Genetics, Equity, and Education: Interview with New ESHG Board Member Manuela Morleo
TIGEM scientific research continues to earn international recognition, exemplified by the recent appointment of Manuela Morleo, our Research Associate and Assistant Professor of Medical Genetics at the University of Campania “L. Vanvitelli”, to the board of the European Society of Human Genetics (ESHG).
Manuela has spent her scientific career at TIGEM, focusing on the genetics and molecular mechanisms of rare monogenic disorders. She holds a PhD in Medical Genetics from the “Seconda Università” of Naples and completed her residency at the University “Cattolica del Sacro Cuore” in Rome. Her research includes gene identification, cilia biology, and functional studies of disease mechanisms.
In recent years, she has been actively involved in the Telethon Undiagnosed Diseases Program (TUDP), a national initiative coordinated by TIGEM that provides a comprehensive framework for diagnosing patients with rare genetic conditions who have remained undiagnosed despite extensive testing. The program integrates clinical evaluations across multiple centers in Italy with advanced genomic technologies, including whole exome and genome sequencing, RNA sequencing, AI-driven variant analysis, and functional validation in cellular and animal models. This multidisciplinary approach not only improves diagnostic yield but also fosters novel gene discoveries and advances in understanding rare diseases.
In this interview, Manuela discusses the significance of her appointment to the ESHG board and the challenges and opportunities she anticipates in her new role.
Congratulations on your appointment! What does joining the board of the European Society of Human Genetics mean to you?
It is both an honor and a responsibility. Joining the Board of the ESHG means taking part in shaping the present and future of human genetics in Europe. As a woman scientist, I am also proud to contribute to gender representation in leadership roles within the scientific community. For me, it is also a way to bring the perspective and experience of Italian research into a broader, international dialogue. It is an opportunity to support initiatives that integrate research, diagnostics, and education in the field of rare diseases and beyond.
What are the main responsibilities of a board member of the ESHG?
The ESHG Board has an important role in shaping the Society’s direction and making sure it keeps up with the changing needs of the genetics community. Board members help guide long-term decisions and are invited to take part in the work of the various committees—such as the Scientific Program Committee, Public and Professional Policy Committee, Education Committee, Strategic Committee, and others. They also act as a bridge between ESHG and national or international networks: helping to build connections, support new ideas, and promote collaboration across the field of human genetics in Europe and beyond.
What do you think are the main challenges currently facing human genetics in Europe?
One of the biggest challenges right now is making sure that everyone across Europe has fair access to genetic counselling and advanced genetic testing. Technologies such as whole exome and genome sequencing are widely used in some centers, but they’re still not uniformly integrated into national healthcare systems.
Another key issue is translating scientific discoveries into tangible benefits for patients—through clear diagnostic guidelines, adequate funding, and collaboration with policymakers.
Education is also critical: genetic counselors and other health professionals need proper training so that genomic information can be confidently used throughout healthcare.
How do you see the role of the ESHG in addressing these challenges at the policy and public health level?
I would like to help strengthen the strategic role of the ESHG as a key player not only in the scientific landscape but also in shaping health policies across Europe. A central goal is to reinforce the connection between research, clinical practice, and healthcare systems. Genomics should be fully embedded in public health strategies—from early diagnosis and screening to the long-term management of rare diseases—and become a standard part of everyday medicine, inclusive and accessible. This integration requires continuous, structured dialogue with national institutions. For example, in countries like Italy, despite a strong scientific tradition and active national societies such as SIGU (Società Italiana di Genetica Umana), there are still significant disparities in access to genetic services. Essential interventions are often concentrated in large academic centers, leaving peripheral or underserved areas behind.
I believe the ESHG can play an important role by collaborating with national societies to identify critical needs and support harmonized strategies.
What are your priorities for supporting the genetics profession and improving care pathways across Europe?
Closely tied to these priorities is the need to invest in education and formally recognize emerging professional roles in genomics. Without structured and accessible training pathways—especially in remote areas—there is a risk that genomic medicine could be monopolized by private actors. The ESHG can play a leading role in setting standards and promoting capacity building across Europe.
It’s also essential to strengthen the continuum between research, diagnostics, and clinical guidelines. An excellent example is the Bardet-Biedl syndrome consensus, developed with several European Reference Networks (ERNs) and published in the European Journal of Human Genetics. This initiative demonstrates how the ESHG can support the creation of shared, high-quality diagnostic pathways for rare conditions, a model I hope to see applied to other diseases.
Finally, I want to invest in the next generation of geneticists by ensuring equal access to scientific opportunities, promoting active involvement in program development, and supporting early leadership and community building—particularly through initiatives like ESHG-Young.
What would you advise a young geneticist who dreams of making an impact in the field?
I would tell them to stay curious, never stop learning, and seek interdisciplinary collaborations. Genetics today is not confined to the lab—it touches on data science, ethics, policy, and patient advocacy. Get involved in scientific societies like ESHG-Y, submit your work, attend workshops, and don’t be afraid to ask questions. The future of our field depends on young voices being heard and supported.
We would like to thank Manuela Morleo for sharing her experience and vision with us. Her new role is not only a well-deserved individual recognition but also an important opportunity to place Italian genetics and represent the Italian Society of Human Genetics (SIGU) at the forefront of the European scientific dialogue.