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Photo: Huang Rufang, director of the China Rare Disease Development Center, is a patient with congenital achondroplasia.
Can the rescue of rare diseases rely on the "ice bucket challenge"? Now this group has abandoned the traditional point of finding tears, looking for the moving mode, and entering the real era of joint exploration.
On September 18, 2015, the 4th China Rare Disease Summit, hosted by the Center for the Development of Rare Diseases (CORD), opened in Beijing. As the most important meeting of the rare disease group every year, more than 400 people from government, hospitals, foundations, and enterprises have discussed topics such as “diagnosis of rare diseasesâ€, “orphan drugs and market accessâ€.
Langerhans cell histiocytosis, Angelman Syndrome, Kennedy Disease... Everyone at the meeting table has a name for a rare disease. Postcards, most of these diseases have never been heard. The World Health Organization defines a rare disease as a disease or disease that affects between 0.065% and 0.1% of the total population. About 80% of rare diseases are caused by genetic defects. More than 10 million people with rare diseases in China.
Huang Rufang, director of the Center for Rare Disease Development, is a patient with congenital achondroplasia. He pointed out that among the 7,000 rare diseases known to humans, scientists know very little, less than 5% of the world's effective therapeutic drugs; less than 20% of countries with rare disease legislation, excluding China. There are almost no medical research funds for rare diseases in China. There is no special management department, there is no complete market access incentive mechanism for rare diseases, and there is no national medical insurance. Even the definitions and lists of rare diseases are not available.
"This is the worst era." Huang Rufang and his patients were desperate. To this end, he announced a plan at the meeting to create the world's largest Chinese rare disease encyclopedia.
The project will organize, translate, and edit each disease entry by publicly searching the world's most authoritative rare disease information platform (Orphanet, the European rare disease information platform, and the National Institutes of Health, NIH, etc.), and finally compile it into a Chinese encyclopedia database. A rare disease establishes detailed medical information about the disease (Chinese and English, nickname, morbidity, genetic pattern, disease classification, ICD coding, etiology, symptoms, diagnosis, treatment, prevention, screening and rehabilitation, etc.). Upon completion, they will organize a team of experts to review and edit these terms, and eventually form an authoritative Chinese rare disease encyclopedia. Through such an approach, it fills the gaps in the rare disease entries in China, and also provides data reference for those involved in the work and research of rare diseases.
“There is almost no tear index in this project, but it is a very important and huge job. We need more experts and volunteers to support us.†Huang Rufang called.
Gene technology helps rare diseases
"This is also the best time." Huang Rufang said. Now, in addition to the active participation of doctors and patients, a large number of genetic and biotechnology companies have emerged, and precision medicine is truly used in the field of rare diseases.
The Huada Gene was the first to focus on rare diseases because it received a blood book from a ichthyosis patient. This family father is ichthyosis, mother is ichthyosis, and children are also. When the mother saw the child's birth and became a long fish scale, she wrote a blood book for help. "But it is a pity that our technology, programs, and means at the time have no effect, and we can't diagnose them. We can only keep in touch with them," said Yin Wei, CEO of Huada Gene.
Nowadays, with genetic testing, clinicians can do three things: one is disease assessment; the other is genetic diagnosis of disease; the third is to guide clinical medication through genetic testing. In 2014, Huada Gene confirmed more than 100 families of ichthyosis in East China. Dr. Shen Wei, Executive Director of the Hereditary Deafness Center at Harvard Medical School, has successfully detected multiple families with deaf genetic inheritance and helped them discover and intervene in the early stages whether children will have deafness.
In laboratories around the world, scientists are using increasingly sophisticated methods to study DNA in cells. China's genetic testing technology has been at the forefront of the world, which will greatly improve the clinical diagnosis rate and therapeutic effect of patients. In 2004, the price of whole-genome sequencing dropped to $1,000/person, indicating the arrival of a true “genetic eraâ€. The Chinese government's investment in this and the enthusiasm of the company in this regard far exceed the United States. Like the return to the biotech fever in 1999, the wave of a new wave of genetic industries continues to heat up.
Professor Xie Zhi from the Eye Center of Sun Yat-sen University launched the first Internet crowdfunding program to treat rare diseases. Their team is divided into three parts: patient support, scientific research, and business operations. Scientific research is mainly to do two platforms, one is the rare disease collaboration platform, which mainly uses big data to connect various databases and then conduct data mining. Including dozens of clinicians in this network, over the past few years they have helped more than 400 families, found 8 new disease-causing genes, raised $1.9 million, and established centers in Japan, India, Israel, and South Korea. The next step will be to establish a similar model organization in China.
Rare diseases are one of the genetic problems. In the words of the IT circle, it is "the code of the life program was hacked black." In addition to discovering the genes involved in the disease, how can researchers discover the mechanisms that initiate and shut down these genes? What causes a person carrying the gene to become ill, while another person carrying the gene does not get sick?
Duan Taoshen, dean of the First Maternal and Infant Health Hospital affiliated to Tongji University, feels that as an obstetrician, he has seen a large number of birth defects in the clinic, but in order to get a definitive diagnosis, sometimes it takes an average The country is more than 2-3 years old. He suggested that a rare disease diagnosis platform based on a sequencing platform must be established. On the other hand, doctors and patients need to work with research institutions, pharmaceutical companies, government organizations, and NGOs to form a total solution for the treatment of rare diseases.
The genetic company has had a preliminary attempt. Yin Wei said the case he had recently encountered. The parents of a rare patient found them and hoped to disclose the genetic data of the children's forests and mobilize the power of the whole society to interpret them. Today, 44 teams are applying for data analysis, and 32 have preliminary results, including experts from China, the US and Europe.
Internet + promotes joint
"There is no wrong life." Yin Wei pointed out that no one is perfect in the genetics. On average, each person carries 30 defects in hereditary diseases. Rare patients should be respected because they bear small probability events. Ordinary people should thank them for taking on this unfortunate proportion for us.
But genetic testing is now in a very awkward middle ground – detection capabilities are far greater than reading capabilities. For example, people who have inherited a lung cancer gene are at a much higher risk of developing lung cancer than normal people, but more often, people do not see the consequences of changes in certain genes. Even if it is seen, there is no way to solve it. The gene company will send the report to the clinician stating "please ask the doctor to combine clinical diagnosis." Doctors often worry about the results of the test sent by the patients. They have to let their graduate doctors go to the literature and look up the foreign data to find out what these mutations mean.
“Many doctors are not clear about how to interpret, when to intervene, and when to treat.†Gu Xuefan, director of the Pediatric Genetic Diseases Treatment and Treatment Center of Shanghai Xinhua Hospital, sometimes feels that there are too many genetic test reports, but too few people can interpret them. Sequencing is now a breeze, but there is still a considerable gap from the final diagnosis. Doctors don't understand genetic testing techniques and business processes, and lack relevant training and continuing education. The quality of genetic testing is also uneven, the method selection lacks a reference process, and the fuzzy clinical phenotype is closely related to the second-generation sequencing of a large number of genetic data.
He hopes that all sequencing companies will integrate and open data as much as possible, allowing more people to participate in the interpretation of the data. If you can pass the data to the doctor and use the "Internet +" to share the data, scientists from all over the world will be able to conduct specific research. This will also involve a series of ethical issues and will be a long-term effort.
"10% of my patients are foreigners. Many of them don't do Down's screening. They don't do DNA testing. If the child has a birth defect, they will feel that this is a gift from God. I want to give him a gift. More love," Duan Tao said. "Now, we are very pleased to see more and more Chinese mothers begin to accept defective children, even for rare diseases, no longer cover them. Putting out the child’s photo in the WeChat circle of friends, I am proud to say that the child is making progress every day."