Tuesday, 15 February 2022. News briefs from the Nordic Society of Human Genetics and Precision Medicine.
First off, Finland, along with at least UK, Iceland, Estonia and Denmark is a great place to leverage population understanding of health (good accessible medical records, at least at a hospital diagnosis level, sometimes deeper) and genetics.— Ewan Birney (@ewanbirney) January 30, 2022
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Large study reveals more of the biological basis of migraine (Nature Genetics)
In the largest genome-wide meta-analysis of migraines so far, an international team led by Matti Pirinen and Heidi Hautakangas at the Institute for Molecular Medicine Finland, University of Helsinki, have more than doubled the number of known risk loci. The study in Nature Genetics contains multiple biological insights. They found genetic evidence on both sides of a long debate about the tissues of origin: Both the vascular system and central nervous system play a part in the pathophysiology. In a subtype analysis, migraines with and without auras shared some risk alleles and had other alleles specific to only one subtype. And two of the new loci include molecular targets of recent effective migraine treatments, affirming the possibility of others in the future. In addition to Nordic colleagues in Denmark, Estonia, Finland, Iceland, Norway, and Sweden, the FIMM group’s collaboration included researchers from Australia, Germany, the Netherlands, UK, and US.
Absence analysis reveals pathogenic genes (Nature Communications)
“Until now, the study of genotype-phenotype correlation has mainly been centered on observed genotypes,” wrote researchers who flipped that perspective to look for the absence of expected genotypes from a large population. First author Guðný Árnadóttir and senior author Kári Stefánsson at deCODE and colleagues leveraged the isolation of the Icelandic population and the founder effect to look for sequence variants that may be pathogenic when a person has two copies. They looked at missense variants, where a single nucleotide substitution changes a protein building block (amino acid) and affects the protein function. They found a previously unidentified disease gene (CPSF3) in people with severe intellectual disability, seizures, microcephaly, and abnormal muscle tone. Two other missense genotypes cause early-onset disease and previously unexplained early miscarriage, Árnadóttir tweeted.
Genetics meets population disease burden (medRxiv preprint)
“What’s the impact of genetic risk factors on overall disease burden?” asks first author Sakari Jukarainen, a postdoc at the Institute for Molecular Medicine Finland, in a Twitter thread. That’s the question that motivated a study posted as an medRxiv preprint. The work-in-progress paper combines existing common and rare genetic association results for 80 diseases with a prominent global health measurement. “It is a first step to get genetics speaking the ‘language’ of public/global health,” tweeted senior author Andrea Ganna. The genetics adds two things – a way to trace the etiology of disease and an immediate rationale to use genetics to screen and intervene earlier in disease processes, tweeted British bioinformatician Ewan Birney in a thorough Twitter thread about the findings and implications. “DNA is not your destiny; it is just the cards you were born with,” Birney tweeted. “You (and your parents and all of us in how we structure society) get to choose how to play this game.”
Stay up to date on Nordic research
The NSHG-PM generates and curates a biweekly list of these and other papers from members of the community and other Nordic researchers in human genetics and precision medicine.
24 February (virtual): Alejandro Gomez Toledo in the National Seminar Series in Mass Spectometry-based Proteomics, every second Thursday through early May. Hosted by Swedish Proteomics Society, SciLifeLab, and BioMS Sweden.
28 February (virtual): Tuuli Lappalainen in the K.G. Jebsen Center for Genetic Epidemiology Seminar Series, the last month of each month. Hosted by the Norwegian University of Science and Technology.
10 March (virtual): Husen Umer Toledo in the National Seminar Series in Mass Spectometry-based Proteomics, every second Thursday through early May. Hosted by Swedish Proteomics Society, SciLifeLab, and BioMS Sweden.
22 March (virtual): SciLifeLab Data-Driven Life Science (DDLS) conference includes session on precision medicine and diagnostics. Registration opens 15 February.
24 March (virtual): Jonas Nilsson in the National Seminar Series in Mass Spectometry-based Proteomics, every second Thursday through early May. Hosted by Swedish Proteomics Society, SciLifeLab, and BioMS Sweden.
28 March (virtual): Samuli Ripatti seminar in the K.G. Jebsen Center for Genetic Epidemiology Seminar Series, the last month of each month. Hosted by the Norwegian University of Science and Technology.
7-8 April (Korsør, Denmark): 5th Dianalund International Conference on Epilepsy. Abstract submission deadline is 21 February.
25-27 April (virtual): 1st European Society of Human Genetics Course on Precision Medicine: A Focus on Clinical Utility. Applications for scholarships for early career scientists and clinicians close 20 March.
28-29 April (Stockholm): Nordic Precision Medicine Forum.
Novo Nordisk Foundation’s Distinguished Innovator grant program expands eligibility to researchers from any Nordic country. Grant Applications close 9 March.
FEATURED JOBS AND TRAINING OPPORTUNITIES
Doctoral (PhD) student position in microbiome research in women’s health (industrial PhD) at Karolinska Institutet: Applications close 20 February.
Mass Spectrometry Application Specialist for the Proteomics Research Infrastructure at University of Copenhagen: Applications close 27 February.
Research engineer for large-scale sequencing operations at SciLifeLab/Stockholm University: Applications close 28 February.
PhD in genetic epidemiology at Norwegian University of Science and Technology (NTNU): Applications close 1 March.
Postdoc positions in Nuclear RNA Biology at Aarhus University: Applications close 1 March.
PhD in Bioinformatics at University of Copenhagen: Applications close 6 March.
Postdoc in chromatin topology of enhancer-gene communication at University of Copenhagen: Applications close 6 March.
Laboratory Manager, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen: Applications close 7 March.
Postdoc/researcher in statistical genetics at Aarhus University: Applications close 7 March.
Postdoc in machine learning for single-cell data analysis at Molecular Infection Medicine Sweden/Umeå University: Applications close 11 March.
Tenure Track Assistant Professorship in Microbiology at the University of Southern Denmark: Applications close 31 March.
“Excellence by Choice” Postdoctoral Programme in Life Science at Umeå University: Applications close 3 April.
WHAT WE’RE READING
Precision Medicine, AI, and the Future of Personalized Health Care (Clinical and Translational Science)
Roadmap to Increase Diversity in Genomic Studies (Nature Medicine)
Personalized medicine goes far beyond genetics (Stat News)
Mendelian Randomization (Nature Reviews Methods Primer)
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians (British Medical Journal)
Thanks for reading. This news and events roundup was written by Kaia Heimer-Bumstead and Carol Cruzan Morton.
The Nordic Society of Human Genetics and Precision Medicine brings together scientists with stakeholders in the Nordic region to accelerate large-scale research combining molecular, registry, and other data to understand, prevent, and treat common complex diseases.