Find You and Light Up for You|News & Events|Hangzhou Allsheng Instruments

Find You and Light Up for You

Release time：2023-02-28 ALLSHENG

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"Baby panda" (Gaucher Disease, GD), "blue lips" (pulmonary hypertension), "marionette" (Multiple Sclerosis, MS)... These seemingly strange terms are actually the pain of many patients with rare diseases. Most rare diseases occur at the early stage of the patient's life. About 30% of the children will die before the age of 5. If they are lucky to survive, the symptoms will often accompany them for life.

Rare disease is also known as orphan disease because it refers to a rare disease that occurs only in a few people. There is no unified and widely accepted definition of rare diseases. For example, the United States defines rare diseases as: diseases with less than 200,000 people (or less than 1/1500 of the population) each year; Japan stipulates that rare diseases are diseases with less than 50,000 people (or 1/2500 people). There is no clear definition standard in China at present.

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Picture source: network

Thanks to the progress of medical research and technology, more and more rare diseases have been found and treated. As of February 24, 2022, 175 kinds of diseases have been registered in China's national rare disease registration system, with a total of 70,048 registered cases. The main reasons are as follows.

1. It is inseparable from medical research

Medical researchers can discover new rare diseases through case collection and research. For example, researchers have found a rare disease called "KAT6A syndrome", which has only been reported in a few cases. However, researchers have found the characteristics and treatment methods of the disease through gene sequencing and clinical analysis of these patients. [1]

2. Patient's active participation

Patients and family members can help doctors and researchers better understand the characteristics of rare diseases by providing doctors and researchers with detailed medical history and clinical manifestations. At the same time, patients and family members can also participate in the research of rare diseases, for example, by participating in clinical trials to help researchers develop new treatment methods.

3. Application of gene sequencing and big data technology

With the continuous development of gene sequencing technology and big data technology, medical researchers can identify the genetic variation and phenotypic characteristics of rare diseases more quickly, thus finding new rare diseases. For example, a study based on big data technology found a new rare disease - "congenital heart disease, pulmonary artery stenosis, ventricular septal defect".

At present, it has become a trend to use sequencing technology to help find rare diseases. The advantage of NGS technology is that it can make comprehensive and high-throughput genome sequencing, and rapidly generate a large number of genome data. By using NGS technology, we can analyze the sequencing data of patients' genomes and find potential pathogenic mutations, so as to diagnose rare diseases more accurately.

When patients with rare diseases can be found, their treatment problems also need to be solved. Relying on the domestic medical security system and centralized purchase system, relevant departments are also actively creating a convenient medical environment.

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Source: CCTV News

By February 2022, 121 rare diseases have been included in the first batch of rare diseases list, more than 60 rare diseases drugs have been approved for marketing, and more than 40 rare diseases drugs have been included in the national medical insurance drug list. On January 18, 2023, the National Catalogue of Medicines for Basic Medical Insurance, Industrial Injury Insurance and Maternity Insurance (2022) was published. There were seven rare diseases that had been successfully negotiated. Among them, the price of the oral innovative drug Lipolan, which was used to treat spinal muscular atrophy, was cut from 63,800 yuan to 3,780 yuan, with a very large reduction. Previously, the price of a single injection of NSNS, another drug for the treatment of spinal muscular atrophy, was also reduced from 699,700 yuan to 33,000 yuan.

"Share your colors to brighten your life". Patients with rare diseases need the attention and support of the whole society. Allsheng focuses on life science detection and automation solutions, and hopes to contribute to the field of discovery and diagnosis of rare diseases.