Carmine Belin Laboratory
The purpose of our research is to increase the understanding of the pathophysiology of neurological disorders with a focus on Parkinson’s disease (PD) and neurovascular disorders such as cluster headache by identifying, characterizing and modelling genetic markers within the human genome.
Certain rare forms of these conditions are monogenic and there is increasing evidence that genetic factors are important also for sporadic forms. We suggest that there are multiple genetic factors that combine in different ways to increase or decrease risk for disease. They need to be identified in order to begin unwinding the causative pathways leading to the different forms of the disorders.
Knowledge about gene function and findings from linkage and genome-wide association studies are applied to clinical material (DNA and cell lines) collected from patients with PD and cluster headache as well as neurologically healthy controls to decipher genetic factors.
Key genetic findings are evaluated by:
- quantification of possible candidate gene and protein expression differences caused by genetic variation in biological samples and in silico
- characterization of candidate gene and protein expression in human and rodent tissue
- development and characterization of transgenic animal models.
The identification of new genetic risk and protective markers for these disorders should allow insight into the pathophysiological mechanisms, and thereby lead to improved diagnosis and aid in the development of novel classes of drugs able to prevent and/or counteract disease.
Screening of Two ADH4 Variations in a Swedish Cluster Headache Case-Control Material.
Headache 2016 Apr;():
ReMo-SNPs: a new software tool for identification of polymorphisms in regions and motifs genome-wide.
Genet Res (Camb) 2015 Apr;97():e8
A replication study of GWAS findings in migraine identifies association in a Swedish case-control sample.
BMC Med. Genet. 2014 Mar;15():38
The HLA-DRA variation rs3129882 is not associated with Parkinson's disease in Sweden.
Parkinsonism Relat. Disord. 2013 Jul;19(7):701-2
Adh1 and Adh1/4 knockout mice as possible rodent models for presymptomatic Parkinson's disease.
Behav. Brain Res. 2012 Feb;227(1):252-7
Andrea Carmine Belin - Associate Professor
Carmen Fourier - Research assistant
Caroline Ran - Postdoc
Gabriella Lundkvist - Associated
Julia Michalska - Research assistant