Work Progress and Outlook of Rare Skin Diseases Team / 罕见病研究

There are many kinds of rare skin diseases, but the research into the diagnosis and treatment of rare skin diseases is relatively scarce. In recent years, the rare skin diseases team has made a series of accomplishments, including establishing the professional committee of Rare Skin Disease Committee of China Alliance for Rare Diseases, establishing China's first Medical Care Alliance for Rare Skin Diseases, launching two national collaborative projects, promoting the project of improving the diagnosis and treatment of rare diseases supported by the Central Special Lottery public welfare Fund, exploring the multidisciplinary diagnosis and treatment model of skin rare diseases, holding academic conferences, and compiling professional books on rare skin diseases. In the future, we will further improve the remote consultation model of rare skin diseases, develop artificial intelligence assisted diagnosis system of rare skin diseases, carry out high-quality clinical research, and improve the overall diagnosis and treatment level of rare skin diseases in China, for the sake of benefiting more patients.

Artificial Intelligence Applications in Rare Skin Diseases / 罕见病研究

In clinical practice, early diagnosis, accurate assessment and effective management of rare skin diseases are difficult. The Big Data gives rise to the exponential growth of biomedical data, including medical images, multi-omics information and electronic health records. Artificial intelligence (AI), particularly machine learning, has its advantage in processing complex and abundant information. Researches have applied AI in the field of rare skin diseases. In this paper, we briefly describe, discuss, and foresee the research on AI based image data, multi-omics data & text data and AI in assisting rare skin disease drug development, in order to improve the awareness of dermatologist understanding of this field and actively promote the development of AI usage on rare skin diseases.

Current Status and Prospect of Orphan Drugs for Rare Skin Diseases in China / 罕见病研究

Rare diseases are characterized by extremely low incidence rate and small number of patients in total. The drugs used to treat rare diseases are called orphan drugs. Currently, 450 kinds of rare skin diseases have been identified, most of which lack in effective treatments. Supported by the policy-making from the country and pushed by all sectors of the society, drugs for rare skin diseases have been emerging continuously recently in China. This paper reviews the current accessibility of the orphan drugs for skin rare diseases that have been approved in China and in other countries and regions for a better understanding of rare dermatosis and orphan drugs for the diseases.