This project is dedicated to promoting the gene detection technology for the MTHFR C677T single nucleotide polymorphism (SNP) in the folate metabolism enzyme 5,10-Methylentetrahydrofolate reductase (MTHFR). It aims to breaking down barriers between regions with differing healthcare capabilities, ensuring that individuals from diverse backgrounds and economic circumstances have equal access to this convenient detection service. Regrettably, impoverished populations in remote areas and individuals with disabilities often lack access to timely interventions. This is due to limitations in detection technology, relatively high associated costs, insufficient awareness and availability of this detection methods, among other factors. These issues ultimately lead to a series of adverse outcomes due to the failure to timely supplement an appropriate amount of active folate, such as neural tube defects and spina bifida in infants, as well as anemia in pregnant women. Therefore, to achieve comprehensive population coverage, we have developed a series of targeted and inclusive measures for these two groups.

The incidence of congenital diseases among newborns in rural areas of China remains relatively high due to underdeveloped economic conditions, insufficient medical facilities, and low health awareness. To increase awareness of folate metabolism-related gene detection, we proactively reach out to local communities. By creating materials such as picture books and posters, we organize accessible science popularization activities, which have received wide recognition and positive feedback.

We gained insights into the needs of people with disabilities through in-depth interviews. Based on their cognitive characteristics and specific requirements, we designed folic acid-related science education lesson plans and developed a dedicated website for science promotion and knowledge dissemination. Additionally, we have shared relevant content across multiple social media platforms to raise public attention and emphasize the significance of folate metabolism-related gene detection.



We firmly believe that these inclusive measures will effectively increase public awareness of genetic testing related to folate metabolism, eliminate barriers that hinder various population groups from accessing folate metabolism genetic testing services, and ultimately achieve the project's goal of universal population coverage.

While China has achieved remarkable success in poverty alleviation, some rural areas still face significant socioeconomic challenges. These frequently overlooked regions urgently require more inclusive healthcare support. By 2020, the Chinese government had fully eradicated absolute poverty in rural areas. However, data from 2018 revealed that 19% of women were still trapped in multidimensional poverty, which includes limitations in accessing basic resources such as education and healthcare. During our work in some impoverished areas of Liangshan, Sichuan Province, we discovered that many women did not take vitamins or health supplements during pregnancy and did not receive standardized prenatal check-ups. This issue stems not only from resource scarcity but also from the lack of accessible healthcare services.

To ensure that every life receives gentle care, we have launched an innovative folate metabolism gene detection program — vividly named the "Journey of a Drop of Blood". From collecting trace samples from the fingertip to conducting in-depth genetic analysis, this technology aims to provide scientific support to the groups that need it most. By adopting the one-tube detection technology, this program offers low detection costs that approximately 3 yuan per person, and a rapid turnaround time of just 2 hours. In contrast, existing detection technology in hospitals require 5 days, representing a significant reduction in time (Figure. 3). This breakthrough has greatly enhanced the accessibility and inclusivity of screening services.

We also strive to bridge gaps in digital access and resource availability through various channels, including offline seminars, science popularization materials, and new media platforms. Our goal is to deliver essential information about folic acid metabolism testing to every corner of the country and every woman—regardless of her location or internet familiarity—ensuring equal access to this valuable knowledge related to the health of the next generation.

Furthermore, we place great emphasis on imparting engaging and practical health knowledge to children. With the core concept of "Understanding Ingredient Lists, Safeguarding Health," our integrates professional knowledge with vivid, real-life cases drawn from children's daily dietary experiences. Through practical examples and comparative analyses, the team systematically explains how to interpret ingredient lists. We also highlight several types of food additives that require caution, helping children learn to identify these additives, regulate their intake, and prioritize the selection of foods with fewer additives.

(1)Audio Resource Creation

We have made a deliberate effort to develop audio resources to ensure full accessibility for individuals who are blind, have low vision, or prefer auditory learning.

To reach this significant portion of the population, we not only use the "Listen to the Full Text" function in WeChat Official Account articles to introduce two targeted science popularization events held in Laifengjie Community and Cuilin Villa Community, but also produce vivid promotional videos that provide in-depth explanations of the genetic mechanisms underlying folate metabolism disorders. From selecting professional recording studios to ensuring clear and well-paced narration, we meticulously craft our content to share insights effectively. By adhering to guidelines for audio clarity and structure, we create inclusive, engaging, and easily understandable audio resources that meet the needs of individuals who rely on auditory content.

(2)Dyslexia-Friendly Font and Text Design

Individuals with dyslexia often find it challenging to read standard fonts, as these fonts can appear distorted or disorganized to them.

Avoid Italics and Underlines: In all main text, we follow the guidelines of the British Dyslexia Association and refrain from using italics and underlines, both of which can distort the visual appearance of words. Instead, we use bold formatting to highlight important information.

Letter Spacing: We ensure that the text features increased letter spacing, which helps dyslexic users follow lines of text without losing their place.

Color Contrast: The text and background colors of posters are carefully selected to provide sufficient contrast, enhancing readability for users with visual impairments.

Simplified Layout: We design clean, well-structured layouts that facilitate comfortable interaction with content for individuals with visual impairments and other conditions, such as autism.

(3)On-Site Interview Documentation

During interviews focused on folic acid metabolism and public awareness, Ms. Wang shared her experience when asked about her understanding of the importance of folic acid and the differences in folate metabolism genotypes. She explained that she previously only knew that pregnant women need to supplement folic acid and was unaware that folic acid is equally critical for people with disabilities. She often felt fatigued in the past but didn't know the reason, until she underwent a folate metabolism pathway test and discovered that she had the TT genotype, which hindered her absorption of folate intake. Ms. Wang hoped that through relevant science popularization efforts, more people with disabilities would learn about folate metabolism pathway testing, avoiding situations like her own "ineffective folic acid supplementation" and helping more individuals manage their health with precision.

(1)Science Popularization for Vulnerable Groups

Science popularization education is an important part of China's educational system. However, most current science popularization courses are mainly targeted at ordinary children, and autistic children are often excluded. The case of Dr. Temple Grandin, an animal scientist, proves that autism is not an obstacle to scientific learning, and autistic children also have the right to access science popularization and express their curiosity.

Therefore, we have collaborated with universities such as Nanjing University and Xi'an Jiaotong-Liverpool University to develop science popularization courses for autistic children, with "Infant Care Class" selected as the practical theme. These courses transform the scientific research project on "prenatal folic acid diagnosis" into content that is easy for autistic children to understand. Drawing on Dr. Temple Grandin's experience, we convert complex scientific knowledge into intuitive images and tactile games, and optimize the teaching language. This allows children to not only engage with life sciences but also experience care and responsibility, and gain a sense of happiness.

Meanwhile, to extend the benefits of scientific research to more people, we have collaborated with Southern Medical University and Huazhong Agricultural University to transform cutting-edge knowledge related to folic acid diagnosis into warm-hearted picture books, which accompany expectant parents. During the creation process, we listened to opinions from various parties and also invited expectant parents to participate in optimizing the picture books—turning the beneficiaries of science into co-creators and breaking down the barrier between science and the general public. In the end, the picture books convert difficult-to-understand terminology into accessible illustrations and vivid stories, alleviating pregnancy anxiety and further integrating science into families and communities.

These two projects embody the core spirit of iGEM—responsibility. We interpret "responsible innovation" through our actions: while pursuing cutting-edge technology, we uphold the bottom line of humanity; while exploring the possibilities of life, we safeguard cognitive equality. We fulfill the commitment that "science can be warm, technology can be empathetic, and every life deserves to be valued."

(2)Accessibility of Diverse Languages and Cultures

To widely disseminate the team’s design concepts, achievements, and values, we have carefully built a multi-dimensional social media communication matrix, launching official accounts on three major platforms: WeChat Official Account, RedNote, and Bilibili. In addition to Chinese content, we have also specially developed English content to showcase our project across various sections. We hope that this language—used by the largest number of people worldwide—will help us better promote our project and enable more people to learn about it.

The WeChat Official Account serves as a platform for in-depth content, systematically breaking down design ideas, sharing stories behind projects, and providing professional insights.

RedNote leverages its visual strengths to showcase design details, application scenarios, and user feedback through image-rich content, aligning with the reading habits of the general public.

The Bilibili account focuses on dynamic science popularization and interaction, using animated demonstrations to make abstract design concepts more intuitive and understandable.

By conducting differentiated operations for accounts across various platforms, we are committed to breaking down barriers in information dissemination. This ensures that our team’s design achievements can accurately reach audiences with diverse needs, helping more people gain an in-depth understanding of the significance and practical value of our work.

Precise Demand Targeting: Focusing on high-frequency posts on RedNote such as "Do pregnant women need to supplement active folic acid?", "Why is folic acid metabolism gene testing so expensive?", and "The waiting time for folic acid metabolism gene testing is too long", we dig deep into the core pain points—demand for affordable, fast, and essential testing. Featuring "3 yuan per test and results available within 2 hours", the testing technology directly addresses the cost- and timeliness-sensitive needs of grass-roots pregnant women. Furthermore, it identifies an individual’s folic acid metabolism capacity through genotype testing and provides a precise folic acid supplementation plan.

Language Adaptation: For science popularization content on RedNote, we use colloquial expressions such as "folic acid testing with a drop of blood", adopt multiple languages including English and Chinese, and incorporate comparison tables and clear color-matched diagrams. We avoid professional jargon to cater to both ordinary users and people with visual impairments.

To build a team truly diverse in gender, ethnicity, ability, and academic background, we have proactively expanded our perspective on international cooperation, with a special focus on Pakistan—a country facing significant urban-rural disparities and public health challenges. We are honored to invite Professor Muhammad Sohail, a Pakistani teacher, to serve as our cross-cultural consultant. He assists us in gaining in-depth insights into the local context and understanding the differences in demand for and acceptance of folic acid metabolism testing across various countries and regions. This ensures that our research does not exist merely in laboratories or apply only to China, but can be utilized in the broad and real world.

Meanwhile, we have also conducted online interviews with frontline clinicians and university professors in Pakistan, including Dr. Mkamran Kamboh and Dean Haji Muhammad Shoaib Khan. From their respective professional perspectives, they analyzed and explained the current state of awareness regarding local folic acid diagnosis, the effectiveness of clinical practices, as well as the current application, future development trends, and challenges of synthetic biology technology in the field of folic acid diagnosis.

These interactions have revealed a thought-provoking reality: in some rural areas and among low-education groups in Pakistan, awareness of folic acid supplementation remains weak, and neural tube defects have not yet become a thing of the past. This has further strengthened our conviction that it is essential to develop a more inclusive folic acid diagnosis protocol, conduct public science popularization education in resource-constrained environments, and advance fast and affordable folic acid diagnostic technology.

We also interviewed team members from different regions. A student from Guangxi stated frankly during the interview: "The local economic and medical standards are not high, so there is an urgent need for convenient and low-cost folic acid diagnostic products. I am very happy to join this team and contribute my part to this experimental project, so that people in my hometown can access scientific, convenient and affordable medical products as soon as possible."

As Laozi, a famous ideologist in Ancient China, stated in his work Tao Te Ching, "He who knows others is wise; he who knows himself is enlightened." We firmly believe that true inclusiveness begins with oneself. When we look beyond our immediate scope and commit to building a health barrier for mothers from diverse backgrounds around the world, we first choose to cultivate inward—sowing the seeds of inclusiveness within our team.

To this end, we held an in-depth lecture on reproductive equality and anti-discrimination. This was not merely a transfer of knowledge, but also laid a solid foundation for the development of an inclusive culture within the team. Together, we took an oath under the team flag: to engrave the commitment to respect and equality deeply in our hearts. We organized discussions, allowing members of different genders and backgrounds to speak freely, and deepened our understanding of social responsibility through the collision of ideas.

All of these, though seemingly unrelated to the scientific research conducted at the laboratory bench, truly determine the warmth and direction of our technology. Only when the team itself becomes a microcosm of society that respects differences and opposes discrimination can we design health solutions that are truly inclusive and equitable.

In order to solve the problems of manual experience dependence and inconsistent standards in MTHFR C677T detection, our team built an automated type judgment algorithm based on professional knowledge to achieve accurate and standardized detection results.

The algorithm was developed based on the amplification curve of MTHFR C677T qPCR fluorescence signal, and the threshold value of core indicators for identification was determined by combining 50 blood sample data.

By developing algorithmic modules that process qPCR fluorescence data, our system analyzes and statistically processes the information. Using predefined genotype models, it accurately identifies genetic profiles and generates standardized reports. This automated solution dramatically lowers operational barriers with a user-friendly interface. Operators need only follow step-by-step instructions to obtain precise results without requiring specialized training. More importantly, it eliminates time-consuming manual identification processes and reduces training costs for professionals. The system also prevents diagnostic errors caused by human error, significantly lowering overall expenses. This advancement enables MTHFR C677T testing to reach underserved populations—including those in impoverished regions and individuals with disabilities—providing crucial support for the global expansion of precision medicine.

In order to ensure the consistency of detection technology in different scenarios and operators, and avoid the result deviation caused by environmental differences or different operating habits of personnel, our team invested a lot of time to systematically sort out the whole process of the experiment, formulate a detailed and feasible Protocol, and carry out multi-dimensional reproducibility verification.

We have refined the operation steps. In terms of sample collection, reagent preparation, instrument operation and result interpretation, our team has defined the operation standards and time requirements, and every operation point is emphasized in the protocol.

After finalizing the protocol, we initiated internal instrument validation by conducting experiments using various qPCR instruments to eliminate potential interference from equipment brands or operational years. We further collaborated with the NAU-China team, inviting their members to perform the procedures strictly according to our protocol without providing any additional guidance during the process.

Experimental results demonstrate 98.5% accuracy in anomaly detection across different instruments and operators. This achievement not only validates the protocol's clarity and user-friendliness, effectively lowering operational barriers, but also strongly confirms the high reproducibility of the detection technology, establishing a solid foundation for its future implementation and widespread adoption.

SNP detection is an experimental technique that utilizes molecular biology to identify, genotype, and analyze single nucleotide variation sites in genomes. Its core objective is to precisely determine base differences at specific genomic locations among individuals. Our team's detection protocol was established using the MTHFR C677T as the target marker.

To test the scalability of this system, we tried to apply this scheme to the detection of BRAF V600E.The BRAF gene is a proto-oncogene located on the long arm of human chromosome 7 (7q34). V600E mutation is the most common SNP mutation in the BRAF gene, which is associated with thyroid cancer and melanoma. It results from a substitution of the thymine (T) base with adenine (A) at position 1799, leading to the replacement of valine with glutamic acid at amino acid position 600. We designed specific probes based on the corresponding gene sequences, and the experimental protocol and system were consistent with those used for MTHFR to detect BRAF V600E.

The experimental results demonstrated that the output of the qPCR instrument was consistent with the expected outcomes: when only the wild-type template was present, only the fluorescence signal from the wild-type probe showed a significant increase; when only the mutant template was present, only the fluorescence signal from the mutant probe showed a significant increase; and when both wild-type and mutant templates were present in the system, the fluorescence signals from both corresponding probes increased significantly. These findings confirm the feasibility of the detection method for BRAF V600E.

Experimental results demonstrate that the SNP detection method we developed can adjust detection sites according to different testing requirements, exhibiting extremely strong expandability and broad application prospects.

In the future, this project will continue to deepen inclusive practices. On one hand, we plan to expand the coverage of popular science in rural areas, optimize promotional formats based on local characteristics, and connect with primary-level medical resources to realize the simultaneous implementation of popular science publicity and testing services. This initiative will further reduce the testing costs for rural populations and improve service accessibility. On the other hand, we will strengthen cooperation with disability-related organizations, collect feedback, and continuously update the content and formats of popular science to ensure that our services better meet the actual needs of different disability groups.

Furthermore, we will summarize existing experience and promote the extension of folic acid testing technology to more populations, truly achieving the goal of covering all groups. Our ultimate vision is to ensure that every individual can equally access opportunities for health protection. This is not only a grass-roots practice in response to the "Healthy China" strategy, but also a contribution of Chinese wisdom and youth strength to the building of a global community of health for all.