Virtual Rare Disease Summit 2022（バーチャル希少疾患サミット2022）

Professor Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew's Hospital. At the Queen Mary University of London, Professor Caulfield has made substantial contributions to discovering genes related to blood pressure, cardiovascular health, cancer and rare diseases. From 2002 to 2020, he worked as the Director of Queen Mary's William Harvey Research Institute. Professor Sir Mark Caulfield was elected as a Chief Scientist for Genomics England in 2013. For his leadership on the 100,000 Genomes Project on whole-genome sequencing in rare disease, cancer and infectious diseases, Professor Caulfield was awarded a knighthood in 2019.

Professor Sir Mark Caulfield holds a dual role as a Professor of Clinical Pharmacology at the Queen Mary University of London and the CEO of Barts Life Sciences. Since January 2022, Professor Sir Mark has been Vice-Principal for Health at the Queen Mary's Faculty of Medicine and Dentistry.

Iddo Magen is a senior scientist in Prof. Eran Hornstein's lab at the Department of Molecular Genetics and Neuroscience in the Weizmann Institute of Science (Israel). He received his Ph.D. in Pharmacy at the Hebrew University of Jerusalem in 2009. After his Ph.D., he completed a post-doctoral fellowship in Neurobiology in 2012 at UCLA, under the supervision of Marie-Françoise Chesselet. Dr. Magen joined the Weizmann Institute in 2013 as a Post-doctoral Fellow and has been working as a Staff Scientist since 2016. Dr. Magen's research focuses on developing biomarkers in biofluids of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), spinal muscular atrophy (SMA) and spinal and bulbar muscular atrophy (SBMA).

Dr.Atil Bisgin, MD, PhD holds a dual role as the head of the AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) InfoGenom-AB initiative and is the acting head of the Medical Genetics Department of Medical Faculty and in Cukurova University, Adana, Turkey. He has received several awards and prizes, with the most recent award from AACR for adopting NGS technology in cancer diagnostics and showcasing its clinical utility. Currently, he is involved in global molecular testing strategies. He also plays a pivotal role in developing genetic testing services and ensures their translation to clinical-based projects. Dr. Bisgin has more than 100 published papers and has been very active with his international research collaborations focusing on rare disease diagnosis and treatments.

Peter Hahn is an Associate Director of R&D at the NGS Technology Department at QIAGEN. Dr. Hahn received his Ph.D. in Cellular and Molecular Virology from the University of the Saarland. Peter joined QIAGEN in 2002 as an R&D Scientist working on kits and applications for Gene Silencing. Since 2012, Peter has been working on NGS kit development and is currently leading a team responsible for library preparation kit development focusing on the whole genome, exome, and hybrid capture-based sequencing applications.

Dr. Araceli Cuellar is a Field Application Scientist in the QIAGEN Digital Insights team. Prior to joining QIAGEN, Araceli was a post-doctoral scholar and focused on BMP/TGF-β variants for rare pediatric craniofacial conditions using molecular, genetic and functional approaches. Araceli received her PhD in Integrative Pathobiology from the University of California, Davis analyzing the BMP signaling pathway in pediatric bone tumors of rare hereditary diseases.