ANNE SIGAARD BIE – SCA2 AT THE CELLULAR LEVEL
Postdoctoral fellow. Is exploring the cellular environment in patient-derived cell cultures to pinpoint therapeutic targets. By examining SCA2 assisted by large-scale techniques, such as mass spectrometry and RNA sequencing, the aim is to identify the function of ataxin-2 and its cellular milieu.
ADELE MARTHALER – MODELING SCA2 USING PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS (IPSCS)
Postdoctoral fellow. Has generated patient-derived iPSCs that were subsequently gene corrected using CRISPR/Cas9 gene technology. Patient iPSCs and gene-corrected controls will be differentiated into neurons to study the disease phenotype and the role of ATXN2 in the cell type predominantly affected by SCA2. Studies will include electrophysiological assays, global RNA sequencing and functional assays related to autophagy and apoptosis.
T. RUNE NIELSEN – CROSS-CULTURAL ASSESSMENT AND DEMENTIA IN ETHNIC MINORITIES
Neuropsychologist. Main research focus is cross-cultural assessment of cognitive deficits and ethnic differences in dementia diagnostics, treatment and care. He is initiating and coordinating national and international studies on the development and validation of cross-cultural cognitive tests.
TROELS TOLSTRUP NIELSEN – MOLECULAR MECHANISMS IN NEURODEGENERATION
Senior researcher. Research focus is on multiple neurodegenerative disorders, including AD, FTD and ataxias manifest in progressive loss of specific subsets of neurons in the brain. His research centres on finding molecular mechanisms in neurodegeneration using two monogenic disorders as models, namely FTD linked to FTD3 and SCA2.
KIEU PHUNG – CROSS-CULTURAL DEMENTIA EPIDEMIOLOGY AND PUBLIC HEALTH INTERVENTIONS
MD, neuroepidemiologist and visiting professor at the University of Santo Tomas and University of the Philippines. Main research focus is dementia frequency, risk factors and risk modification across different cultures and ethnic groups. She has conducted population-based studies in Denmark and Lebanon and is currently working on a research project in the Philippines that studies the attributable risk of vascular risk factors for dementia.
ANJA HVIID SIMONSEN – BIOMARKERS AND BIOBANK
Senior researcher and director of the Danish Dementia BioBank. Main research focus is molecular and genetic biomarkers for diagnosis and prognosis of neurodegenerative diseases as well as for response to interventions. Coordinator of the Danish Dementia BioBank’s participation in international collaborative biomarker projects and projects related to sample quality.
See curriculum vitae
JONATHAN WARDMAN – SCA2 AT THE CELLULAR LEVEL
Postdoctoral fellow. Is investigating the second-order dysfunction caused by aggregation and interaction of the mutant protein with various aspects of the proteostatic system. Studying the differential responses of SCA2 patient fibroblasts versus controls will make it possible to determine what specific aspects of the proteostatic system are disrupted in SCA2 and to find specific (potentially druggable) cellular targets.