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As you have seen, it is estimated that as many as 2 million people are suffering from rare genetic diseases.

However, accurate early diagnosis is difficult in Korea.



This is because there is no national management system, and Jo Dong-chan, a medical journalist, continues.



<Reporter>



Taein couldn't walk even though he was over four years old.



[Choi Eun-hyang/Mother: I think I really used all the methods.

I thought it might be autism, so I tried treatment like ABA (Applied Behavior Analysis), water rehabilitation, and herbal medicine.

.]



The cost of rehabilitation treatment alone was 3 million won a month, but the effect was insignificant.



[Choi Eun-hyang/Mother: If there is something that gets better, I do it.

I do it no matter how hard it is.

But I think it was difficult because this doesn't seem possible.]



For two years, I went to various university hospitals to take brain MRIs and even received genetic tests, but I couldn't find the cause.



[Lee Beom-hee/Professor of Pediatrics and Adolescents at Asan Medical Center in Seoul: The doctor just thought about it, so I think this is it.

Then we tested just one gene for the disease.

Then if that doesn't come out, then the next one.

next one...

.]



Taein has been running around since last October.



Last September, she participated in a national genetic clinical trial that tested 3 billion pairs of genes at once, because it was found that 'creatine deficiency' was caused by a specific genetic mutation.



[Lee Beom-hee/Professor of Pediatrics and Adolescents at Seoul Asan Medical Center: We feed creatine separately in high doses, so what is lacking is now supplemented, so brain function improves and muscle strength improves.



] It is estimated that there are 8,000 rare diseases and 2 million people in Korea suffer from them.



The National Institute of Health is conducting genetic disease research by establishing a genetic biobank of 430,000 Koreans.



[Cho Sang-yeon/Researcher, National Human Resources Bank: It can be used for many studies based on such genes, such as cancer or rare diseases.]



However, it is not directly used for diagnosing patients with actual genetic diseases.



This is because there is no national diagnostic system that tests all patients suspected of having a genetic disease.



Since 2018, the UK has introduced a national genetic diagnosis system to diagnose rare diseases early, and a separate national fund has been established to administer expensive rare disease treatment drugs at the right time.



(Video coverage: Kim Gyun-jong, Video editing: Park Ji-in, VJ: Shin So-young · Oh Se-gwan)



▶ I didn't know the name of the disease, so I even did brain surgery...

A rare disease difficult to diagnose