Everywhere Project

With the development of attention to rare diseases and biophysics technology, the diagnosis, treatment, and social support for rare disease patients are improved in developed countries especially developed cities. However, due to the lack of advanced economic conditions and diagnosis methods, new treatment trials, a more inclusive environment and diverse opportunities, rare disease patients in remote and backward areas with low conditions are still serious.

We are trying to improve this situation in corresponding Chinese areas, and then promote the global solution to each corner.

In our first step, China, we expect to contact the local Health Commission to make sure all rare diseases patients in 2022 living in the original 832 National Poor Cities certificated by the Chinese government will be affected. 

We expect to establish a data platform, gathering global rare diseases case and treatment data, new treatment trial information, knowledge from authority papers of rare diseases, and authority expertise from experienced experts. 

Except for knowledge resources, we also expect help from Provincial Health Commission, rare disease profit or non-profit organizations, or local warm-hearted people to set up connections between our organization and patients. 

We also expect the help from provincial advanced hospitals or universities to form targeted assistance, by taking advantage of our data information, reaching the ideal situation of information sharing.

We are going to build a database, contact the local Health Commission and gather local warm-hearted people and share our data to strengthen the knowledge about rare diseases.

1. Build a database:

Establishing a database that covers the knowledge concerning rare diseases and the models of disease identifications. 

—The knowledge base includes general information, prevention, symptoms, abnormal test indicators, diagnosis, treatment, medication, and post-diagnosis follow-up knowledge base. 

——What usually functions first is the prevention part. In response to the fact that more than 80% of rare diseases are caused by genetic defects and more than 95% of the diseases have no effective treatment, we have designed a rare disease prevention knowledge base that includes comprehensive preconception intervention, pregnancy care, prenatal screening, prenatal diagnosis, and birth defects intervention. The content of the knowledge base can be further promoted through the knowledge service platform.

——The relatively most important knowledge base is the diagnostic part. Due to the rareness of these particular diseases, medical practitioners have only a very limited amount of reference material and experience to accurately and informatively diagnose rare diseases. Not to mention the countless examples of misdiagnosis and under-diagnosis of rare diseases in poor, remote, and backward areas with low medical standards and low education levels. According to the reference range of rare disease symptoms and various examination indexes provided, combined with clinical treatment standards and expert experience, the knowledge base can form the corresponding rare disease diagnosis rules and treatment procedures, providing a certain basis and guarantee for medical practitioners. 

——The rest of the knowledge base boards are also important. For example, in the general knowledge base, the platform will provide basic information on rare diseases including disease overview, risk factors, pathogenesis, clinical manifestations, clinical typing, major symptoms, diagnostic points, differential diagnosis, prevention, treatment, and rehabilitation, etc. It also includes information on rare disease aliases, co-morbidities, genes, genotypes, disease phenotypes, disease-genotype associations, disease-phenotype associations, epidemiological characteristics, and mapping information with other relational databases. 

——Moreover, the treatment and drug knowledge base will integrate typical cases of rare diseases, treatment guidelines, and comprehensive interventions with expert treatment experience to build a rare disease treatment knowledge base indexed by disease type to systematically present treatment plans, common drugs, surgery plans, radiotherapy plans and prognosis of rare diseases. We also explore the relationship between the use of specific drugs for rare diseases and disease regression and build a drug evidence-based knowledge base by taking diseases and drugs as the ontology and combining the drug needs of patients with rare diseases and the development of new drugs for rare diseases, changes in disease spectrum and drug policy adjustment. Finally, in the follow-up knowledge base, we will specify the follow-up period and the specific content of follow-up for patients with diagnosed rare diseases according to the type of rare disease they have, and provide experience and advice for other patients and healthcare workers.

—The rare disease model library includes a symptom-disease association model library and a disease identification model library. 

——In the symptom-disease association model library, we construct a network of association relationships between symptoms and diseases by analyzing the diseases associated with clinical symptoms in order to establish a qualitative model. Based on the establishment of the qualitative model, we design weights for the specific symptoms, common symptoms, concomitant symptoms, incidental symptoms, abnormal information, and test results of rare diseases to establish the corresponding quantitative model. And in the disease differential model library, we combine the clinical diagnostic criteria of diseases, specific symptoms, major pathogenic processes, and expert experience to assign values to the diseases to be distinguished and the symptoms corresponding to them, and especially focus on marking the specific symptoms in order to form the differential diagnosis model of rare diseases.

2. Contact the local Health Commission and gather local warm-hearted people; Share the database with patients living in remote and backward areas with low education levels; Eventually establish a data platform that connects the remote, poor regions with low education levels and the relatively developed regions to better share information related to the rare diseases:

In China, in addition to the economic gap between the developed and poor regions, what is more, difficult to change is the deep-rooted cultural dross and backward education level. Under the premise of low education and cultural level, there is a great information asymmetry between these regions and developed regions. What's more, as we mentioned above, multiple rare diseases are rooted in genes; meanwhile, the locals in these less educated areas rarely pay attention to genetic checks before giving birth to children and sometimes, inbreeding also exacerbates genetic problems, making rare diseases more common in these backward, poor and remote areas. In order to fill this gap and assist remote regions to recover from the darkness of rare diseases, we plan to base on our foundation in Jiangsu (Jiangsu belongs to the most developed eastern coastal region of China) and actively contact medical institutions in the helping areas and their local kind-hearted people who are enthusiastic and have some medical or cultural background to promote and introduce our big data platform to them. We also encourage them to introduce the platform to their local communities, use it in a timely manner, and further promote the knowledge and models of rare diseases that we have built.

The target population we aim to help is the existing, potential, and future rare disease patients, their families, and medical workers in remote and backward areas of China.

Due to the geographical location, the level of education, the level of medical care, and the lack of publicity about rare diseases in the country in general, there is a great deficiency in the understanding of rare diseases, the awareness of prevention, and the level of diagnosis and treatment of these patients. This is why there is a large gap between our target population and those in developed regions of China (such as our base in Kunshan, Jiangsu) in terms of rare disease awareness, diagnosis, and treatment; and because of this inequality, we have chosen to focus on specific populations in these specific regions, building database and supplementing them with appropriate advocacy and matchmaking.

The database we have established will efficiently and quickly transfer advanced information from developed regions to our target groups, forming a support mechanism similar to the "first rich leads to the next rich". Using the database, the information asymmetry between the target and developed regions will be greatly improved. For instance, patients can self-examine their symptoms based on the platform's knowledge base and model library, and get certain results to encourage them to seek timely medical treatment and reduce the harm caused by untimely medical treatment. Moreover, physicians also have access to advanced data, and experience, such as diagnostic bases, examination procedures, and treatment methods, both domestically and internationally, in the database.

In addition to the direct beneficiaries and medical workers, our data platform and the supporting publicity can help the families of patients in the target areas to better understand the condition of their family members and provide reasonable and effective help, as well as raise the awareness of the general public about rare diseases and change their backward and wrong misconceptions, so as to further reduce the social pressure and psychological burden of rare disease patients as much as possible. In this way, our platform will be able to help the target population and the target area from both psychological and physical aspects and improve their living standards.

• We have experience with establishing a platform to connect people in need and people who want to help. We have attended Let Books Go into Village activity. In this activity, we established a platform and advocated for people who had abundant books to donate their redundant books to the village primary school. We have gathered hundreds of kind people, and we sent our books together to children who did not have enough books to read. Our platform influenced nearly 2000 children’s reading journeys. In this program, we also want to set up a platform, gathering the quality medical resources from developed cities and sending them out to less developed areas. Our platform also aims to make developed cities help less-developed areas directly.

• Developed area helping developing area is feasible. In China, there is a way to administrant the country is that letting people who become rich first and then letting them help people who are not rich enough. We have a similar way to help patients who live in remote and backward areas with low education levels. We collect resources from developed cities and send them out to developing villages. We also provide a direct way to connect patients who live in developed cities and developing cities to share experiences together.

• We come from Duke Kunshan University, we can get help from Duke Global Health Research Center, which is great academical assistance with our database setting. We are students mainly majoring in Global Health, Public Policy, and Data Science, we have passion and knowledge to set up databases and help rare disease patients from remote and backward areas with low education levels.

• Legal: Our program expects to own the legitimacy. Because the rare diseases patients’ information involves personal privacy issues, only the certification of the legitimacy, we can have the information from the local Health Commission and cooperate with local profit or non-profit organizations.  

• Finance: We are a non-profit organization so we do not have any financial support. We need to download a huge number of papers and insult professors to establish a database. We also expect some financial support with transport. Our volunteers need to arrive at appointed areas in person to make sure the success of the program. On the whole, we expect some chances of possible financial support from Challenge to help us with transport, communication, and special information.

• Propaganda: We want more profit or non-profit organizations can contact us. In this regard, more online propaganda is expected. We expect to broaden our ways to propagate our database and are willing to connect with different people.