Dr. Shinya Yamamoto Earns International Distinction for Rare Genetic Disease Research

For over a decade, Dr. Shinya Yamamoto, a researcher at the Duncan Neurological Research Institute (NRI), has used fruit flies to help unlock the mysteries of rare genetic diseases.

His work is now earning global recognition.

Dr. Yamamoto was recently named as a 2025 NISTEP Selection honoree by Japan’s National Institute of Science and Technology Policy (NISTEP). This international distinction recognizes 10 researchers worldwide whose discoveries are shaping the future of science and medicine. Since the program began in 2005, honorees have included scientists whose work has led to major advances in research and patient care.

In this year’s cohort, Dr. Yamamoto is the only U.S-based researcher selected.

Dr. Yamamoto’s path to this recognition began with a simple but powerful idea: studying human disease through model organisms that share many of the same genes. By creating fruit-fly models that mimic human genetic mutations, his team can identify which gene variants cause disease and better understand how those conditions develop.

That work has helped researchers and clinicians uncover answers for children and families affected by more than 70 previously unknown disorders, turning uncertainty into understanding and opening doors to potential treatments.

“Shinya’s journey with rare diseases started more than 15 years ago when he conducted a brilliant genetic screen to identify genes driving neurodegeneration,” said Dr. Huda Y. Zoghbi, founding director of the Duncan NRI. “This work inspired a broader approach to modeling human mutations in the fruit fly and has helped us bring answers to children suffering from previously unknown disorders. I could not be prouder or more appreciative of him and his abilities.”

In addition to discovering new genetic disorders, Dr. Yamamoto has built collaborative bridges between scientists and clinicians around the world. His work continues to advance understanding of rare diseases as well as more common neurological and developmental conditions, including autism and neurodegenerative disorders.

“It is a profound honor to receive this recognition through the support of fellow scientists in Japan,” Dr. Yamamoto said. “I hope it helps people better understand how research using fruit flies can advance healthcare and raises awareness of rare and undiagnosed diseases.”

For team members across Texas Children’s, this recognition reflects the spirit of discovery that drives our hospital’s mission every day. Dr. Yamamoto’s work reminds us that innovation often starts with curiosity, grows through collaboration and ultimately leads to hope for the children and families we serve.

Please join us in congratulating Dr. Yamamoto on this well-deserved international honor and thanking him for the inspiration he brings to our community!