Technical Name The application of next-generation sequencing in the genetic diagnosis of epidermolysis bullosathe establishment of multidisciplinary clinic for epidermolysis bullosa
Project Operator International Center for Wound RepairRegeneration
Project Host 湯銘哲
Epidermolysis bullosa (EB) is an inherited blistering skin diseaseis also one of the most "urgent, severe, difficultrare" diseases. Since there are at least 21 disease-causing genes involved in EB with markedly variable manifestations, it is particularly difficult for accurate diagnosis. In recent years, next generation sequencing (NGS) has been widely applied in the genetic diagnosis of rare hereditary disorders. The EB team in NCKU established the protocol of EB diagnosis by combining NGSvarious tools of pathologymolecular studies. Till now, we have completed the genetic diagnosis for more than 50 Taiwanese EB patients.
Technical Film
Scientific Breakthrough
Traditionally, the genetic diagnosis of EB is made by immunofluorescence studyfollowed by Sanger sequencing for the suspicious genes. However, it is expensive, time-consuming,not in line with clinical needs. NGS can complete genetic diagnosis is a more efficient way. Besides, the genetic background of Taiwanese EB is still unrecognized. We’ve applied whole exome sequencing to identify disease-causing mutationsverified the pathogenicity of the novel mutations by in vitro studies. These results are the stepping stones for the establishment of the Taiwanese EB genetic database in the future.
Industrial Applicability
1. iWRR has spin-offed the Ducolege Biotechnology Co. Ltd., which manufactures the marine collagen as raw material for medical cosmetic products as well as active wound dressing. The marine collagen, free of pigmentfish smell, shows high puritybioactivity. It has excellent biocompatibility, high biodegradability, low antigenicityhigh cell growth potential. 
2. We have established the multidisciplinary clinics for epidermolysis bullosa patients in National Cheng Kung University Hospital,provided a comprehensive platform for patient care, including wound care, itch/pain, nutrition, psychology, ophthalmology, dentistry, cardiology, hematology, etc.
Matching Needs
1. All-exon gene sequencing cooperation
2. Adipose Stem Cell Therapy
3. Cross-industry cooperation with high activitycollagen
4. Cooperation for social educationlife education
5. Practice corporate social responsibility through charity sponsorship
Keyword Collagen Aesthetic Medicine Skin Moisturizing Next Generation Sequencing Epidermolysis Bullosa Artificial Dressing Wound Healing Precision Medicine Regenerative Medicine Translation Medicine
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