My first paper as a corresponding author was published recently. The study took 2 years during my postdoc in the US and an additional 3 years after setting up a lab in Korea.
https://lnkd.in/gBYVCPwx
We have created a short video highlighting the paper's results and implications. (Thanks to Nari for creating this excellent video.)
I want to extend my gratitude to all who contributed to this research. I especially thank the patient and her family for participating in the personalized treatment trial. Special thanks to my Ph.D. student, Sijae Woo, for his contribution in genomic analysis and patient selection guidelines. I also thank Claudio for the personalized clinical trial, Boxun for the experimental validation of the patient selection guidelines, and Diana, Renata, April, Aubrie, and Tojo for the demonstration of the treatment efficacy in patient cells. Thanks to Brad, Jen, and all the patients for their collective commitment in putting together the whole genome sequencing dataset.
I am sincerely grateful to Peter Park for the precious opportunity to re-start research when I came back to academia, and to Tim Yu for pioneering the field of personalized therapy and offering valuable insights throughout. My appreciation extends to KAIST for fostering a supportive environment for research. Thanks to all the members of jklab for their dedication.
Details of the study:
It follows up on our previous study on personalized rare disease treatment called "milasen," published in 2019. We found that similar personalized treatment strategies could be applied to ~10% of patients with rare diseases lacking available treatments. Whole-genome sequencing proves more effective in identifying these patients than traditional gene panel tests.
Rare diseases, especially those affecting non-regenerative tissues like the eyes or brain, often have limited treatment efficacy once symptoms appear. Early diagnosis and pre-symptomatic treatment strategies are crucial, but with 95% of ~7000 rare diseases lacking treatments, meaningful cases of early diagnosis leading to effective treatments have been rare.
Our study demonstrated that even for rare diseases without existing treatments, personalized therapies can be developed in ~10% of cases, based on specific mutations present in the patient. This opens the possibility for increased cases of diagnosis leading to treatments. Whole-genome sequencing enables early diagnosis and identification of patients with actionable mutations, potentially resulting in higher treatment efficacy.
We reported a case where personalized treatment, which was named "atipeksen," was developed and initiated for a newborn diagnosed through screening before major symptoms appeared. After more than 3 years of treatment, the child shows no adverse effects from the treatment and remains stable, which is encouraging. However, definitive conclusions on the drug's efficacy and safety will require further follow-up.