Arianna Landini

 

Statistical geneticist exploring genetic variants contributing to protein glycosylation

 

ESR11 - Arianna Landini

Hello!

My name is Arianna and I come from Parma, a town in northern Italy famous for its food, architecture and art. I started my academic path at University of Parma, in my hometown. There I graduated in Food Science, with a thesis evaluating the genetic biodiversity of different cherry and fig tree cultivars, peculiar of the Parma province geographic area. I then decided to further my studies at the University of Bologna, where I obtained a master’s degree in Biodiversity and Evolution, working on a project assessing the possible adaptive evolution of Asian populations in response to rice-based diets.

I joined the IMforFUTURE network in September 2018 as Early Stage Researcher (ESR) 11, working at University of Edinburgh under the supervision of Prof. James Wilson and Dr. Lucija Klarić. My research project “Genetic variants in protein glycosylation” mainly consists in investigating the contribution of low frequency and rare genetic variants to glycomic and glycoproteomic variation.


What are glycans?

Glycosylation is one of the most frequent modifications that can occur to a protein, where a sugar molecule, called glycan, is attached to the protein chain. The large-scale study of the whole collection of glycans in an organism is called glycomics. Despite glycans being involved in the aging process and in a wide variety of diseases (as for example type 2 diabetes, cancer, Crohn’s disease and rheumatoid arthritis), genes regulating the  glycosylation process of proteins have been only partially identified.

 

Why are rare genetic variants relevant?

To date, a large part of genetic variation influencing complex traits and diseases still remains unexplained. In fact, genetic variants that have been identified by far are able, even taken all together, to explain only a portion, smaller than expected, of the heritability of these traits. This situation is usually referred as the “missing-heritability problem”. The “missing-heritability problem” is also caused by the fact that rare and low-frequency variants are overall under-studied, even if their contribution to genetics of complex traits has been shown to be not negligible.

 

What is my research project about?

The aim of my project is to address this knowledge gap,  investigating the contribution of low frequency and rare genetic variants to glycomics. For reaching this goal, I’m analysing samples coming from genetically isolated populations, which are in fact really advantageous for studying rarer genetic variants: in fact, some alleles found at low frequency in the general population may  haven risen instead at higher frequency in isolated populations. Power to detect rare variants possibly associated to glycosylation is further boosted by the fact that highly dense genetic data are available for these cohorts.


Secondment

I had the opportunity to spend one month in Genos Glycobiology Laboratory (Zagreb, Croatia), the laboratory providing the glycan measurements I’m currently integrating with genomic data. During this secondment I had been guided through all the steps required for performing glycomics measurement: I was thus able to gain a first-hand experience about how glycan data are obtained in the lab. Knowing this experimental procedure represents an essential factor for proper data handling and strongly contributes to my overall understanding of glycomics.


Public engagement

Another relevant aspect of the IMforFUTURE network is to overall popularise science and promote our research activity: to achieve this goal, IMforFUTURE’s ESRs planned and delivered a public engagement event during summer 2019.

I was mainly involved in the workshop activity for children, for which I designed and delivered an activity related to DNA transcription and translation processes. After a brief talk for introducing main concepts of genetics, such as the DNA structure, the base pair rules, DNA transcription to mRNA and its translation to proteins, the kids “staged” the DNA transcription and translation process. Starting from provided DNA sequences, kids were asked to reconstruct the complementary mRNA and tRNA sequences, choosing and arranging in the right order cards provided. Finally, flipping the tRNA cards correctly arranged, kids were able to obtain the final amino acid chain encoded by the starting DNA sequence.