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Can These High School Students Improve the Diagnosis of Rare Diseases?

Published October 08, 2019

Can These High School Students Improve the Diagnosis of Rare Diseases?

According to the World Health Organization, there are 5,000 to 8,000 rare diseases, most of them with a genetic basis. But errors in diagnosis can delay the implementation of proper treatments, especially for those in poor areas of the world where access to healthcare is limited. Now, six high school students who participated in The Junior Academy’s Genomics Challenge, sponsored by Regeneron and Medidata, have developed a prototype for a better way to test the genetic code and thereby improve the diagnosis of rare diseases.


The students (Evangelos Kassos, 18, from Karditsa Greece; Ana Stratan, 18, from Bucharest, Romania; Aditi Gupta, 18, from Delhi, India; Monish Singhal, 14, from Bengaluru, India; Athena Yao, 17, from Wantagh, New York, USA; and Ana Bonavides-Aguilar, 17, from Cuernavaca, Morelos, México) impressed the Challenge judges with their comprehensive four-step approach, which addressed rare disease diagnosis, access to consultation, patient privacy, and knowledge distribution. Their innovative “iDNA Protocol” utilizes blockchain technology to ensure patient privacy, while increasing data sharing across research entities through their Doc2Doc platform model. Better data sharing facilitates collaboration between researchers, doctors, and patients, leading to more efficient and personalized diagnosis and treatment. A “Prion Detection Kit” will help patients identify neurodegenerative disorders through at-home urine tests. This early detection kit complements the “GenePack” testing and treatment protocol, which tests newborns for genetic diseases and connects people living in isolated areas with research centers.

For their solution, the team received an all-expenses-paid trip to New York City to attend the 2019 Global STEM Alliance Summit.

Here, the students share their thoughts on the project and why they’re excited about its potential impact on medically underserved communities:


"Most of all, we thought about who we could help. We fashioned our project to cater to the needs of underserved communities.”

- Ana Stratan



Diverse Perspectives

“I had no idea what was waiting for me when I posted ‘Wanna be the next Watson?’ on Launchpad. Five amazing people from around the world joined me in taking on the Genomics Challenge,” explains Evangelos Kassos. “Along with our mentor, we created a fantastic space full of creativity, where we could all thrive.”

Multidisciplinary Focus

“All of us had a focus—biology, technology, informatics—and we thought about the Challenge through these different lenses. Most of all, we thought about who we could help. We fashioned our project to cater to the needs of underserved communities,” says Ana Stratan. “Periodically we asked for input from people outside of the project to better understand our target audience.”

People Aren’t Numbers

“Our mentor explained to us how dire situations could get. We realized that while everyone was looking at the numbers, no one was realizing that these numbers are people,” laments Aditi Gupta. “I have lived in both a first world country and a third world country. I’m thankful for having access to the American healthcare system because India is still developing theirs.”

A Diagnosis-Focused Solution

”We realized that treatment is a different problem. The mere diagnosis of the disease can be troublesome,” says Monish Singhal. “We spoke with Prasanna Shirol, the co-founder and board director of the Organization for Rare Diseases India (ORDI), whose daughter suffers from Pompe disease. His daughter was diagnosed inaccurately several times. This example led to our diagnosis-focused solution, which emphasizes early identification of a disease.”


"We realized that while everyone was looking at the numbers, no one was realizing that these numbers are people.”

- Aditi Gupta


A Unified Approach

“Our solution has the potential to improve lives and be implemented effectively in existing communities globally, in a cost-effective manner,” says Athena Yao. “Our approach involves changes in the rare disease diagnosis and treatment process, addressing the different aspects of the problem. We employed our knowledge, resources, and understanding of global perspectives to create a solution that is viable for various areas.”

Achievable Impact

”The ideas we are proposing are groundbreaking, innovative, and achievable,” concludes Ana Bonavides-Aguilar. “Even though some are more challenging to attain (like creating the iDNA Protocol) there are others that if research begins, they could change the way genetic diseases are being detected, like the Antibody Testing Kit. Therefore, people suffering from rare diseases could—and will—have a chance at a high quality of life.”

Want to tackle global problems like this one? Apply to be part of The Junior Academy.