Clinical Exomes Sequencing To Reporting
Date 6 June 2023 Time 14:00 CET
Dr. Manuel Delpero, an accomplished bioinformatician with an impressive foundation in computational biology. A product of the esteemed Humboldt University of Berlin, Dr. Delpero earned his PhD in Bioinformatics, focusing his research on the development of innovative algorithms and methodologies for analysing large-scale biological datasets. His areas of specialisation include the intricate fields of genomics and molecular biology. Upon completion of his doctorate Dr.Delpero ventured into the professional realm, harnessing his expertise to confront complex real-world challenges within the life sciences sector. Since March 2022,Dr.Delpero has been enriching MGI Tech as a Field Bioinformatics Scientist, where he has the opportunity to bridge theory and practice, leveraging his deep understanding to contribute to practical applications in the field.
Dr. Charles graduated with a BSc in Biology from the University of York, UK and obtained a PhD in Bioinformatics working at the Center for Genomic Regulation (CRG) in Barcelona, Spain. He joined Saphetor in 2015, after completing his post-doctoral training in the Université Aix-Marseille, France. He has worked on a wide range of subjects, from genome annotation and comparative evolution, through protein-protein interaction networks, and for the past several years has focused on NGS data analysis.
Sequencing larger regions of the genome offers more information to clinicians looking for potential disease causing variants to help diagnose their patients. This webinar demonstrates the full workflow from sample to report generation covering, exome sequencing with MGI’s DNBSeq-T7, NGS data analysis and interpretation with VarSome Clinical, and Gencell's approach and experience using both.
Whole Exome Sequencing with DNBSEQ
The advances in DNA sequencing technologies are moving fast, driving many frontline diagnostics to rely on high throughput sequencing. High throughput sequencing (or next generation sequencing) allows for the unbiased examination of the patients’ genomes and identify errors that could provide diagnosis, treatment options, or prognosis. Such tests include whole genome sequencing or whole exome sequencing and both were traditionally considered expensive or technically challenging to the point that the vast majority of tests were conducted abroad. Setting up an accredited diagnostic service based on WES requires a multistep approach in order to facilitate the delivery of accurate results on time. This presentation will provide an overview of our experience at NoorDx on providing clinical WES services in Saudi Arabia utilizing the MGI platforms.
With a rich career spanning over 15 years in Genomics, Dr. Akbar Ali Khan Pathan currently holds the position of Senior FAS Manager at MGI. His role involves providing vital support to customers, infusing the sales and marketing team with his extensive knowledge, and keeping everyone updated with the latest advancements in the field. Dr. Pathan has earned a PhD in Comparative Genomics, the result of a collaboration between Andhra University and the Max Planck Institute. His academic journey has seen him engage in postdoctoral work at esteemed institutions such as CCMB and MUSC, and hold the positions of Assistant and Associate Professor at various universities before transitioning to the industry.
A prolific researcher, Dr. Pathan has over 50 published research articles to his name in reputable journals, and has contributed several chapters to well-regarded books. His work continues to be a valuable resource for students and the wider scientific community.
Dr. Akbar Ali Khan Pathan
Date 13 June 2023 Time 11:00 CET
Dr. Marcela Galvez is a Medical Geneticist and the Medical and Scientific Director at Gencell Pharma. She is renowned for her expertise in human genetics and holds key leadership roles in the field. With a medical degree from Universidad del Rosario and a Master's degree in Genetic Epidemiology from Erasmus University, Marcela Galvez has a strong academic background. Additionally, she currently serves as the President of the Colombian Society of Human Genetics, contributing to the advancement of research and clinical practice in Colombia. Her accomplishments and leadership position her as a highly respected figure in the medical and scientific community.
I have obtained my PhD in Biomedical Sciences from the University of Ulster in 1999 followed by post-doctoral position at the labs of Eamonn Maher and Farida Latif in Birmingham UK. I have joined King Abdulaziz University in 2008 until 2021. I recently joined NoorDx Diagnostics and Discovery Laboratories at KAUST as the Lab Director and Chief Scientific Officer. I have over 20 years of laboratory experience utilizing genetic and epigenetic up-to-date technologies and approaches. My enthusiasm for research has resulted in accumulating over 60 high-quality scientific publications with an H-Index of 33. My multidisciplinary approach has put me in a position to oversee the epigenetic/genomic profiling of breast and colon cancer as well as elucidating the molecular mechanisms underlying genetic diseases in the Kingdom of Saudi Arabia. I continue to work within NoorDx and NoorDx customers towards harnessing the power of emerging techniques in molecular biology for the application of personalized medicine in the Middle East.