HiLIFE Trainees

Hi fellow students! My name is Celia Gómez Sánchez, and I am a second-year master’s student in Genetics and Molecular Biosciences. In October 2021 I received the opportunity to attend the American Society of Human Genetics (ASHG) 2021 annual meeting. The conference was held in the US with a hybrid model, so attendees could watch the talks either on-site or online. This enabled people from all over the world to participate ¬–including me. Because there were multiple events happening simultaneously, during the week when the ASHG21 meeting happened I only attended the talks I was most interested in; nevertheless, the conferences were recorded, so they were later accessible to everybody like me that could not watch them live. This was a great feature since I was very keen on most of the topics, and wanted to make the most of this opportunity 😀

As a master’s student, I didn’t present any type of research, I only listened to the conferences. However, this was enough to learn a lot of about various topics, some of which were closely related to my master’s thesis that I’m currently working in. I was especially interested in genetics and neurosciences, and the talks concerning neurodevelopmental diseases were definitely my favorites. We learnt about the use of both cells and mice as models for the different disorders, and how they had explored the genome to find disease-causing variants. For example, one of the groups were able to identify autosomal recessive variants in genes previously unlinked to autism spectrum disorder, resulting in 31% rate of patient diagnosis. Furthermore, the talks explained the use of genomic techniques that I had recently studied (such as single-cell ATAC-seq or single-cell transcriptomics), which provided me with a great opportunity to understand better the application of these techniques with real examples and the results they provide with.

Moreover, some of the meetings specifically focused on craniofacial development, my area of research at the moment. I am studying the cranial neural crest (that gives rise to the craniofacial region), and certain conditions related to defects arising from it, such as pituitary hormone deficiency and maternally inherited gingival fibromatosis. These conditions result in delayed growth and puberty and craniofacial malformations. What is very interesting about the neural crest is that 30% of all congenital malformations in humans are derived from abnormalities in it, since the neural crest precedes the formation of multiple tissues in the embryo. Therefore, its study is key to preventing and treating multiple birth defects, and so I was very excited to learn about state-of-the-art research involving this embryonic structure. As a matter of example, I was glad to hear about TFAP2A, a cranial neural crest marker on which I have been focusing my experiments. I learnt that enhancer mutations that dysregulate this gene were found to cause branchio-oculo-facial syndrome (BOFS), a condition that results in eyes and ears malformations together with characteristic facial features.

In conclusion, being able to attend the ASHG21 meeting was a very powerful experience, that allowed me to learn about multiple topics of interest and get in touch with current methods to research human diseases. I am very happy to have been able to attend these conferences and I really thank HiLIFE for this opportunity, that I wouldn’t have been able to get on my own.

Celia Gómez Sánchez

Hi, and welcome to the HiLIFE-trainee blog! My name is Akseli Bonsdorff and I am a fourth-year medical student at the University of Helsinki and also working on my PhD-thesis in pancreas transplantation and general pancreatic surgery. My first scientific article on the role of early plasma amylase levels in predicting pancreas graft-related complications after pancreas transplantation was published in early 2021 and I received an opportunity to present the key findings of the study at the European Society of Transplantation (ESOT) 2021 congress. ESOT is a biannual congress that brings together transplantation surgeons, nephrologists, hepatologists, pathologists, nurses, and students – such as me – and acts as a platform for discussing novel topics and state-of-the-art findings in the field of transplantation.

This year, ESOT was held as a hybrid conference, and attendees had the chance to choose between on-site or online attendance. For approximately ten to twelve hours a day, I sat and listened through the many inspirational talks, keynotes, presentations, and discussions on topics ranging from the definition of brain death to the implementation of artificial intelligence applications in transplant organ allocation systems, and from the effect of Covid19 on the transplant communities to why living donor liver transplantation is not performed extensively in Western countries but cover the majority of liver transplantations in Asian countries. I am still dumbfounded by the exhaustive coverage of different topics, and probably still- after two weeks from the congress – processing all the new knowledge I gained.

On the third day of the congress came the moment of my presentation. Due to the hybrid model, I had to prerecord the bulk of my presentation and my role during the session was to answer questions arising from the audience on-site and online. The two dutch professors chairing my session were not too harsh on me, and one of them even thanked me for an interesting presentation (which he did for every presenter, but needless to say, it felt nice at the moment). Hybrid or not, my debut was something I will remember for a long time.

Without a doubt, ESOT2021 had provided me everything I expected and probably even more. I had the chance to delve deeper into my own field of research (that being pancreas transplantation), but also received tasters into the other subspecialties in transplantation. I am extremely grateful for the financial and scholarly help from my great mentors Adj. Prof. Ville Sallinen and Adj. Prof. Ilkka Helanterä. I also thank HiLIFE for the support received. Making attending an event like this possible for students and aspiring researchers is extremely appreciated.

Akseli Bonsdorff