Data Analysis and Personalised Medicine: Summer School in Cardiogenetics

The Continuing Professional Development Centre of the HSE Faculty of Computer Science has recently hosted the summer school 'Cardiogenetics: From Sequencing to Constructing a Cardio Panel'. The school programme was co-organised by the Russian Academy of Sciences' Institute of Analytical Instrumentation and Institute of Spectroscopy and the Syntol company.

The summer school was conducted within the framework of the Federal Research Programme for Genetic Technologies Development for 2019–2027. Admission was granted free of charge, based on the outcomes of a competitive selection process. The organisers received 150 applications, of which 25 were selected by the school's programme committee. Learners who successfully completed the programme received advanced training certificates.

Maria Poptsova

According to Maria Poptsova, Head of the International Laboratory of Bioinformatics and Academic Supervisor of the Master’s Programme ‘Data Analysis in Biology and Medicine,’ the primary goal of the school was to inspire students and early-career professionals to become involved in the crucial and socially impactful field of cardiogenetics. 'The school programme was structured in such a way that aspiring specialists could gain a comprehensive understanding of the entire chain of interconnected tasks, starting from obtaining a genome sequence to designing the actual genetic test for a specific medical condition,' she explains. 'Although it is impossible to fully train someone in cardiogenetics within ten days, this duration is adequate to provide learners with an understanding of the skills and knowledge needed to become a specialist in this field in the future.' The attending group included students of HSE, Moscow Institute of Physics and Technology, the Sechenov and Pirogov medical universities, and Candidates of Sciences in medicine and computer science. 'Thus, learners with varying types and levels of expertise were able to exchange knowledge,' Poptsova notes. 'In contrast to oncogenetics, cardiogenetics is a fairly narrow specialised field that is still in its early stages of development. This is precisely why educational and training events in this area are both timely and pertinent.'

The central component of the programme involved the construction of a cardiovascular panel. Each participant received a patient's genome data and continued to work with it throughout the duration of the summer school, applying their newly acquired knowledge. The classes covered a variety of essential topics for the creation of a cardiovascular panel.

The first track equipped the participants with the necessary knowledge to comprehend the technology behind bioinformatic analysis of NGS data and personalised medicine. It also provided training in generating and visualising reports on quality indicators. Additionally, the attendees acquired foundational knowledge in methods for identifying single-nucleotide variants, small insertions, and deletions. As part of this track, the students were taken on a tour of the Biotechnology Campus and introduced to the '100,000+ Me' Russian Genome Project.

Several classes were dedicated to the exploration of single-molecule sequencing technologies. The school participants engaged in discussions with the instructors regarding methods of optical diagnostics at the single-molecule level, which are employed in biology and medicine. The audience delved into the realm of single-molecule spectroscopy and microscopy, exploring its historical context, physical constraints, and the most effective methodologies. Furthermore, they had the opportunity to witness the real-time optical sequencing of individual DNA molecules.

Pavel Melentyev

Pavel Melentyev, Associate Professor of the Joint Department of Quantum Electronics and Nanophotonics at the RAS Institute for Spectroscopy (ISAN), found the school's multifaceted approach particularly impressive. 'The programme included lectures spanning a variety of scientific disciplines, such as bioinformatics, medicine, biology, physics, and optics,' the researcher noted. 'Additionally, there were hands-on practical sessions and the opportunity to visit actual scientific laboratories dedicated to genomics research and those involved in the development of single-molecule sequencing technology. The diversity of topics did not lead to any inconsistencies, as genetics and sequencing were the overarching themes that united all the lectures. I was truly impressed by the audience—their attentiveness, thirst for new knowledge, and thought-provoking questions.'

A day was set aside for a trip to Troitsk, where the participants embarked on the study tour 'How to Observe a Soaring Nucleotide?' organised by an ISAN laboratory specialising in optical methods of DNA molecule sequencing.

Another track was centred around the exploration of hereditary cardiovascular diseases and cardiogenetic testing. The attending students learned to filter variants based on a specified set of genes linked to cardiovascular conditions.

Dmitry Zateyschikov

'The engaged audience that continued to ask questions for a full 20 minutes following the lecture, the numerous emerging ideas for collaboration—all of these factors suggest that the selected format and topic of the event were immensely successful and warrant replication,' explains Dmitry Zateyschikov, Head of the Department of Internal Medicine, Cardiology, and Functional Diagnostics and Nephrology Course, Doctor of Sciences, and Professor at the Central State Medical Academy of the Presidential Administration.

Alexander Petrov, a participant of the school, finds it difficult to pinpoint the most captivating lecture. 'On one hand, my objective was to delve deeply into gene sequencing data processing, and the organisers made every effort over the course of 10 days to help me progress toward this goal,' he says. 'On the other hand, being a chemist, I found Maria Poptsova's lectures on single-molecule sequencing and the impact of non-canonical DNA structures on gene expression to be particularly interesting. I also enjoyed Dmitry Zateyschikov's lecture, which was my first medical lecture. Most classes I attend at the university are centred around exact sciences, so it was fascinating for me to delve into medical subjects for the first time.'

A key aspect of the summer school was to equip participants with the skills to effectively apply genetic research in practical settings. Therefore, in addition to theoretical study, some time was set aside for students to gain hands-on experience in processing sequencing data using the genome of a patient's digital double. The concluding day was dedicated to the defence of final projects, during which each participant presented the test results of their respective patients.

According to one of the participants, Inna, the final project proved to be one of the most exciting aspects of the programme. 'We had extensive interaction within our group during the preparation, but each participant conducted the final interpretation of the test results individually,' she explained. 'Therefore, it was interesting to listen to fellow participants during the project defence session, track their thought processes, and ask questions regarding their findings.'

The school's in-person format offers a one-of-a-kind chance to meet experts in cardiology and genetics, as well as to forge friendships and share the lessons learned with fellow participants.

Alexander Petrov, a fifth-year student of the Lomonosov Moscow State University's Faculty of Chemistry, was impressed by the school's participants, including both the instructors and the learners. 'They are highly motivated, deeply versed in their field of knowledge, while also capable of captivating conversation on a wide range of topics,' he comments. 'I was impressed by the organisers' idea of enrolling students from various fields, including medicine, biology, chemistry, bioinformatics, and programming. This blend facilitated mutual learning: programmers assisted others in script writing, while biologists explained the concept of genetic crossing-over.'

Inna Chizhikova, of the Bureau of Forensic Medicine, described the summer school on cardiogenetics as an exceptional format of classes that encompassed a wide array of fields, ranging from gene sequencing to the diagnosis of cardiological patients. 'What I appreciated the most was the opportunity to engage in hands-on practice at every stage of the study, with guidance and support from our mentors. I thoroughly enjoyed the tours and the opportunity to interact with experts from related fields who were also part of the school,' she observed. 'For me, the school was a chance to immerse myself in the practical realm of bioinformatics. I am immensely grateful to the organisers, mentors, and lecturers for their warm approach and patience in explaining the fundamentals and correcting our errors.'

September 15, 2023