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Játtað í: 2013 Granskingarøki: Heilsa Verkætlanarslag: Verkætlan Verkætlanarheiti: Genetiskar orsøkir til Parkinsons sjúku í Føroyum. Defining the genetic etiology of Parkinson's disease in the Faroes Játtanarnummar: 0328 Verkætlanarleiðari: Maria Skaalum Petersen Stovnur/virki: Deildin fyri Arbeiðs- og Almannaheilsu Aðrir luttakarar: Matthew Farrer, Pál Weihe, Sára Bech, Poul Joensen, Jan Aasly og Beate Ritz Verkætlanarskeið: 01.01.-31.12.2014 Samlaður kostnaður: 2.246.018 DKK Stuðul úr Granskingargrunninum: 1.039.613 DKK Verkætlanarlýsing: Original: Parkinson´s disease (PD) is an age-associated condition for which genetic, lifestyle and environmental influences contribute. We have already defined major environmental and dietary risk factors on the Faore Islands. In past studies we noted that some families were particularly heavily burdened by disease, with many affected family members. Our research into medical and Faroese genealogic data also suggest blood relatives of affected subjects have substantially greater risk of becoming affected, irrespective of where they live. Hence, we aim to test the hypotheses that in the Faroes genetic variability underlies a significant proportion of PD risk. Our proposal has the following aims: Aim 1 – Extensive clinical, genealogic, environmental and genetic evaluation of four families in which many family members are affected. This will include prospective recruitment of 1st-3rd degree relatives. Aim 2 – Targeted DNA custom-capture and next-generation sequencing for a comprehensive panel of genes implicated in neurodegeneration, in family members. Aim 3 – Whole-exome sequencing and comparison of these genetic finding for a subset of affected persons/families. Aim 4 – Validation of genetic results associated and/or which segregate with PD within Faroese pedigrees, within Norwegian and Canadian population samples. Our project builds upon past investment and is likely to make a major contribution to understanding the aetiology of PD. The international team behind this project has successfully employed massively parallel, “next-generation” sequencing, within families, to identify novel genes for PD. With complete ascertainment of existing and de novo PD in the Faroe Islands, and several multi- incident families with detailed genealogies, we present the opportunity for a similar study. Final: A total of 153 family members were recruited and answered around 5 different questionnaire covering lifestyle, family history and other issues. A blood sample was collected for genetic analyses. A subgroup of family members was invited to undergo a neurological examination. The genetic analyses encompass targeted DNA custom-capture and next-generation sequencing and have been completed for now. The screening for known genes suggests that rare variants in genes previously linked to PD are not major contributors to to PD in the Faroe Islands. Further do our results show that overall, the relative risk for PD was 2.3 for siblings and 1.4 for first cousins and that the disease is most prevalent within two geographic regions. The etiology and excess prevalence of PD on the Faroes is complicated. Regional and familial clustering, and subsequent segregation analysis, suggests the disease best fits a genetic etiology with limited support for an environmental contribution. However, this has to be explored further. Currently, the bioinformatics statistical analyses are ongoing on the exome data. But with final analysis we hope to have a more conclusive conclusion and papers will be published continuously. Støða: Liðug Avrik: Scientific articles, books, thesis etc.: Petersen MS, Bech S, Nosova E, Aasly J, Farrer MJ. Familial aggregation of Parkinson disease in the Faroe Islands. Mov Disord. 2015 Apr;30(4):538-44 Petersen MS, Guella I, Bech S, Gustavsson E, Farrer, MJ. Parkinson’s disease, genetic variability and the Faroe Islands. Parkinsonism Relat Disord. 2015;21:75-78 Trinh J, Guella I, McKenzie M, Gustavsson E, Szu-Tu C, Petersen MS, Rajput A, Rajput A, McKeown M, Jeon BS, Aasly J, Bardien S, Farrer MJ. Novel LRRK2 mutations in parkinsonism.. Submitted to Parkinsonism Relat Disord, May 2015. Participation in scientific meetings: Talk: Parkinson’s disease research in the Faroe Islands. 9th Annual Genetics Epidemiology of Parkinson’s Disease Consortium, Sep 2014, Vancouver. Poster: Familial aggregation of Parkinson disease in the Faroe Islands. Genetic Epidemiology in Homogeneous Populations Symposium 2015 (GEHOPS), Maj 2015. Publications outside the scientific community, i.e. lectures, periodicals, articles in newspapers, television and radio: Radio talk in connection with that I received this grant. Radio talk in Góðan Morgun Føroyar about this study Participating in the broadcast «Vitan» about Parkinson’s disease (http://kvf.fo/netvarp/uv/2014/12/02/vitan-um-parkinson) Public talk about the Parkinson research in connection with a public meeting arranged by the Faroese Parkinson Association (http://www.parkinson.fo/news-video+fyrilestur+vid+mariu+skaalum+petersen.htm) A article about me in the magasin « Pharmadanmark » about a travel grant I received and my research in Parkinson’s disease in the Faroe Islands (https://www.pharmadanmark.dk/aktuelt/pharma/Documents/2014-september/Pharma0914_s26-27.pdf) A article written by myself in the magasin «Frøði» with the title: Vilja loysa gátuna um Parkinson << Back |
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