Molecular Genetics

We use advanced molecular genetics techniques to investigate complex genome regions and assess the function of genetic variants, with a major focus on the genetics of the lipoprotein(a) trait. Additionally, we enjoy exploring the potential of emerging genetic technologies like nanopore sequencing to tackle difficult genetic questions across disciplines.

Lead

Stefan Coassin, PhD
Associate Professor

+43 512 9003 70576
stefan.coassin@i-med.ac.at

Team

Stephan Amstler, MSc.
PhD Student

+43 512 9003 70574
stephan.amstler@i-med.ac.at
Lara Escherich, MSc.
Lab technician

+43 512 9003 70572
lara.escherich@i-med.ac.at
Gertraud Streiter, BSc.
Lab technician (BMA) (on maternal leave)

+43 512 9003 70573
gertraud.streiter@i-med.ac.at
David Moser
Project Student

Other GenEpi people involved

We work closely with the rest of the institute team and especially with Sebastian Schönherr , Lukas Forer , Hansi Weissensteiner and Florian Kronenberg .

About

We enjoy exploring the potential of emerging genetic technologies like nanopore sequencing to tackle tough genetic questions across disciplines. A special focus lies on the genetics of the lipoprotein(a) trait, where we use advanced molecular genetics techniques to dissect this complex genomic regions, identify genetic variants of the lipoprotein(a) trait and assess the function of genetic variants in-vitro. To this extend we collaborate tightly and join forces with the other research groups at the institute that investigate lipoprotein(a) such as the Lipoprotein(a) Epidemiology Group, the Computational and Digital Genomics Group and the Genome Informatics Group.

Read here more about our research on Lipoprotein(a) Genomics: Lipoprotein(a) Genomics Project Page

(© MUI/A. Amstler)
(© MUI/A. Amstler)

Nanopore Sequencing

Nanopore sequencing allows sequencing DNA and RNA molecules by monitoring fluctuations in the ionic current while a DNA or RNA strand moves through a protein pore. Unlike other technologies, Nanopore sequencing provides data in real-time, allows up to megabase-sized read lengths, reads directly the native target molecule, provides true single molecule data and keeps information about epigenetic modifications. It also allows direct phasing of variants over long DNA segments, which is of special use in Lp(a) genetics. These features make it an appealing technology to target complex genes with structural variants and extensive homologies like the LPA gene. We explore applications of this technologies in Lp(a) genetics and beyond (such as human genetics, variant phasing, DNA/RNA epigenetics and metagenomics).

Loading the Promethion P2 Solo system with a long-read sequencing library (© MUI/D. Bullock).
Loading the Promethion P2 Solo system with a long-read sequencing library (© MUI/D. Bullock).

Technologies

Additional lipoprotein(a)-specific technologies:

Sounds interesting to you? Join us!

MolMed Lab side teaching, project studies and theses (MolMed Bachelor, MolMed Master, Medicine) available! If you are interested, contact stefan.coassin@i-med.ac.at. Available topics may involve genetic analysis of complex genome regions, methods development, applications of Nanopore sequencing and related bioinformatics, or functional characterization of SNPs.

Alumni

Funding and Projects

Key Publications

Coassin S, Kronenberg F: Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene. Atherosclerosis 349:17-35, 2022. PMID: 35606073   Review

Amstler S, Streiter G, Pfurtscheller C, Forer L, Di Maio S, Weissensteiner H, Paulweber B, Schönherr S, Kronenberg F, Coassin S: Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR. Genome Med. 16:117, 2024. PMID: 39380090   Journal Article

Grüneis R, Weissensteiner H, Lamina C, Schönherr S, Forer L, Di Maio S, Streiter G, Peters A, Gieger C, Kronenberg F, Coassin S: The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat. J. Lipid Res. 63:100306, 2022. PMID: 36309064   Journal Article

Grüneis R, Lamina C, Di Maio S, Schönherr S, Zoescher P, Forer L, Streiter G, Peters A, Gieger C, Köttgen A, Kronenberg F, Coassin S: The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A. Atherosclerosis 349:151-159, 2022. PMID: 35534298   Journal Article

Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators: Frequent LPA KIV-2 variants lower lipoprotein(a) concentrations and protect against coronary artery disease. J. Am. Coll. Cardiol. 78:437-449, 2021. PMID: 34325833   Journal Article

Di Maio S, Grüneis R, Streiter G, Lamina C, Maglione M, Schoenherr S, Öfner D, Thorand B, Peters A, Eckardt KU, Köttgen A, Kronenberg F, Coassin S: Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals. Genome Med. 12:74, 2020. PMID: 32825847   Journal Article

Coassin S, Schönherr S, Weissensteiner H, Erhart G, Forer L, Losso JL, Lamina C, Haun M, Utermann G, Paulweber B, Specht G, Kronenberg F: A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region. J. Lipid Res. 60:186-199, 2019. PMID: 30413653   Journal Article

Coassin S, Erhart G, Weissensteiner H, Eca Guimarães de Araújo M, Lamina C, Schönherr S, Forer L, Haun M, Losso JL, Köttgen A, Schmidt K, Utermann G, Peters A, Gieger C, Strauch K, Finkenstedt A, Bale R, Zoller H, Paulweber B, Eckardt KU, Hüttenhofer A, Huber LA, Kronenberg F: A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction. Eur. Heart J. 38:1823-1831, 2017. PMID: 28444229   Journal Article