3^rd Annual Congress on Rare Diseases and Orphan Drugs October 30-31, 2017
(10 Plenary Forums - 1 Event)
San Antonio, Texas, USA

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.

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.

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Dr. Harsha Rajasimha has over 15 years of experience and widely recognized in the field of Genomics, systems biology data integration standards, BigData analytics, data enabled life sciences, and precision medicine for cancer and rare disease diagnosis. Dr. Rajasimha is currently global head of life sciences R&D for NTT DATA Services (formerly Dell Services). He co-directs the center for metabolic and rare diseases at George Mason University. Earlier, he led the global strategy and business development for Strand Life Sciences, a CAP/CLIA laboratory and Bioinformatics powerhouse and precision medicine diagnostics company, between 2013 and 2016. Dr. Rajasimha founded Jeeva Informatics Solutions (www.Jeevadx.com) in 2013, a cloud based genomic data informatics Company that received the ‘Bioscience Company of the Year 2014’ award from Montgomery County, MD. He is co-founder and board member of the non-profit organization for rare diseases India (www.ordindia.org) and established mechanisms to accelerate rare disease diagnosis, public health policies and accessibility of treatments for patients in India. Dr. Rajasimha has led the development of some of the largest genomics projects including PathogenPortal, Pathosystems resource integration center, Cancer Biomedical Informatics Grid (caBIG), LIMS implementation at the FDA Office of Regulatory Affairs, architected Genome Explorer® a web-based platform for next-generation sequencing (NGS) data analysis for Genome International Corporation and Cyberinfrastructure development for National Eye Institute's genomics program. His contributions to the NGS program were recognized by NEI director’s innovation award in 2012. Dr. Rajasimha has authored over 15 peer-reviewed articles, book chapters, inventor on patents and is often invited speaker at international conferences and executive consultant/advisor to a number of biotech startups. He has contributed to global data standards initiatives such as BioPAX, DELSAGlobal, personalized medicine coalition, and the global alliance for genomics and health. He earned baccalaureate degree in computer science engineering from Bangalore University, Masters in Computer Science & Bioinformatics and Doctoral degree in interdisciplinary program genetics, bioinformatics and computational biology from Virginia Tech.

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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.

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Stella Blackburn has spent over 30 years in pharmacovigilance and pharmacoepidemiology in both regulatory and industry environments. Trained in medicine at Cambridge and London Universities she has an MSc in epidemiology from the London School of Hygiene and Tropical Medicine. At the European Medicines Agency she was responsible for developing risk management for Europe and was the lead author of the guidelines. She is passionate about optimizing the benefit risk balance of medicines and to helping bring medicines to patients with unmet medical needs – particularly those with rare diseases. She is a Visiting Scientist at the Center for Biomedical Innovation, Massachusetts Institute of Technology where she continues work on innovative methods for bringing medicines to market. She is a Fellow of the Royal College of Physicians of Edinburgh and a Fellow and Past President of the International Society of Pharmacoepidemiology.

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Dr. Jacques P. Tremblay received a PhD in Neuroscience from the University of California at San Diego in 1974. Since that time, he has been at Laval University as a postdoctoral researcher, Professor and Director of the Department of Anatomy. He is currently Full Professor in the Department of Molecular Medicine. He has published over 250 scientific articles on hereditary diseases. He has worked specifically on myoblast transplantation as a treatment for Duchenne muscular dystrophy. For the last 3 years he also worked on gene correction with the CRISPR/Cas9 technology for Duchenne muscular dystrophy, Friedreich's Ataxia and Alzheimer’s disease.

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Dr. Anton Yuryev received PhD in Molecular Biology and Genetics at Johns Hopkins University, Baltimore USA where he discovered proteins physically linking gene transcription and mRNA processing in eukaryotic cells. He has over 20 years of experience in bioinformatics. After finishing his post-doctoral training at Novartis Inc Dr. Yuryev worked as Senior Scientist at InforMax, then continued at Orchid Bioscience as Senior Bioinformatics Analyst, and then founded Ariadne Genomics where he worked as Senior Director of Application Science and participated in the development of natural language processing technology and Pathway Studio software. Dr. Yuryev has published more than 50 scientific publications, edited three scientific books, and authored several algorithms for primer design and pathway analysis. After Elsevier acquisition of Ariadne Genomics Dr. Yuryev works as Professional Services Director at Elsevier and responsible for development of targeted bioinformatics solutions using Elsevier software and knowledgebases in the areas of drug development, personalized medicine and agrobiology.

Dr. Yuryev’s research interests involve developing statistical models for drug repurposing, drug target prioritization and therapy optimization based on molecular mechanisms for all kinds of human malignancies including rare and complex diseases.