Robin Ely, MD – NGF Founder and Director of the NGF Global Diagnostic and Treatment Initiative – reflects on her visit to Shanghai
Traveling to Shanghai offered an important opportunity to connect with physicians who care for patients living with Gaucher disease and to learn more about the experiences of patients and healthcare professionals in China.
Gaucher disease is a rare inherited lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. Although the disease is uncommon, its impact on patients and families can be significant. Meeting physicians who diagnose and treat Gaucher disease provides a valuable perspective on the challenges of recognizing a rare condition and delivering appropriate, specialized care.
I was invited by Dr. Andrew Lin (Lin Qing in China), Founder and CEO of Lingyi Biotech, based in Shanghai, on an academic visa to visit three Medical Centers/ Hospitals of excellence, each of which had a department devoted to rare diseases with particular emphasis on Gaucher Disease. The population of China is currently over 1.4 billion, and the estimated numbers of potential Gaucher patients is around 10,000-20,000. However, only about 1000-1200 patients with either type 1 or type 3 Gaucher have been diagnosed and a significant number receiving either ERT or SRT.
It was a whirlwind trip during which I visited the three centers located respectively in Shanghai, Guangzhou, and Shanxi provinces. Each center had a dedicated team of Clinicians, nurses, researchers, who deeply impressed me with their dedication, knowledge of such a rarely occurring disorder in China, and great collegial respect and cooperation.
A major highlight for me was meeting with Wang Jun, the founder of the China Gaucher Foundation which has over 800 families from various parts of China. He holds periodic conferences and is in personal touch with the families. I was deeply impressed with the resources that are being brought together to help patients and their families.
Lingyi Biotech is a world class company developing gene therapy for Gaucher Disease. Their work has been featured in numerous global conferences, and it was both an honor and pleasure to get to know the team members advancing this work.
It is my hope to make another trip to China in 2027 to meet more patients, as I only was able to meet several on this trip, but I was happy to see that they were getting better with the treatment regimens they are on.
With all the political goings on in today’s world, it was wonderful to interact and make connections with people who are driven to help heal rather than divide, to cooperate rather than engage in toxic competition, and to help each other’s efforts in a truly heartfelt manner.
