TFRD Participated in the Asia-pacific Conference

TFRD Participated in the Asia-pacific Conference on Human Genetics and Asia LSD Symposium

“The 12th Asia-Pacific Conference on Human Genetics（APCHG）” and “the 18th Asia LSD Symposium” were held in Bangkok, Thailand from November 8th to 11th. With the introduction of Next Generation Sequencing（NGS）, the era of Genomics Medicine has come and the topic of the 12th APCHG, “Genomic Medicine and Clinic Practice”, focused on the importance of NGS on clinical practice.

Dr. Chung from Hong Kong mentioned that NGS not only is utilized in disease diagnosis, but will be a trend adapted in prenatal exams in the future, which allows a 6.25 % increase on the detection rate of birth defects. However, the huge costs of prenatal exams, the long period of examination time, the correlation between the detected genes and the clinical practice are still unsolved puzzles. Regarding the treatments of diseases, Dr. Y-T Chen, the former chairman, said that even with the introduction of ERT, the enzyme replacement therapy, there are still difficulties in the treatment of Pompe Disease: that is, how to make the medicine delivered into skeletal muscle and improve the symptom of muscle fatigue. Nevertheless, the researchers are still working hard on finding new treatments, such as the second generation of chaperon treatment, gene therapy…and so on. The results are worth expecting.

In the conference, Asia LSD Symposium invited Ms. Ruth Kuan-Ju Chen, the Executive Director of TFRD, as the speaker. Ms. Chen mentioned that with complete genetic consulting, more families will be able to get to know the disease, medical care, and the correct information, which will help them clearly evaluate the risks and lower the harm concerning next generation breeding.

Translator: David (SMA), Reviewer: Nicky