NSHG-PM News in Brief: MoBa, Alzheimer's, Fine-Mapping, Jobs ...

Friday, 1 October 2021. News briefs from the Nordic Society of Human Genetics and Precision Medicine.

In the September NSHG-PM webinar, we heard about Norway’s famed Norwegian Mother, Father and Child Cohort Study (MoBa). “The most important discoveries lie ahead of us,” Camilla Stoltenberg of the Norwegian Institute of Public Health told us. Her colleague Alexandra Havdahl followed up with a deep dive on using MoBa genetic data to understand influences on children's neurological development. Watch the archived webinar here.

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NORDIC FINDINGS

Nature Genetics: Bigger Sample Size Yields More Risk Genes

NatureGeneticsSept2021_1.pngIn more than 90,000 cases and one million controls, an international team with a strong Nordic component found 38 risk loci for late-onset Alzheimer’s disease (AD), including seven new ones. The variants implicate microglia, immune cells, and protein breakdown.

The study analyzed samples of people of European ancestry diagnosed with AD or with a family history of the disease from 13 cohorts, including Finland, Iceland, Norway, and Sweden. This study is part of the international Psychiatric Genomics Consortium-Alzheimer’s Workgroup, and was led by Danielle Posthuma from Vrije Universiteit Amsterdam and Ole Andreassen from University of Oslo.

The findings are summarized here and discussed in more detail in an AlzForum story.

 

Nature Genetics: Two Independent Fine-Mapping Analyses

After genome-wide association studies (GWAS) find variations linked to traits and disease, it takes other statistical tools, such as gene expression and splicing quantitative trait loci (eQTLs), to fine-map those variations to specific changes in the biology and identify potential target genes for therapy. Two independent international teams led by Estonia researchers have a pair of new fine-mapping analyses.

In one paper, researchers report the methods they used to create the eQTL Catalogue, the largest compendium of uniformly processed eQTL summary statistics and fine-mapping results. The database has a search engine for entering the coordinates of a genetic variant and finding a list of genes regulated by that variant. The collaboration with UK researchers started as a way to work around data-sharing restrictions, according to blog posts with co-first author Nurlan Kerimov and co-senior author Kaur Alasoo at University of Tartu. Now, the team is looking for collaborators who would like to contribute their datasets in a federated manner. Kerimov offers a tweetorial.

Most genetic variants associated with traits and diseases work through regulatory mechanisms. The other study analyzes genomic data from the blood samples of more than 30,000 people to identify thousands of new regulatory regions that seem to influence a smaller core group of disease-linked genes. The findings are a step toward precision medicine, reads a news release from Australian collaborators. The resource is now available to researchers worldwide.

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DEADLINES, DEADLINES

Join the who’s who of Nordic human genetics and precision medicine at the upcoming meeting and workshop.

Monday, 8 October 2021: Abstract deadline for 2021 NSHG-PM General Conference (8-9 November 2021).

Friday, 8 October 2021: Abstract deadline for 2021 Workshop on Research Response to COVID-19 in Nordic Countries (4 November 2021). 

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FEATURED JOBS AND TRAINING OPPORTUNITIES