3^rd World Congress on Rare Diseases & Orphan Drugs September 27-28, 2023 Amsterdam, Netherlands

Romina Ortiz completed her Bachelor’s and Master’s degrees at Johns Hopkins University in Neuroscience and Molecular Microbiology and Immunology, respectively. Her thesis focused on the interplay between the microbiome and hormones in autoimmune disease. She is a co-founder of Rare Genomics Institute (RG), COO and VP of Patient Advocacy at RG. In 2016 she was awarded the Patient Advocacy Leadership award by Sanofi Genzyme. She trains volunteers on the topics of Genetics and Sequencing, directs a Patient Advocacy Program in next generation sequencing and research services to undiagnosed and rare disease patients and currently directs a philanthropic program with Illumina called iHope, offering free whole genome sequencing to children in need of a diagnosis.

Her goal is to integrate phenotypic medical information with genomic data to identify the genetic cause to disease and accelerate the path to treatment and a cure.

Dr. David Dongliang Ge is CEO and President of Apostle. Apostle Inc is a biotechnology company in Sunnyvale, CA focusing on novel bioinformatics-enabled nanotechnologies for cancer early detection. Previously, he was President of BioSciKin Co. and Simcere Diagnostics Co., two global biotechnology companies headquartered in Nanjing, China focusing on the licensing and sales of diagnostic technologies. Between 2011 and 2016, he was Director of Bioinformatics at Gilead Sciences, where he founded and provided leadership to the bioinformatics group and provided the strategic input to related infrastructure and process. Dr. Ge and his group led the phylogenomic analytical support for the critical regulatory approval of Sovaldi, a world-leading anti-HCV drug. In 2014 and 2015, Dr. Ge was invited to be a member of the U.S. National Human Genome Research Institute Special Emphasis Panel. Prior to Gilead, he was appointed as Assistant Professor of Biostatistics and Bioinformatics and Assistant Professor in Medicine at Duke University School of Medicine. He received his Ph.D. of Biostatistics and Genetic Epidemiology from Peking Union Medical College and Chinese Academy of Medical Sciences in 2004. Dr. Ge’s work in discovering the IL28B genetic variants associated with the clinical treatment responses, published in Nature in 2009, has received over 3000 times of citations to date. The invention was licensed to LabCorp and Quest Diagnostics, and has become clinical diagnostic services since then (LabCorp 480630 and Quest AccuType® IL28). The U.S. FDA has cited this ground-breaking discovery in several of the agency’s guidance for industry. Dr. Ge has authored or co-authored over 70 peer-reviewed articles, among which are 5 articles in Nature and 1 in Science, in total receiving over 15,000 citations. Dr. Ge was named by the U.S. Genome Technology magazine as one of the “Rising Stars” in 2009, and by the U.K. Phacilitate as one of the "Top 50 Most Influential People in Big Data" in 2015. OCM Member Daniel Cohen Pharnext France OCM Member Harsha Rajasimha Organization for Rare Diseases India USA OCM Member Amrik Sahota Rutgers University USA OCM Member Jane Larkindale Critical Path Institute USA OCM Member Stella Blackburn QuintilesIMS UK OCM Member Jacques Tremblay Laval University Canada

National Human Genome Research Institute Special Emphasis Panel.

Daniel Cohen , MD Phd, former Professor of Medical Genetics in Paris University has authored more than 150 peer reviewed papers in hire wired Journal , including the first integrated map of the Human Genome back in the 90’s. While he has discovered or co discovered numerous genes for rare and common diseases, he has also pioneered several key technologies like Large Scale Biology at Genethon, he cofounded in France, but also Pharmacogenomics, Genome Wide Association Studies and Network Pharmacology. He was a confounder of Millenium pharmaceuticals in Boston, MA. He is now Chairman, CEO and cofounder of the France Based company, Pharnext, focusing on treatment of unmet Neurodegenerative disorders by using Network Pharmacology.

orphan genetic

Amrik Sahota is a professor in the Department of Genetics, Rutgers University, Piscataway, NJ. He is also a clinical professor in the Department of Pathology and Laboratory Medicine and in the Division of Urology, Department of Surgery, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ. Dr. Sahota is a fellow of the American College of Medical Genetics and Genomics, National Academy of Clinical Chemistry, Royal Society of Biology (UK), and the Royal College of Pathologists (UK). He is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics and in molecular diagnostics by the American Board of Clinical Chemistry.

Dr. Sahota’s research interests are in genetic disorders of urolithiasis, mouse models for human disease, and molecular diagnostics.

Jane Larkindale, DPhil, is the Executive Director for the Duchenne Regulatory Science Consortium at the Critical Path Institute in Tucson, Arizona, concurrently serving as the Vice President for Research Development at the Friedreich’s Ataxia Research Alliance. She is a molecular biologist by training, having completed her DPhil (PhD) in the department of plant sciences at Oxford University in 2001, which she attended on a Rhodes scholarship. In the laboratory, she did research in areas as diverse as molecular biology, biochemistry, genomics, plant science, medical physics, marine biology, and industrial chemistry. In the course of this research, she published numerous original research papers and review articles in several disciplines.

Research Development at the Friedreich’s Ataxia Research Alliance.