Hereditary epidermolysis bullosa (EB) is a rare hereditary skin disease where the skin forms blisters due to friction or the exertion of external forces. At birth, EB patients suffer pain and blisters that are difficult to heal. Aside from the inconvenience of blisters, patients will suffer problems in other organ systems such as the respiratory and digestive systems. Severe patients will have an increase in the risk of mortality. According to overseas literature, out of a million newborn babies, approximately 20 are EB patients. In estimation, there are nearly 500 EB patients in Taiwan.
NCKU Hospital is a critical medical base with the capability to diagnose and treat EB patients. There are 14 publications related to EB patients in the medical literature database, 13 of which are contributed by the NCKU Medical Center. The genetic diagnosis and counseling are useful for prenatal examination to prevent the birth of severely inflicted EB patients. This research connects with overseas clinical trial results. However, due to the restrictions of conventional gene diagnosis methods and limited research resources, most of EB patients have not received an accurate gene diagnosis.
With support from the Rare Disease Prevention plan of Ministry of Health and Welfare, NCKU Medical Center set up a Skin Pathology & Gene Research Lab to aid 30 Taiwanese EB patients find the disease causing gene. In addition to patients transferred from other Taiwan hospitals, the center conducted genetic analysis for patients from Japan, the Philippines and Mexico. Additionally, we are actively setting up an EB care center in Taiwan offering EB patients holistic health care and conducting various therapeutic clinical trial tests to benefit the patients.
Rare disease research requires close international collaboration. NCKU College of Medicine has hired Professor John McGrath, Fellow of Academy of Medical Sciences (UK) as the visiting chair professor. He lectures in NCKU on a regular basis every year and helps NCKU Medical Center lay down a solid foundation for research and cultivates medical talents of the next generation. Furthermore, EB experts from around the world visit NCKU each year to establish long-term collaborations.
NCKU Medical Center is actively participating in EB charities that combines the forces of good people in society and public interest groups to fight for the welfare of EB patients.