Scientific careers at TIGEM: research into rare genetic diseases

At TIGEM, PhD students and postdocs grow in an international environment through mentoring, advanced training and European research programmes.

Building a scientific career means much more than entering a laboratory. It means learning how to ask questions, design experiments, interpret complex data, engage with more experienced researchers and gradually develop one’s own independence. In a field such as rare genetic diseases, this journey takes on an even deeper meaning: training new researchers means contributing to the growth of a scientific community capable of turning biological knowledge into new perspectives for patients.

At TIGEM – the Telethon Institute of Genetics and Medicine in Pozzuoli, this vision has shaped research from the very beginning. The institute was not created only as a centre dedicated to studying the genetic and molecular mechanisms underlying rare diseases, but also as an environment designed to support the growth of new generations of scientists. PhD students, postdocs and young researchers are welcomed into an international, multidisciplinary and highly formative setting, where day-to-day laboratory work is combined with structured training programmes, seminars, specialist courses, mentoring and opportunities to engage with European scientific networks.

“Since its earliest years, TIGEM has not only been a research institute, but also a place with the ambitious goal of training the researchers of the future” explains Dr Valentina Bouchè, member of the TIGEM Scientific Office. “Training has always been one of the core dimensions of the institute: it is not only about using advanced tools and working at the state of the art of research, but also about contributing to the education of the future generation of researchers”.

The growth journey at TIGEM often begins with a PhD, a decisive stage in which theoretical training is combined with direct experience in the laboratories. Joining a PhD programme connected to TIGEM means entering an environment where the scientific project is never separate from the gradual development of skills, independence and critical thinking.

PhD students are supported from the earliest stages: from selection to entering the laboratories, including an initial period of lab rotations in which they can experience different research groups before choosing the most suitable one, through to project definition, international experiences, specialist courses and cross-cutting training activities. It is a model designed to train researchers who are able not only to carry out experiments, but also to understand their rationale, discuss their results and place them within a broader scientific trajectory.

The main PhD pathways connected to TIGEM are developed through collaborations with external schools and academic institutions. These include SEMM – the European School of Molecular Medicine, a PhD programme active since 2004 and now recognised as a national-interest PhD. “SEMM is a PhD programme that has existed since 2004 and today involves several Italian universities and research institutes, including TIGEM and Fondazione Telethon” explains Dr Valeria Rotoli, member of the TIGEM Scientific Office, who has been involved in PhD training for more than twenty years. “My role is to act as a link between the different institutions, following the whole process: from the call and applications through to pre-selection, the competition and the enrolment of PhD students”.

Another pathway is offered by SSM – Scuola Superiore Meridionale, a higher education institution based in Naples that hosts the GEM – Genomic and Experimental Medicine programme. As with SEMM, this is a four-year PhD programme delivered entirely in English, from lectures to examinations. The international dimension is therefore embedded in the training pathway from the outset: not only because many candidates come from different backgrounds and experiences, but also because the language, activities and scientific standards are designed to prepare young researchers to operate within a global scientific community.

Alongside these pathways is Rarefind, a European PhD programme co-funded through the Marie Skłodowska-Curie Actions and coordinated by Fondazione Telethon, whose academic partner is IUSS Pavia.

Scientific training does not end with courses, seminars or structured programmes. At TIGEM, a decisive part of growth takes place through day-to-day work in the laboratory, in close contact with senior researchers, supervisors and Principal Investigators. It is within this continuous relationship – made up of experiments, discussion of results, mistakes, corrections and new hypotheses – that young researchers gradually learn to build their own independence.

The laboratory thus becomes the place where theoretical knowledge is transformed into scientific method. It is not simply a matter of acquiring techniques or protocols, but of learning how to formulate an experimental question, choose the most appropriate approach, read data critically and understand when a result opens up a new research direction. In this sense, mentoring is not just supervision: it is a genuine scientific imprinting.

“No training can truly teach you how to conduct experiments and develop a scientific and experimental mindset except bench work, in close contact with a more senior researcher or with your own supervisor” underlines Valentina Bouchè. “That is where the most important imprinting takes place”.

This direct relationship is one of the elements that makes the TIGEM pathway particularly formative. Young researchers are guided in building their projects, while at the same time being encouraged to develop critical thinking, independence and responsibility. Supervisors do not simply tell them what to do: they help them understand why an experiment is designed in a certain way, how to interpret its results, which limitations to consider and how to place their work within a broader scientific question.

The presence of Principal Investigators further strengthens this dimension. PIs are not only responsible for research groups, but also act as reference figures for the scientific growth of young researchers. Through interaction with them, PhD students and postdocs come into contact with the way a research line is built, a grant is written, a group is managed, international partners are engaged and a project is carried forward in a complex field such as rare genetic diseases.

Alongside more traditional scientific training, TIGEM has progressively strengthened courses dedicated to complementary skills: the cross-cutting skills that complete a researcher’s profile. Today, a scientific career requires much more than the ability to produce good data: researchers must be able to present those data, discuss them, turn them into publications, include them in funding proposals and communicate them effectively to different audiences.

Training pathways therefore include activities dedicated to presenting results, public speaking, scientific paper writing and grant writing. These are essential skills for those who wish to continue in academia, but also for those imagining a future in different contexts, from the biotech industry to translational research and scientific project management.

Part of the training is also dedicated to professional orientation: writing a CV, preparing for an interview, approaching a job application and understanding which skills to highlight depending on the desired career path. “We try to accompany PhD students from the earliest stages of their growth through to the final moments of the pathway, when they need to prepare for the next phase of their career,” explains Bouchè. “This may mean continuing in academia, but also approaching the world of industry or other professional opportunities”.

In the context of biomedical research, some cross-cutting skills also take on particular importance. At TIGEM, regulatory aspects and issues related to the GDPR, the management of sensitive data and the handling of information from patients’ cells, sequencing and human material are also addressed. This area clearly shows how the training of today’s researcher must integrate scientific skills, ethical responsibility and regulatory awareness.

Scientific growth at TIGEM does not end with the PhD. In recent years, the institute has also started to structure the postdoc pathway in an increasingly targeted way. This is a crucial stage in a researcher’s career: the moment when advanced skills are consolidated, greater scientific independence is developed and one’s professional trajectory begins to take clearer shape.

If the PhD is the stage in which researchers learn how to become researchers, the postdoc is often the stage in which they learn how to become independent scientists. For this reason, it requires different tools: not only technical training, but also career orientation, the ability to design original research lines, engagement with international networks and awareness of the opportunities available both inside and outside academia.

To respond to these needs, TIGEM has supported the creation of a Post-Doc Association, designed as a space for discussion, organisation and growth for researchers in the postdoctoral phase. Through this association, postdocs can contribute to the development of training activities that are closer to their needs and take part in organising courses, workshops and moments of in-depth discussion.

“Over the past couple of years, we have launched a pathway aimed at researchers who have already completed the PhD phase and are now in the next stage, the postdoc phase,” says Valentina Bouchè. “We have given them the tools to organise themselves into a Post-Doc Association and, together with them, we are building dedicated training and career development activities”.

This pathway is still developing, but it represents a strategic step. It means recognising that training is not only about entering research, but also about accompanying the different transitions of a scientific career: from PhD to postdoc, from postdoc to possible independence, and towards the development of profiles capable of leading projects, groups and international collaborations.

The international dimension of training at TIGEM finds one of its most important expressions in Rarefind, a European PhD programme co-funded through the Marie Skłodowska-Curie COFUND Actions. Launched as a TIGEM initiative and then developed together with SR-TIGET, Rarefind is dedicated to training a new generation of researchers in the field of advanced therapies for rare genetic diseases.

“Rarefind was created as an international training programme on advanced therapies,” explains Bouchè. “We obtained European funding for 22 PhD fellowships, distributed over two years, which will allow young researchers to train within our institutes and work on topics closely connected to Telethon’s mission”.

Rarefind PhD students will be integrated into an already structured pathway: courses, training, educational activities, initial laboratory rotations and subsequent definition of the research project. A particularly relevant element is the possibility of undertaking secondments, periods of training and research in a context other than the home institution. TIGEM PhD students will be able to spend a period at TIGET and vice versa, depending on the needs of the project and the collaborations between the groups. Secondments may also take place with industrial partners in the Telethon ecosystem, including spin-offs and biotech companies, giving young researchers initial exposure to the world of scientific enterprise.

Alongside Rarefind, TIGEM also participates in Beyond, a European programme dedicated to postdocs and advanced therapies. In both cases, the result is the strengthening of a Telethon network capable of attracting young researchers at different stages of their scientific careers.

“Beyond is designed for researchers who have already completed their PhD and who propose a scientific project consistent with the laboratory they are interested in,” explains Bouchè. “It is a pathway that is more fellow-oriented, because the postdoc enters a phase in which they need to start building their own scientific independence”.

Both Rarefind and Beyond also follow a key rule of Marie Skłodowska-Curie fellowships: mobility. This element encourages the circulation of different skills, approaches and research cultures, strengthens the institute’s international dimension and helps make TIGEM a place where young scientists from different backgrounds can meet, train and contribute to a shared mission: developing knowledge and new therapeutic strategies for rare diseases.