Kajsa Brolin
A5007398166- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Nuclear Receptors and Signaling
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Biomedical and Engineering Education
- Genomic variations and chromosomal abnormalities
- Genetics, Bioinformatics, and Biomedical Research
- Biochemical Analysis and Sensing Techniques
- Genetic Associations and Epidemiology
- Pesticide Exposure and Toxicity
- Biotechnology and Related Fields
- Carbohydrate Chemistry and Synthesis
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Blood Coagulation and Thrombosis Mechanisms
- Sleep and Wakefulness Research
- Heavy Metal Exposure and Toxicity
- Cholesterol and Lipid Metabolism
- Histone Deacetylase Inhibitors Research
- Hemophilia Treatment and Research
- Mitochondrial Function and Pathology
Lund University
2017-2025
Queen Mary University of London
2024
Skåne University Hospital
2017
Abstract Background Parkinson's disease (PD) is a neurodegenerative with an often complex component identifiable by genome‐wide association studies. The most recent large‐scale PD studies have identified more than 90 independent risk variants for and progression across 80 genomic regions. One major challenge in current genomics the identification of causal gene(s) variant(s) at each study locus. objective was to create tool that would display data relevant loci provide guidance...
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom alpha-synucleinopathies and defines a more severe subtype. The genetic background RBD its underlying mechanisms are not well understood. Here, we perform genome-wide association study RBD, identifying five risk loci near SNCA, GBA, TMEM175, INPP5F, SCARB2. Expression analyses highlight SNCA-AS1 potentially SCARB2 differential expression in different brain regions with...
Background: Mitochondrial dysfunction is a key player in Parkinson's disease (PD) pathogenesis. polygenic scores (MGS) may be associated with PD but require validation across diverse populations. Objective: To validate the association between MGS, status and age-at-onset (AAO) idiopathic LRRK2-PD various ancestries. Methods: We analyzed data from 17,129 patients 13,872 healthy individuals 10 ancestries within Global Disease Genetic Program. used regression models to assess AAO. Results: The...
Introduction Parkinson’s disease (PD) is the second most common neurodegenerative disorder, increasing both in terms of prevalence and incidence. To date, only symptomatic treatment available, highlighting need to increase knowledge on etiology order develop new therapeutic strategies. Hemizygosity for gene Engrailed-1 ( En1 ), encoding a conserved transcription factor essential programming, survival, maintenance midbrain dopaminergic neurons, leads progressive nigrostriatal degeneration,...
Open science and collaboration are necessary to facilitate the advancement of Parkinson's disease (PD) research. Hackathons collaborative events that bring together people with different skill sets backgrounds generate resources creative solutions problems. These can be used as training networking opportunities, thus we coordinated a virtual 3-day hackathon event, during which 49 early-career scientists from 12 countries built tools pipelines focus on PD. Resources were created goal helping...
To determine the frequency of mutations known to cause autosomal dominant Parkinson disease (PD) in a series with more than 10% Sweden's estimated number PD patients.The Swedish Disease Genetics Network was formed as national multicenter consortium clinical researchers who together have access DNA from total 2,206 patients; 85.4% were population-based studies. Samples analyzed centrally for pathogenic SNCA (duplications/triplications, p.Ala30Pro, p.Ala53Thr) and LRRK2 (p.Asn1437His,...
Risk factors for Parkinson's disease (PD) can be more or less relevant to a population due population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential study PD at local, regional, continental scale in order increase the knowledge on etiology.We aimed investigate contribution of new Swedish case-control cohort.PD patients (n = 929) matched population-based controls 935) from southernmost county Sweden were included cohort....
Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding association between CNVs disease susceptibility is significant importance genetics research often requires analysis large sample sizes. One most cost-effective scalable methods for detecting based on normalized signal intensity values, such as Log R Ratio (LRR) B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present...
Parkinson's disease (PD) is a common, progressive neurodegenerative disease, which typically presents itself with range of motor symptoms, like resting tremor, bradykinesia, and rigidity, but also non-motor symptoms such as fatigue, constipation, sleep disturbance. Neuropathologically, PD characterized by loss dopaminergic cells in the substantia nigra pars compacta (SNpc) Lewy bodies, neuronal inclusions containing α-synuclein (α-syn). Mutations copy number variations SNCA, gene encoding...
ABSTRACT Rapid eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom alpha-synucleinopathies. RBD also defines more severe forms The genetic background and its underlying mechanisms are not well understood. Here, we performed the first genome-wide association study RBD, identifying five risk loci. Expression analyses highlight SNCA-AS1 SCARB2 differential expression in different brain regions with further supported by...
Abstract Parkinson’s disease (PD) is a neurodegenerative with an often complex genetic component identifiable by genome-wide association studies (GWAS). The most recent large scale PD GWASes have identified more than 90 independent risk variants for and progression across 80 loci. One major challenge in current genomics identifying the causal gene(s) variant(s) from each GWAS locus. Here we present locus browser application that combines data multiple databases to aid prioritization of genes...
1. Abstract Engrailed 1 (EN1) is a conserved transcription factor essential for programming, survival, and maintenance of midbrain dopaminergic neurons. En1 -hemizygosity ( +/- ) leads to spontaneous Parkinson’s disease-like (PD-like) progressive nigrostriatal degeneration as well motor impairment depressive-like behavior in SwissOF1 (OF1 -En1 mice. This phenotype absent C57Bl/6j (C57 Here we studied PD-like phenotypes early transcriptome profiles OF1 wild-type (WT) OF1- male mice compare...
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Parkinson's disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to risk. Multiple genes have been reported be linked monogenic PD but these only explain fraction of the observed familial aggregation. Rare RIC3 suggested associated with Indian population. However, replication studies yielded inconsistent results. We further investigate role European cohorts using individual-level genotyping data from 14,671 patients 17,667 controls,...
Abstract Objective REM sleep behavior disorder (RBD) is a prodromal synucleinopathy, reported in subset of Parkinson’s disease (PD) patients, and associated with neuropsychiatric symptoms PD. We aimed to compare the genetic background PD patients probable RBD (PD+RBD) without (PD-RBD). Furthermore, we examined correlations potential causal associations between multiple traits PD+RBD. Methods performed genome-wide association study (GWAS) including 5,403 PD+RBD 13,020 PD-RBD. To test for...
Abstract Background Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons collaborative events that bring together people with different skill sets backgrounds generate resources creative solutions problems. These can be used as training networking opportunities. Objective To coordinate a virtual hackathon develop novel PD research tools. Methods 49 early career scientists from 12 countries collaborated in 3-day event May...
Abstract BACKGROUND Risk factors for Parkinson’s disease (PD) can be more or less relevant to a population due population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential study PD at local, regional, continental scale in order increase the knowledge on etiology. OBJECTIVE We aimed investigate contribution of new Swedish case-control cohort. METHODS patients (n=929) matched population-based controls (n=935) from southernmost county...
Abstract Parkinson’s disease (PD) is a complex neurodegenerative disorder in which both rare and common genetic variants contribute to risk. Multiple genes have been reported be linked monogenic PD, but these only explain fraction of the observed familial aggregation. Rare RIC3 suggested associated with PD Indian population. However, replication studies yielded inconsistent results. We further investigate role European cohorts using individual-level genotyping data from 14,671 patients...