A research team at the Korea Advanced Institute of Science and Technology (KAIST) has demonstrated the possibility of developing personalized treatments for rare diseases that currently have no treatments through genomic analysis.

It is important to diagnose and start treatment before the onset of symptoms for rare diseases as they are difficult to treat after symptoms progress.

However, 95 percent of rare diseases do not have a cure, and even if there is a cure, the efficacy of the treatments is not guaranteed due to mutations.

As a result, the team, led by Professor Kim Jin-kuk at KAIST Graduate School of Medical Science and Engineering, has developed a way to make individualized treatments for about 10 percent of patients with rare diseases regardless of individual characteristics such as mutations through whole genome sequencing (WGS).

The team also found a way to quickly and systematically screen that 10 percent of patients using genomic-based diagnostics, even before symptoms begin.

To test the system in the actual clinical field, the team conducted a WGS of a large group of patients with a rare disease called ataxia-telangiectasia.

The results confirmed that genomic analysis could be used to manufacture personalized treatment for about 10 percent of the patient population.

Using this data, the team identified a personalized, treatable mutation in a single patient and developed a drug called Atipeksen. The drug is currently undergoing clinical trial for the patient.

"This research will accelerate the transition from diagnostic-focused treatment to treatment-focused treatment for patients with rare diseases," Professor Kim said. "While personalized treatment strategy is currently limited to brain, eye, and liver diseases for technical reasons, the advancement of this system will allow it to be applied to other diseases, including rare diseases."

The results of the research were published in the online edition of Nature on Wednesday.