What is the industry shift brought about by the official launch of the rare disease list for the first time?

On May 22, 2018, the "First Uncommon Diseases Catalogue" jointly issued by the National Health and Health Commission, the Ministry of Science and Technology, the Ministry of Industry and Information Technology, the State Food and Drug Administration, and the State Administration of Traditional Chinese Medicine was officially released, including 121 rare species. disease!

After learning this news, the industry and the outside are very happy, because compared with common diseases, the level of related medical research on rare diseases in China has lagged behind, and the understanding of the pathogenesis of many rare diseases is limited, and the diagnostic methods are insufficient. The effective treatment method, the official directory of the authority, will provide a direct basis for China's rare disease research, drug registration review and medical insurance, and will also bring new hope to families of patients with rare diseases.

Rare diseases are also known as "orphan diseases". According to the definition of the World Health Organization (WHO), rare diseases are a general term for a class of diseases in which the number of patients accounts for 0.65 ‰ to 1 总 of the total population. At present, there are more than 7,000 rare diseases that have been identified, of which about 80% are caused by congenital genetic defects.

It is worth noting that there are many kinds of rare diseases, and the symptoms between different diseases are also different. The particularity of rare diseases causes even the same disease, and the performance between different patients may be very different. Increased the difficulty of timely diagnosis of rare diseases.

At present, the effective treatment of rare diseases is extremely limited, and most of them can only relieve pain and cannot cure the disease. The way to reduce rare diseases is still based on prevention. Pregnancy families can start from pre-pregnancy screening, prenatal screening, and newborn screening, and do a good job in all tests. Prenatal screening and prenatal diagnosis are the key points. . Once a rare disease is born to the onset, only a small percentage of the disease can be compensated, and very few can be alleviated or cured.

Most rare diseases are genetic diseases, and the cause is derived from the genetic level. Therefore, compared with other diseases, the detection of rare diseases depends more on genetic testing. Whether it is disease classification or precise diagnosis, genetic testing will have more significant effects. .

It is true that genetic testing plays an important role in the prevention, diagnosis and treatment of rare diseases, but the current expensive genetic testing is not affordable for every family, which is also a subsidy policy that the country may introduce. A big burden.

Most of the more effective rare disease screening methods are through clinical all-exon sequencing, but this sequencing method determines its expensive testing cost and long detection period. Clinical promotion is also more difficult. After all, for most patients, the cost of tens of thousands of inspections is unbearable.

Now, it is possible to develop a corresponding diagnostic panel for a certain type or several types of rare disease-related genes, and use targeted sequencing to check, on the one hand, the inspection cycle can be greatly reduced, and the test results can be fed back at the fastest speed. In the hands of patients, on the other hand, it can reduce the cost of testing, allowing people to do more effective genetic testing with as little money as possible.

Qihui Bio is based on the core technology of EMS-LibTM multiplex PCR one-step method. The flexible Panel customization service provided by the industry can meet this demand. It only needs to provide the target gene name or specific region of the genome, which can be quickly as needed. Customize the Panel and complete product delivery in the shortest time (40 business days).

As a technology platform-based biotechnology company, Qihui Biotechnology is committed to the independent innovation and localization of biomedicine and clinical detection reagents, breaking the barriers controlled by importers in the upstream industry, controlling and reducing the cost of genetic testing, and making biotechnology truly Service and market with demand. Among them, rare diseases are an important area that our technology platform pays close attention to, in addition to the developed SeqCaresTM single-gene genetic disease genetic testing kit, which includes albinism, hemophilia, Wilson's disease, Duchenne muscular dystrophy, etc. In addition to the rare diseases of 21 Asian populations, there has been an effort to raise awareness of rare diseases .

With the implementation of various policies, the pace of construction in the field of rare diseases in China is expected to accelerate. We hope to leverage our technological advantages in gene-targeted sequencing to contribute to the prevention and diagnosis of rare diseases. I hope that I can connect with colleagues in the pharmaceutical industry and work together to make our country's rare diseases better.

Now, in the custom-designed Panel of Qihui Bio-platform, the fee is not only open and transparent, but also low in the industry (only the development cost is paid according to the number of amplicon, and the reagent fee is paid by the number of copies in the finished product delivery stage). The officially released catalogue of rare disease-related genes, the overall price will be given a 5% discount , hoping to improve the quality of life of our rare patients in China, and increase the quality of life of patients with rare diseases in China

Earlier, the country has raised “healthy China” to a strategic height and included rare disease research into the “13th Five-Year Plan” national key research and development plan. It is believed that rare diseases will be more and more valued by the government and the public, and social resources will be more inclined to them.

"The active help of rare diseases is a manifestation of the degree of civilization of a country." In this information age, every transfer and sharing is a force, which will make people pay more attention to rare diseases.

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There are two types of dietary fibre - soluble and insoluble - and sweet corn contains both.
According to the American Heart Association, dietary fibre as part of an overall healthy diet helps to lower blood cholesterol levels and may reduce the risk of heart disease. It is insoluble fibre that binds to cholesterol, preventing it from being absorbed into the bloodstream.
Insoluble fibre is responsible for promoting regularity and helping to prevent constipation by speeding up the passage of food and waste through the intestines and absorbing water to keep stools soft. Insoluble fibre has been shown to reduce the risk of haemorrhoids.
Fibre-containing foods such as sweet corn also help to provide a feeling of satiety and may therefore help to suppress appetite and aid weight management.
Dietary fibre has also been linked to a reduced risk of type 2 diabetes. A diet rich in fibre helps patients manage their disease.
Fibre is fermented by bacteria in the colon. Promising studies are underway to determine the health-promoting effects of fibre fermentation breakdown products, for example, short-chain fatty acids, which may help to maintain a healthy gut.

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