PacBio APAC Webinar Series - HiFi Sequencing propels carrier screening for genetic diseases.

Wednesday, 15 June 2022
10:30 - 11:30 am (India Standard Time)
1:00 – 2:00 pm (Singapore)
2:00-3:00 pm (Seoul, Tokyo)
4:00-5:00 pm (Melbourne)

Join us on Wednesday, 15 June 2022 from 1:00 - 2:00 pm (Singapore Time) for the next iteration of the PacBio Asia Pacifc webinar series featuring Dr. Vorasuk Shotelersuk of Chulalong University's Faculty of Medicine and Geoff Henno from PacBio.

Prof. Vorasuk's topic will be on Congenital adrenal hyperplasia (CAH), most commonly caused by variants in CYP21A2, could be fatal in infancy. Early identification of mutations would save lives; however, its biochemical and molecular testing methods have technical and practical limitations. Using long-read amplicon sequencing, we now show that the technique provides a 100% solve rate in a cohort of 48 patients. This paves a way of using it in real-world practice, including for newborn screening. br>

Geoff will share how clinical research and screening labs regularly implement a combination of conventional molecular methods for frequently tested targets and are constantly seeking to improve and streamline their workflows. PacBio’s HiFi sequencing offers a highly accurate, data-rich and scalable alternative by combining amplicon-based or custom probe capture solutions with our long-read approach and bio-informatics tools. Our Sequel IIe system allows for cost-effective and deep target coverage, as has been demonstrated by several clinical research labs.

Attend this webinar to find out how PacBio HiFi sequencing propels carrier screening for genetic diseases.

Dr. Vorasuk Shotelersuk, Faculty of Medicine, Chulalongkorn University

Professor Vorasuk Shotelersuk obtained his medical degree with First Class Honours from the Chulalongkorn University in Bangkok, Thailand, in 1992. After he finished his paediatric residency training in 1996, he became a visiting associate/medical staff fellow at the NICHD, and a genetics fellow at the NHGRI, NIH, USA. In 1999, he received a Diploma from the American Board of Medical Genetics in both Clinical Genetics and Clinical Biochemical Genetics Specialties. Currently, Prof. Vorasuk is the Associate Dean for Research Affairs, the founding and current Director of the Centre of Excellence for Medical Genomics of the Faculty of Medicine, Chulalongkorn University, and the president of the Thai Society of Human Genetics.

Prof. Vorasuk has over 220 published research articles in PubMed database (including New England Journal of Medicine, Molecular Cell, and Nature Communications) with more than 6,700 citations and an H-index of 38 in Google Scholar. He has received numerous national and international awards for his research contributions including a Newton Prize from the UK Medical Research Council, a National Outstanding Researcher Award from National Research Council of Thailand and the Outstanding Scientist Award from the Foundation for the Promotion of Science and Technology under the Patronage of His Majesty the King of Thailand.

HiFi sequencing propels carrier screening for genetic diseases

Speakers

Vorasuk Shotelersuk, MD, FABMG

Geoff Henno