Interview with Prof. Dr. Tomoko Lee—Winner of the IJNS Best Presentation Award 2024

1. Could you please introduce yourself?

I graduated from Kobe University School of Medicine in 2005 and completed a doctoral program at the Department of Pediatrics at Kobe University Graduate School of Medicine in 2014. Currently, I serve as an associate professor of pediatrics at Hyogo Medical University. My areas of expertise include pediatrics, newborn screening, congenital metabolic disorders, neuromuscular diseases, and genetics.

2. Can you briefly introduce your experiences in newborn screening and tell us what inspired you to start a career in newborn screening?

As a pediatric clinician, I have been involved in newborn screening for about 15 years. The importance of presymptomatic diagnosis through newborn screening has made a strong impression on me, particularly through my experiences treating many patients with congenital metabolic disorders.

3. What is the current status of newborn screening in Japan?

The field of newborn screening has been developing rapidly, especially within the last decade. In Japan, newborn screening has expanded and started to include previously untreatable diseases such as spinal muscular atrophy and lysosomal storage diseases.

4. Could you please briefly introduce the main content of your winning presentation?

We introduced the possibility of establishing newborn screening for late-onset proximal urea cycle disorders, through a prospective pilot study in Hyogo Prefecture, focusing on low citrulline levels. Over a period of approximately three and a half years, citrulline values ​​were examined in more than 100,000 newborns, and the background linked to low citrulline values ​​was clarified. In addition, we identified one patient with late-onset carbamoyl phosphate synthetaseⅠ(CPS1) deficiency, which suggested that low citrulline values ​​may be a screening marker.

5. Can you share any advice for young researchers who are just starting out in the newborn screening field?

We are entering an exciting new era in this field, so I strongly encourage young researchers to jump in. Their contributions will be invaluable in the coming years.

6. Do you have any suggestions for our journal regarding how we could further support young researchers and the academic community?

I am very happy to receive the Best Presentation Award, as it will keep motivating me for my future research. I think that awards such as the presentation award, article award, and travel award are highly encouraging for young researchers.