Genevieve Gucci Grace Capispisan Uy is a research fellow at the National Center of Neurology and Psychiatry, Department of Neuromuscular Research in Kodaira, Tokyo.

After studying medicine at the University of Santo Tomas, Philippines, and finishing her residency training in adult neurology at St. Luke’s Medical Center, Philippines, Genevieve moved to Tokyo to take up her research fellowship.

It was Genevieve’s mentor, Dr Raymond Rosales, who inspired her to pursue myology. Genevieve says: “During my residency training in adult neurology, I encountered a patient with suspected dermatomyositis. This sparked my interest in neuromuscular diseases, because not all my attendings knew how to diagnose and manage the case.

“There was only one attending physician who was knowledgeable about inflammatory myopathies and knows how to do muscle biopsy. It was during that time when I felt that there was a need to have more experts in the field, especially from my country.

“The possibilities are endless now that we are in the molecular era, and I think that this is exciting. It gives me hope that we will be able to find answers and hopefully even a cure in even the rarest neuromuscular disorder.”

Genevieve’s current interest is in pursuing possible therapy for hereditary muscle diseases and, as a research fellow, she is involved in finding underlying genetic pathomechanisms behind neuromuscular diseases which can contribute to future treatment.

When speaking about how her future work will help patients in her country, Genevieve says: “I think being able to give the proper diagnosis to a neuromuscular disease patient will improve some outcomes. There are patients with treatable myopathies who are misdiagnosed or who seek consultations late in course of their illness, so by the time they are seen by a specialist, there is already irreversible damage. I hope to help those patients in my country.

“Since expertise in the field is very little, it is difficult for local doctors in my country to know diagnostic tools that can help them in their dealing with neuromuscular disease patients. Genetic studies are also mostly sent out to other countries which is also expensive for patients who have limited funds.”

Genevieve’s plan is to go back to The Philippines and help set up a neuromuscular disease referral center. She also plans to continue to do research even after her training in Japan. She hopes to apply everything that she will learn to help her countrymen and women.

Genevieve hopes to spread knowledge and enthusiasm for myology throughout her region, saying: “There are only a few of my colleagues who are interested in myology in my region. Hopefully when I get back to my country, I can inspire more doctors to choose this exciting field.

“International collaboration is important especially for MDs from a developing country like me because we will be able to learn from doctors who are more knowledgeable and experienced. This platform will definitely guide doctors who are new to this field.

“Networking empowers myologists to gain insight from other experts. Networking is important in any field because we need a broader perspective to become more knowledgeable about anything.