Interview with Maria Ester Bernardo (IEWP Chair) and Marina Ben Izhak (IEWP Nurse)
Introduce yourself and your role(s) and position(s) within EBMT and outside of EBMT
Maria Ester Bernardo: My name is Maria Ester Bernardo and I am delighted to be the current Chair of the Inborn Errors Working Party of the EBMT.
I am based at San Raffaele Hospital in Milan. I am a paediatrician and a transplant physician and I always combined clinical activity with translational research in my professional path. I currently hold the roles of Responsible for the Paediatric Transplant Unit at the San Raffaele Hospital and Associate Professor of Paediatrics at the San Raffaele University Medical School. In addition, I am a Group Leader in my research Institute, the San Raffaele- Telethon Institute for Gene Therapy (SR-Tiget). My clinical focus is predominantly on hematopoietic stem cell transplantation (HSCT) in paediatric patients and particularly on hematopoietic stem cell-gene therapy (HSC-GT) for rare genetic defects.
Marina Ben Izhak: My name is Marina Ben Izhak. I am the IEWP Nurse. Outside of the EBMT, I have been working for the past 17 years in the Bone Marrow Transplantation (BMT) Unit at Hadassah Medical Centre in Jerusalem. In the past year, I have been working as the BMT Coordinator Nurse for both paediatric and adult patients undergoing stem cell transplantation.
Our centre combines care for both paediatric and adult patients undergoing hematopoietic stem cell transplantation for a wide range of malignant and non-malignant diseases. I am particularly involved in patient care coordination, developing nursing protocols, providing patient education and counselling, and training new nursing staff in the field of transplantation.
Recently, I passed the national certification exam as a Nurse Practitioner in Haematology and Bone Marrow Transplantation — a pioneering role that is still in its early stages of development in Israel.
I hope to further develop this new role and promote advanced nursing practice in the transplant setting.
What are the main activities - in terms of research and education - that your Working Party has been leading? And is there a memorable project that you would like to highlight?
Maria Ester Bernardo: We are a very active WP, covering HSCT and cellular therapies for several indications under the umbrella of ‘inborn errors’, including congenital immunodeficiencies, HLH, metabolic disorders. Regarding novel and emerging therapies, HSC-GT is one of the focuses of the WP, being tested in parallel with standard of care, represented by HSCT, in several inborn errors.
We are very effective in organising educational activities and training programmes such as the IEWP Annual Meeting and the IEWP Spring School, this latter being dedicated to colleagues in training as well as those from centres with less experience in patients with inborn errors. Over the last years, the WP has led the definition of guidelines for transplantation in inborn errors and we are currently updating these guidelines which will appear soon in a manuscript in Bone Marrow Transplantation. We have a large portfolio of retrospective studies across all disease groups where we analyse transplant outcomes thanks to the support of the EBMT Registry.
Together with the IEWP Secretary, Claire Booth, we are currently working at new activities within the WP, including establishing a Junior’s Committee, made up of young and active doctors from several European Centres who represent the next-generation of transplant physicians, and a Nurse’s Group, formed by nurses specialised in the management of children with inborn errors. These two new groups will create important opportunities to exchange knowledge and experiences, and promote further collaboration among IEWP centres.
Marina Ben Izhak: IEWP is leading several research projects in the field of Inborn Errors as well as educational initiatives and training programmes for junior staff. As part of my role as the IEWP Nurse, I am mostly involved in educational activities. At present, we are working on planning the nurses’ programme for the upcoming IEWP Annual Meeting. This will be an important opportunity to exchange knowledge, present nursing experiences and promote further collaboration among nurses in this field.
And are you facing any challenges or trends within your field that are affecting any current/on-going projects within your Working Party?
Maria Ester Bernardo: We encounter several challenges in the clinical and transplant management of children with rare diseases. Sharing these challenges with colleagues from the WPs is key to advance the field and highlights the importance of close collaboration and effective knowledge sharing between centres. This ability to share and collaborate is one of the strengths of our WP.
A general challenge that EBMT is encountering is the migration of the Registry database which requires time and a big effort from the EBMT office. However, this will allow us to perform more detailed and informative studies in the near future.
Marina Ben Izhak: There are several challenges in the field of inborn errors. First, we care for children with rare and sometimes extremely rare diseases. This highlights the need for close collaboration and knowledge sharing between centres and across countries, as well as the need for specialised training for nursing staff.
Another important aspect is that these children often have not previously received chemotherapy. For many families, this is their first experience with such treatments and with the bone marrow transplantation process, which requires a high level of support, education, and communication from the nursing team.
This requires detailed education and thorough explanations about potential side effects and how to manage each stage of the transplant journey. The nursing team plays a key role in guiding and supporting patients and families throughout the entire process.
What are your main goals in the near future?
Maria Ester Bernardo: One of our main goals is to complete the existing studies and have them presented at congresses and published in high-ranking scientific journals. At the same time, we would like to start new interesting studies which are already under consideration. We are also working on collaborative studies across more WPs of the EBMT and in collaboration with other Scientific Societies to strengthen our capacity to attract scientific interest and to perform valuable scientific projects.
Another key activity is represented by the organisation of educational events in collaboration with other WPs to reinforce our interaction and provide high-quality scientific content. An example is represented by the collaborative meeting with ESID and APSID to be held in Abu Dhabi in May 2026 on ‘Disreactive, Autoinflammatory and Autoimmune Diseases’. The WPs of the EBMT directly involved are IEWP, PDWP and ADWP. This is a very stimulating experience which allows to put together an exciting scientific programme and to exchange experiences and competencies with colleagues from all over the world.
Two central goals for the near future of the WP are certainly the creation and development of the IEWP Junior’s Committee and the IEWP Nurse’s Group, as explained above.
Marina Ben Izhak: In the coming period, I have two main goals. First, to further develop the Nurse Practitioner role in haematology and bone marrow transplantation within my department. In the future, I also hope to take part in shaping the training programmes for future teams in this field. The second goal is to help build and develop a network of nurses working in the field of inborn errors. The aim is to promote collaboration, knowledge and experience sharing in this very specialised area, and to develop nursing guidelines that can support our daily practice.
Can you tell us what membership of your Working Party looks like? What do members of your Working Party get to do?
Maria Ester Bernardo: We are a diverse group of experts in inborn errors of immunity, haematopoiesis and metabolism, transplant physicians, young and motivated trainees, nurses and research nurses, data managers and statisticians who all contribute to the intense scientific activities of the WP. I am convinced that the two newly created committees, the Junior’s Committee and the Nurse’s Group, will bring further energy to the WP and will stimulating exciting scientific activities.
We run regular meetings and educational events, such as the IEWP Annual Meeting and the Spring School, where junior and senior members meet and share knowledge discussing the most recent advances in the field.
Marina Ben Izhak: I’m honoured to be part of the Inborn Errors Working Party as the nurse. This group brings together professionals who are passionate about improving care for patients with inborn errors through collaboration, education, and research. We meet regularly online and in person to exchange knowledge and set shared goals. One of my main goals is to strengthen the nursing role within IEWP by developing a network of nurses, creating joint educational resources, and encouraging nurse-led projects.
What would you like to say to encourage young investigators / trainees to join your Working Party?
Joining the IEWP is a unique opportunity to grow scientifically and professionally. Young investigators and trainees will have the chance to be part of a vibrant and stimulating scientific community, working alongside experts in the field of inborn errors and stem cell transplantation. The IEWP offers invaluable opportunities for collaboration, mentorship, and involvement in impactful clinical studies and guidelines. It’s an ideal environment to learn, contribute, and help shape the future of patient care in this rapidly evolving area. So, come join us!
Marina Ben Izhak: I would warmly encourage young investigators and nurses in training to join the Inborn Errors Working Party. To be part of the IEWP is to join a dedicated community that continuously works to enhance the quality of care for patients with inborn errors, through collaboration, innovation, and shared expertise.
Please e-mail iewp@ebmt.org if you want to get involved.