Scientific Contribution and Global Collaboration in Rare Disease Diagnostics
February 27, 2026
In recognition of Rare Disease Month, our laboratory highlights over 30 years of scientific contribution to rare disease diagnostics and our ongoing commitment to international medical collaboration.
This month, we contributed to confirmed diagnoses for patients from Japan, China, and India with conditions such as urea cycle disorders, glutaric aciduria type I, HMGS2 deficiency, Lysinuric protein intolerance(LPI), methylmalonic acidemia, and homocystinuria, advancing cross‑border medical support for individuals with rare diseases.
Dr. Zhang and Prof. Murayama from Juntendo University were also invited to the Rare Disease Month academic activities at Peking Union Medical College Hospital, where delivered a lecture presenting research findings and laboratory test outcome. The accompanying photo captures a moment of active exchange with local clinicians and researchers, sharing challenges in rare disease medicine and exploring new opportunities for collaboration. Through these international dialogues, we further strengthened cooperative frameworks aimed at improving rare disease care and reaffirmed our mission to contribute to public‑interest medical practice grounded in scientific evidence.
Collaborative discussion with medical professionals at PUMCH, highlighting shared efforts to improve rare disease diagnostics worldwide.

