elopmental Biology and Bioengineering. He has received degrees from Harvard College (AB), and The Rockefeller University (PhD), conducted post-doctoral research at Stanford University, and joined the University of Pennsylvania faculty in 1989. Dr. Roos is a member of the American Academy of Microbiology, and has received various awards, including the Presidential Young Investigator Award from the National Science Foundation, the Burroughs Wellcome Scholar Award, the Ellison Medical Foundation Senior Scholar Award in Global Infectious Diseases, and a Merit Award from the National Institutes of Health. He has published >250 scientific research reports, and travels widely as a lecturer and consultant. Prof. Roos is strongly committed to education, having trained >25 doctoral students and 50 post-doctoral fellows, taught Introductory Biology and Cell Biology to undergraduates and advanced courses in Infectious Disease Biology, and organized workshops in Bioinformatics and Cell Biology at many sites throughout the world.
btained her PhD from Max-Planck Institute for Molecular Genetics and Free University, Berlin, Germany in 2003. While doing her PhD, Özlem became interested in structural biology, and during her postdoctoral positions (Texas University, USA; University of Western Cape and University of Pretoria, South Africa) she gained experience in structural bioinformatics as well as structural biology. In 2009, Özlem took up an academic position at Rhodes University, South Africa. She established the Research Unit in Bioinformatics (RUBi) in 2013. She has graduated 21 PhD and over 35 MSc students since she joined Rhodes University. Recently, she received the Vice Chancellor’s Distinguished Senior Research award for 2020 and South African Society for Bioinformatics (SASBi) Silver Award, 2022. She serves on the Editorial Board for Frontiers in Molecular Biosciences and Frontiers in Applied Mathematics and Statistics, Biological Modeling and Simulation Section, and she is an Advisory Board member of F1000Research Bioinformatics Gateway.Education and Training
Tools and Services
Resources
Communication
H3ABioNet Seminars' Series
The H3ABioNet Seminar coordinators and task force cordially invite you to join us for our tenth webinar for 2022, the November seminar titled "Implementation of clinical Whole Genome Sequencing across the sea".
URL to join the seminar: https://tinyurl.com/
Description: Next generation sequencing is revolutionizing rare diseases medicine. The pace of gene discovery and orphan drugs has accelerated since the implementation of this technology. Despite the successes, this implementation also comes with challenges that are different in depending on the setting : developed versus developing countries. Our talk will explore some aspects of the implementation of Whole Genome Sequencing on both sides of the development threshold.In the first part, we will present the challenge of reducing the time to diagnostic for critically ill pediatric patients using the rapid whole genome sequencing. Genetic diseases are an important cause of hospital admission and death for small infants. Whole Genome Sequencing in a short turnaround time (rapid WGS, rWGS) represents a valuable exploration in critically ill pediatric patients as it can significantly shorten the diagnostic odyssey while allowing to explore SNVs, CNVs, mitochondrial DNA and microsatellite from the same data. We combined a high-throughput NGS platform with cloud-based computing data analysis services to evaluate the feasibility, time to diagnostic, yield, and utility of rWGS in Belgium in 18 trios and 2 duo since February 2020. We also explored the usefulness of the molecular diagnostic. In the second part, we will discuss the challenges of the implementation of the clinical Whole Genome Sequencing in the first 45 patients included in the iHope Program in the DR Congo.
About the Speaker: Dr Aimé Lumaka graduated from the Medical school (2005) and specialized in Pediatrics (2012) at the University of Kinshasa (DR Congo). He later obtained his PhD degree in Human Genetics and Genomics at the KU Leuven (Belgium). After working for 2 years in a genome interpretation company, he joined the University of Liège in 2018. Dr Lumaka is Professor of Genetics and Pediatrics at the University of Kinshasa (DR Congo), the Coordinator of a Genomic Medicine platform at the University of Liège (Belgium).
His current work focuses on the use of Whole Genome Sequencing as the tool to foster the identification of novel rare diseases genes and improve care for rare diseases patients, especially in resource-limited countries. Dr Lumaka is currently a clinical consultant in genetics at the University hospitals of Liège (Belgium), the chair of the Rare Diseases Working Group of the H3-Africa consortium and the Director of the Reference Center for Rare and Undiagnosed Diseases in the RD Congo. His contributions to science also include the (1) identification of genetic anomalies causing developmental diseases in African patients, (2) description of African phenotype in known genetic diseases and (3) identification of genetic modifiers of the phenotype and treatment response in Sickle Cell Anemia.
His current work focuses on the use of Whole Genome Sequencing as the tool to foster the identification of novel rare diseases genes and improve care for rare diseases patients, especially in resource-limited countries. Dr Lumaka is currently a clinical consultant in genetics at the University hospitals of Liège (Belgium), the chair of the Rare Diseases Working Group of the H3-Africa consortium and the Director of the Reference Center for Rare and Undiagnosed Diseases in the RD Congo. His contributions to science also include the (1) identification of genetic anomalies causing developmental diseases in African patients, (2) description of African phenotype in known genetic diseases and (3) identification of genetic modifiers of the phenotype and treatment response in Sickle Cell Anemia.
