur), University of Iceland

Ástrós Thorarensen Skúladóttir will defend her doctoral thesis in Biomedical Sciences at the Faculty of Medicine, University of Iceland.

The thesis is entitled:
Genetics and Biomarkers of Movement Disorders
(Erfðir og lífmerki hreyfitaugaraskana)

Opponents:

Dr. Per Svenningsson, Professor at the Karolinska Institutet and University Hospital, Stockholm

Dr. Henrik Zetterberg, Professor at Sahlgrenska University Hospital, Gothenburg

Supervisor: Ólafur Árni Sveinsson
Doctoral Advisor: Kári Stefánsson
Doctoral Committee: Anna Björnsdóttir, Neurologist, and Hreinn Stefánsson, Head of Department

Professor Sædís Sævarsdóttir, Dean of the Faculty of Medicine, will chair the ceremony, which will take place in the Ceremonial Hall of the University of Iceland (Hátíðasalur) at 09:00.

Abstract
Movement disorders are among the most common neurological conditions, yet their molecular mechanisms remain incompletely understood. The overarching aim of this thesis was to explore the genetic and molecular architecture of the two most prevalent movement disorders, essential tremor (ET) and Parkinson’s disease (PD), to identify risk factors, clarify biological pathways, and discover biomarkers that can enable earlier and more accurate diagnosis.

The thesis is based on three studies. The first is a large-scale genome-wide association study meta-analysis of ET with multiomics approaches to prioritize causal genes for pathway analysis. The second is a gene-burden analysis of loss-of-function variants in PD. The third applies large-scale proteomic profiling of cerebrospinal fluid and plasma to study PD across different stages, from pre-onset to early disease to symptom severity and progression. Together, the findings show a consistent involvement of Rho GTPase signaling and synaptic vesicle function, particularly clathrin-mediated endocytosis, in the pathogenesis of both ET and PD, suggesting their importance in contributing to neuronal vulnerability in movement disorders.

About the Doctoral Candidate
Ástrós Th. Skúladóttir was born in 1991 in Keflavík, Iceland. She completed a B.Sc. degree in Biochemistry and Molecular Biology at the University of Iceland in 2014, after which she began working on genetic research in the field of neuroscience at deCODE Genetics.

Alongside her work, she completed an M.Sc. degree in Biomedical Sciences, focusing on variation in repeat length in neurological disorders. In 2023, she began her doctoral studies under the supervision of Dr. Kári Stefánsson and Dr. Hreinn Stefánsson.

Ástrós is the daughter of Skúli Ágústsson and Stella María Thorarensen. She is married to Birkir Már Árnason, and they have a daughter, Dagbjört Rós (2 years old), and are expecting their second child.