24 January 2022. News briefs from the Nordic Society of Human Genetics and Precision Medicine.
- Nordic Findings
- Upcoming Events
- Funding News
- Featured Jobs and Training Opportunities
- About Us
Large-scale study of proteome with genetics and disease
In a genome-wide trifecta, scientists at deCODE genetics looked at levels of nearly 5,000 circulating proteins in almost 36,000 Icelanders for new insights into human diseases and other traits. They combined the plasma protein data with sequence diversity and RNA expression increases. The researchers found more than 18,000 associations between gene variants and protein levels, most of which were novel. “The paper presents the largest-ever genetic study of the plasma proteome,” tweeted first author Egil Ferkingstad. “Proteomics can assist in solving one of the major challenges in genetic studies: to determine what gene is responsible for the effect of a sequence variant on a disease,” said Kári Stefánsson, deCODE CEO and a senior author, in a news release. Stefánsson also discusses the work in an archived video at Somalogic, a platform used in the study. The paper was published online 2 December in Nature Genetics.
Blending digital and molecular data for personal health
What happens when individuals have their health data at their fingertips and the expert coaching to use that information to shape their personal health trajectories? A pilot study demonstrates that data-driven feedback and personal coaching can have a positive influence on health and motivate people to make lifestyle changes. In turn, the data also reflected changes in clinical variables associated with health and disease over time. The study collected serial data on nearly 100 people from a Helsinki, Finland, occupational healthcare clinic for 16 months. Data sources ranged from smart watch tracking of activity and sleep to clinical measurements, health surveys, genomics, proteomics, autoantibodies, metabolomics, and gut microbiome. “Instead of focusing on the treatment of the later stages of disease, future healthcare services could focus on more proactive and individualized interventions, and on the early detection of disease,” says first author Francesco Marabita, a researcher at Karolinska Institutet and SciLifeLab in Sweden, in a news release. The paper comes from the Digital Health Revolution project, a multicenter study that also includes researchers from the Institute for Molecular Medicine Finland (FIMM) at the University of Helsinki to explore and pilot future approaches to healthcare.
Mapping the human genetic architecture of COVID-19
When the pandemic hit, about one-third of researchers in one survey pivoted, many forming new alliances working at breakneck speed. Among those, the COVID-19 Host Genetics Initiative was one of the “most inspiring developments” of the pandemic, raved a recent Nature editorial. The initiative’s flagship paper finally came out in print on 16 December, nine months after release as a preprint and six months after online publication. As the paper reports, the human genome matters for COVID-19 infection and disease—13 regions in particular—based on data from nearly 50,000 COVID-19 patients and 2 million uninfected controls collected as of January 2021. The global initiative was founded in March 2020 by Andrea Ganna and Mark Daly from the Institute for Molecular Medicine Finland, University of Helsinki, and the Broad Institute of MIT and Harvard, to learn how a person’s genetic makeup influences how sick they get from COVID-19. Ganna reached out to other scientists on Twitter to help. As of the June 2021 data freeze, the network now numbers more than 3,300 scientists in 24 countries who have continued to parse out the genetics and biology in 61 studies and counting.
Stay up-to-date on Nordic research
The NSHG-PM generates and curates a biweekly list of papers from members of the community and other Nordic researchers in human genetics and precision medicine.
25 January: “Towards enabling precision and translational medicine,” a session highlighting services capabilities from user researchers, SciLifeLab Infrastructure Outreach Week.
26-28 January: Festival of Genomics and Biodata (virtual).
28 January: First event in FAIRPoints, a SciLifeLab series highlighting pragmatic measures for implementation of the FAIR (Findable, Accessible, Interoperable, Reusable) data principles.
4 February: Applications due for Danish Diabetes Academy’s Data Science Spring School & Challenge (23-25 March) for early-career researchers and professionals; applications close 4 February.
22 March: Data-Driven Life Science Research area conference includes session on precision medicine and diagnostics.
20 July: 200th Anniversary of Gregor Mendel’s birth. If you don't have time to join the celebration at the Mendel Museum at his abby in Brno, Czech Republic, there will surely be other birthday parties.
Applications are due 1 February 2022 for funding to support a basic or clinical diabetes research project. The European Foundation for the Study of Diabetes (ESFD) and Novo Nordisk offer up to Euro 100,000 for basic or clinical research.
FEATURED JOBS AND TRAINING OPPORTUNITIES
Exciting opportunity for the right candidate. Post-doc position linked with the Norwegian part of the @EBPgenome project - in cooperation with @elixirnorway @ELIXIREurope @cbu_bergen @UiB @II_UiB https://t.co/7ltDcG7fbe— Inge Jonassen (@ingejonassen) January 7, 2022
Join our department!— Sara Hägg (@HaggSara) December 16, 2021
1-4 Assistant Professors (tenure-track) in Epidemiology or Biostatistics https://t.co/ROKq4z1KX8
CTMR is hiring! Experienced microbiome bioinformaticians are welcome to join us in Stockholm. RT = ?https://t.co/h1y9BXkw2I— CTMRBio (@CTMRBio) December 17, 2021
Do you want to contribute to developing the next generation Precision Medicine?https://t.co/lM9VIV8HQj— Åsa Johansson (@JohanssonAasa) January 17, 2022
Join our group as bioinformatician! https://t.co/O47nZGJlKl— Richard Rosenquist Brandell (@rosenquistbrand) January 17, 2022
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.