26/03/2026
🦚We are so proud🦚
Our Deputy Editor, Prof. Robert Śmigiel, discusses his work [ENGLISH VERSION BELOW THE LINK]
https://www.umw.edu.pl/pl/aktualnosci/pracujemy-dla-dobra-ludzi
1. Role at Wroclaw Medical University
Head of the Department and Clinic of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases at Wroclaw Medical University; Head of the University Center for Rare Diseases in Wroclaw; Deputy Editor-in-Chief of Advances in Clinical and Experimental Medicine; specialist in pediatrics, clinical genetics, neonatology, and metabolic pediatrics.
2. Main research interests
My research focuses on genetically determined rare diseases, developmental disorders, congenital anomalies, and metabolic diseases in children. This includes studies on etiology, pathogenesis, diagnostics, and therapeutic management, including precision medicine approaches. I am also interested in the causes of intellectual disability, including prenatal teratogenic factors affecting the fetus, such as fetal alcohol spectrum disorders.
3. Why did this field become the most important to you?
Rare diseases affect approximately 8% of the population—around 30 million people in Europe and 3 million in Poland. They are among the most common causes of hospitalization and a leading cause of infant mortality. This represents a medical, social, and economic challenge that significantly impacts entire families.
My sustained clinical and scientific focus on pediatrics, my personal values, early social engagement in support groups for people with disabilities, and a desire to connect scientific outcomes with societal benefit—along with a degree of chance—led me to focus on the underserved and often marginalized field of rare diseases in children.
The outcomes of my work include: identification of new human diseases causing developmental disorders; elucidation of pathogenic mechanisms and therapeutic targets; shortening diagnostic pathways for patients with rare diseases; development of diagnostic and therapeutic recommendations; improving quality of life for patients and their families; establishing parent-led organizations; organizing conferences; identifying family needs; and disseminating knowledge and training healthcare professionals.
4. Which of your achievements do you consider the most groundbreaking or inspiring?
One of the most groundbreaking achievements for me was the description of a new neurodevelopmental rare disease in a newborn with severe peripheral and central nervous system involvement, along with the identification of a novel pathogenic pathway in human development (involving the gene neurofascin – NFASC). I also consider my contribution to developing international recommendations in rare diseases, in collaboration with global scientific and clinical experts, to be highly significant.
5. Which discovery, idea, or publication has most influenced your scientific thinking?
The idea that science should directly benefit patients with rare diseases has been fundamental to my thinking. The work on defining phenotypes of rare diseases in children, collaboration with parent organizations, and the empathy toward patients demonstrated by Professor Raoul Hennekam (Amsterdam) have been a constant source of inspiration.
A particularly influential publication for me was:
Hennekam RC, Biesecker LG. Next-generation sequencing demands next-generation phenotyping. Hum Mutat. 2012;33(5):884–886.
6. How can your research impact everyday life or the development of technology/society?
The key contributions of my work in rare diseases include:
Defining new and redefining known rare diseases in terms of their pathogenic mechanisms
Advancing knowledge of human biology and potential therapeutic strategies
Developing clinical recommendations and guidelines (e.g., for Mowat-Wilson syndrome, Pitt-Hopkins syndrome, Schaaf-Yang syndrome, Prader-Willi syndrome, Down syndrome, Kabuki syndrome, 22q11.2 deletion syndrome, fetal alcohol spectrum disorders (FASD), congenital disorders of glycosylation (CDG), and other ultra-rare syndromes)
Improving care for children with rare diseases and developmental disorders at both national and international levels
Supporting the creation and education of patient and parent organizations through meetings and conferences
The beneficiaries of my research include:
Primarily the 3 million people in Poland affected by rare diseases and their families
Healthcare professionals working with these patients (physicians, nurses, therapists, dietitians, psychologists, public health specialists)
Policymakers at various institutional levels, who rely on scientific data to improve healthcare systems for rare disease patients
7. If you had unlimited resources and a team, what project would you pursue?
My scientific, clinical, and social ambition is to develop precision medicine approaches for rare diseases, including discovering new targeted therapies and advancing gene therapy.
8. One piece of advice for young people considering a scientific career
Science that serves people is my passion and motivation. Science exists for the benefit of humanity—never lose sight of that. Throughout your scientific journey, remember that we work for the good of others, and remain socially sensitive in your research.
Uniwersytet Medyczny im. Piastów Śląskich we Wrocławiu
Robert Stanisław Śmigiel
Donata Kurpas
Advances in Clinical and Experimental Medicine
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