David de Lorenzo graduated in Biological Sciences from the University of Navarre and obtained his PhD from the Department of Genetics at the University of Barcelona. His research interests for the last 5 years have been centered on the understanding of the biological and environmental mechanisms underlying human complex traits, behavior and diseases. He recently served as Professor in the field of Genomics both at the Ludwig- Maximilians University of Munich and at the Medical School of the University of Lleida. His currently work focuses on the technology transfer process. He also teaches at the Education Sciences Institute of the University of Lleida and at the University of Navarra.

Dr. Cathleen Lutz, a practicing neuroscientist, heads the Mouse Models Repository at The Jackson Laboratory (JAX). Concerted efforts to develop and distribute models of rare disease led to the establishment of the JAX Rare and Orphan Disease Center, which provides a resource of mouse models for rare diseases and works with researchers to refine and study new models. Dr. Lutz also serves as a Research Scientist on the Genetic Resource Science team at JAX, which develops and distributes innovative research tools to the worldwide scientific community, in addition to mouse models. In this capacity, Dr. Lutz and her lab conduct research in collaboration with many partners to speed the treatment of disease. Dr. Lutz's laboratory focuses on modeling human neurodegenerative disease in mice, with an emphasis on optimum use and best practices for research and preclinical drug testing. The lab works with the NIH and multiple disease foundations to improve on existing mouse models, identify modifier genes, and generate new models that will facilitate therapeutic development. Their goal is to work with foundations, foundation partners and the scientific community to facilitate the rapid characterization, standardization and consistent use of mouse models, with the aim of accelerating treatment discovery. Current projects are focused on Spinal Muscular Atrophy (SMA), Friedreich's Ataxia, amyotrophic lateral sclerosis (ALS), and Rett syndrome.

Tim McCaffrey, Ph.D. received his B.A. from St. Mary's University, and his Masters and Doctorate from Purdue University. He received Post-Doctoral training and later founded the Genomics Core Facility at Weill/Cornell Medical School and served as Director of Research in the Division of Hematology/Oncology. In 2001, he relocated to The GW Medical Center where he co-founded The McCormick Genomics Center. He was awarded a prestigious MERIT Award from the NIH for his work on the molecular genetics of vascular aging. His research interests include the molecular mechanisms of vascular aging, with special emphasis on the control of apoptosis in the human atherosclerotic lesion. Using genomic methods, his lab has recently identified the importance of the Bcl-X and Mcl-1 pathways in regulating apoptosis in human lesion cells. Inhibitors of Bcl-X are being pursued as potential therapeutics for drug-eluting stents. A major research interest is the genomic profiling of blood by next-generation sequencing, which is being pursued as a possible diagnostic strategy for various cardiovascular diseases. In addition to his research interests, he serves as an Associate Editor for the Journal 'Gene', and is The Director of the Division of Genomic Medicine at GWU. He serves on the Board of Trustees of The Heart and Vascular Institute at GWU and is a member of the Science Advisory Board for the Katzen Cancer Center.

Rebecca Lackman is a Program Officer with Grand Challenges Canada. Dr. Lackman leads the Point-of-Care Diagnostics portfolio (Grand Challenge 2) and supports the development and implementation of other Grand Challenges Canada initiatives. Before joining Grand Challenges Canada, Dr. Lackman worked as a Senior Consultant at SHI Consulting Inc., where she supported the strategic and business planning needs of a spectrum of academic/hospital, industry, not-for-profit and government clients across the global health and life sciences. r. Lackman completed her BSc In biochemistry (Honours, with Great Distinction) at Concordia University's Institute for Cooperative Education, completing work terms at a start-up biotech, a multinational pharmaceutical company and a government research institute. Dr. Lackman earned her PhD in cell biology and immunology from Yale University and currently serves as a member of the Scientific Advisory Group for the Ontario Genomics Institute.

Harsha K. Rajasimha, MS, Ph.D., is currently Sr. Director of Bioinformatics and translational research at Dovel Technologies, affiliate faculty member at the school of systems biology at George Mason University, and a NGS consultant at Genome International Corporation. He has played key roles in multiple large multidisciplinary bioinformatics and genomics projects with over ten years of combined research and development experience in academia, government and industry. His work has spanned technical, scientific and leadership roles in Bioinformatics, microbial genomics, microarray data analysis, next-generation sequencing (NGS) data management and analysis, CyberInfrastructure design and implementation to support NGS platforms, laboratory information management systems (LIMS), cancer biomedical informatics grid (caBIG), the biological pathway exchange (Biopax) consortium, heterogeneous data integration, systems biology, providing NGS data analysis services to academic institutions, development of software tools for analysis and visualization of NGS data. He has published as a major author on applying high throughput RNA-seq and DNA-seq data analysis methods and pipelines to understand development, aging and diseases. He is driven by the challenges and opportunities to advance personalized medicine into the clinic and is pleased to support the rare diseases patient/research community.

Bioanalytical expert with over 15 years of research and development experience, resulting in numerous publications, patents, and innovations that propel the advancement of science, medical treatment, and patient care. Strong scientific background, research capabilities, and business acumen that drive effective laboratory operations and project management. Serve as a proactive leader and team collaborator, motivate staff and establish a cohesive environment focused on accountability. Present complex information to diverse audiences as a technical subject matter expert (SME). Rare disease drug development expert with many years experience successfully driving projects.

Kara Bernstein is currently an Assistant Professor of Microbiology and Molecular Genetics at the University of Pittsburgh School of Medicine. Her work focuses on understanding the molecular basis of cancer using genetics and live-cell imaging techniques. Dr. Bernstein received her Ph.D. from Yale University in 2006 and subsequently pursued post-doctoral training at Columbia University from 2006-2011.

Dr Grierson received a BSc in Genetics (1991) and a PhD in Molecular Biology (1994) from the University of Sheffield. He then did postdoctoral work in Amsterdam and London before returning to Sheffield in 2001. His research interests include developing and characterising zebrafish and mouse models of human neurological disorders, and using these model systems for preclinical therapy development.

Bob Dunstan obtained his BS from the University of Notre Dame, his DVM from Purdue University, an MS in Pathology from Michigan State University and is a Diplomate of the American College of Veterinary Pathologists. He has served as a full professor at Michigan State University and then at Texas A&M University where he specialized in comparative dermatopathology and the molecular biology of genetic skin diseases of animals. He then moved to Pfizer in Ann Arbor, MI as Head of Investigative Pathology and while there, led a global initiative on virtual microscopy and high throughput image analysis. In 2007, he moved to Biogen Idec, Cambridge, MA where he is a Distinguished Investigator heading the Comparative Pathology Laboratory. There he specializes in immunohistochemistry, morphometry and its applications to neoplastic, autoimmune and neurodegenerative diseases.

I obtained a PhD from the University of British Columbia, Canada from the Faculty of Medicine. My research focused on the mechanism and function of hematopoietic stem cell migration. During my PhD, I was a member of the International Society of Stem Cell Research and the National Stem Cell Network. After my PhD, I worked for a stem cell biotech company where I was a Product Manager for the company's flagship products for human embryonic and induced pluripotent research. Currently, I am the Founder and CEO of Innoguidance Consulting, a firm that provides customized marketing and business strategies to companies in the life science sector, primarily focused on stem cell and cancer stem cell research.

Te-Wen Lo is currently a post-doc in the Meyer lab at UC Berkeley. Her research is focused on understanding how mechanisms that control sex-specific chromosome-wide gene repression have evolved across nematode species. In order to facilitate these cross-species studies, she has also developed custom-designed nuclease technology (ZFNs and TALENs) to enable the creation of targeted, tailored mutations in different species. Te-Wen received her Ph.D. in Genetics from Yale University and her B.A. from New York University.

Andreas Zanki is an Associate Professor and clinical geneticist at the University of Queensland in Brisbane, Australia. His research focuses on improving diagnosis and management of bone dysplasias, which are genetic disorders affecting the development of the skeleton. He regularly sees patients with bone dysplasias at the Mater Children's and Royal Children's Hospital, where he has established a bone dysplasia clinic. He also runs a lab that is seeking to understand the genetic defects that cause bone dysplasias and how they affect bone development. Additionally, the lab uses bioinformatic methods to integrate clinical and laboratory data on bone dysplasias to make the data more accessible and to find new interactions.

Ming Guo was trained on bioinformatics and statistics from Stanford University. She is leading the organization effort of numerous scientific conferences in life science informatics and information technology field. Her current research interest lies in finding disease relatedness through large-scale genetic and clinical data mining. She previously worked in Cincinnati Children’s Hospital as a statistician and Goodyear Tire Company as a training manager.

Timothy Schwartz is a molecular biologist with extensive experience in clinical diagnostic R&D, Next Generation Sequencing (NGS), DNA repair, oncology, gene therapy/editing, translational medicine, and industrial microbiology. He is currently the Chief Operating Officer of Otogenetics Corporation, which offers NGS technology for genome, exome, RNA, and a variety of clinical disease panels. Otogenetics develops technologies that enable commercialization of large-scale genetic diagnostic information in a disease-specific manner (e.g., deafness-causing, cancer-related, etc.) for both research and clinical purposes. Their mission is to become a leader in the personalized genetic diagnostic market through the development of core technologies and by providing large-scale disease-specific genetic analysis services for both the research and clinical communities. Timothy received his Ph.D. in molecular biology and genetics from the University of Delaware, and previously worked to engineer bacterial production strains for nanobiotechnology and fermentation goals at the Dupont Company, and more recently as a CLIA laboratory scientist developing new clinical diagnostic assays for rare human disease.

Sean Wu is an Assistant Professor of Medicine at the Stanford University School of Medicine. In addition to being a current and active member of an assornment of editorial boards ranging from 'Frontiers in Pharmacotherapy of Cardiovascular Disorders' to 'The World Journal of Stem Cells', his current research seeks to identify mechanisms regulating cardiac lineage commitment during embryonic development and the biology of cardiac progenitor cells in development and disease. "We believe that by understanding the transcriptional and epigenetic basis of cardiomyocyte growth and differentiation, we can identify the most effective ways to repair diseased adult hearts. We employ mouse and human embryonic and induced pluripotent stem cells as well as rodents as our in vivo models for investigation."

Mrinmoy Sanyal is a researcher at the Stanford University School of Medicine where is currently researching T cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) and Immune effector cell dynamics in patients with chronic rhinosinusitis. Prior to this he was previously member of both the Academic Staff of the Department of Pediatrics in Division of Immunology and Stanford University School of Medicine and the Department of Medicine at Division of Oncology of Stanford University School of Medicine. He has been a regular and active member of the American Physiological Society, the American Society of Hematology and the International Society for Stem Cell Research for over ten (10) years. He also recently become a member of the Federation of Clinical Immunology Societies.

Dr. Frank Slack received his B.Sc from the University of Cape Town in South Africa, before completing his Ph.D in molecular biology at Tufts University School of Medicine. He started work on microRNAs as a postdoctoral fellow in Gary Ruvkun’s laboratory at Harvard Medical School, where he co-discovered the second known microRNA, let-7 and the first known human microRNA. He is currently a Professor in the Department of Molecular, Cellular and Developmental Biology at Yale University. The Slack laboratory studies the roles of microRNAs and their targets in cancer, development, and aging.

I am a Basic Research Scientist at NIH who has been working with C. elegans since 1990. For the past 15 years, my focus has been genetic screens for genes involved in the meiotic divisions of the fertilized oocyte, fertilization, and early embryonic development. My experience with suppressor screens suggests that, at least in C. elegans and likely higher organisms, the phenotypes associated with the loss of gene activity can be "suppressed" when secondary genes are also perturbed. Thus in the absence of gene replacement, altering the expression of other functional genes may serve as a useful therapy to alleviate the harmful effects of a specific disease gene mutation. It is this strategy that I am planning to test in C. elegans using orthologs of human disease genes. I will carry out suppressor screens in C. elegans defective in its expression of a human disease gene ortholog. The suppressors that are isolated can be identified molecularly and their function in the specific disease gene pathway can be determied. Ideally, suppressing the expression of the human ortholog in patients will prove therapeutic in the future.

David Mittelman completed his graduate studies at Baylor College of Medicine, where he received his Ph.D. in 2007. Prior to graduate school, he was a member of the research staff in the McDermott Center for Human Growth and Development, at UT Southwestern Medical Center. After his graduate studies, Dr. Mittelman completed his postdoctoral training in the Department of Human and Molecular Genetics at Baylor College of Medicine. In 2009, Dr. Mittelman was awarded the Ruth L. Kirschstein National Research Service Award, and began an independent research program at the Human Genome Sequencing Center at Baylor. Currently, Dr. Mittelman is an associate professor at the Virginia Bioinformatics Institute and an associate professor in the Department of Biological Sciences at Virginia Tech.

Board-certifications in Neurology, Clinical Neurophysiology, and Neuromuscular Medicine, with clinical practice in neuromuscular diseases (including muscular dystrophy and myopathies, hereditary and acquired neuropathies, amyotrophic lateral sclerosis). Current research focuses on exome and genome sequencing for novel gene discovery in neuromuscular disease.

Huey Fang Teh obtained her BS from the National University of Malaysia and her Ph.D. from Nanyang Technological University, Singapore. She then did postdoctoral work in The Institute of Materials Research and Engineering (IMRE), a research institute of the Science and Engineering Research Council (SERC) under Agency for Science, Technology and Research (A*STAR), Singapore before returning to Malaysia in 2007. She now work as chief scientist in the Department of Chemical Biology & Informatics, Sime Darby Technology Centre Sdn. Bhd. Her current research is focused on metabolomics and Omics Integration study.

I received my PhD in electrical and computer engineering from McMaster University in Hamiton, Ontario, Canada. After spending a number of years of research and development in industry, I joined the Dept. of Cell and Systems Biology at the University of Toronto, Canada to start my career in computational biology as a postdoctoral fellow. I later joined the Ontario Institute for Cancer Research to work on cancer biology and the application of next generation sequencing technologies in biomarker discovery. Due to having a background in engineering, I am mainly interested in applying mathematical methods to solve computational biology problems.

Professor SantaLucia is best known for his work on deciphering the rules for nearest-neighbor thermodynamics of DNA. His current research focuses on investigation of the mechanism of PCR, the thermodynamics and kinetics of nucleic acid hybridization and folding, and applications to genomics and DNA diagnostics. He has published more than 50 papers and edited 1 book. His work has been cited more than 5000 times.

Brad Smith currently is a VP of Translational Medicine within the Center for Integrated Drug Development at Quintiles Transnational, the leading CRO supporting drug development throughout the globe. In this position, Brad supports clinical, laboratory and biomarker strategies for drug development as well as the development of innovative tools for targeted drugs and companion diagnostics. Previously, Dr. Smith led Corporate Development, focused on new diagnostic and clinical partnerships and markets at Cell Signaling Technology, an innovative biotechnology company in the life sciences field. His previous positions at Cell Signaling Technology include management of antibody and clinical assay development departments. Previous to Cell Signaling Technology, Dr. Smith directed product development and production at Santa Cruz Biotechnology, helping to build that company into one of the largest supplier of research tools for basic research. Dr. Smith's scientific background includes research positions at Stanford University and University of California, San Francisco focused on cellular signaling mechanisms of disease. Dr. Smith holds a Doctoral degree from Stanford University and Master’s and Bachelor’s degrees from University of California, Santa Cruz. Dr. Smith resides in Marblehead, MA with his wife and two young children.

Dr. Michael Stern, is a Professor of Biology and Associate Dean of the Graduate School at the University of Central Florida. Prior to coming to UCF in 2007, Dr. Stern was a faculty member in the Department of Genetics at Yale School of Medicine for sixteen years, where his laboratory used molecular-genetic approaches to study various aspects of the developmental biology of the nematode C. elegans. His biological interests have focused on how biological signals tell cells where to move to within living organisms so they end up in the right place at the right time. His computational interests lie in developing modeling methodologies to represent biological systems, with the goal of enhancing our understanding of these systems via the formalization and integration of the increasingly complex array of available biological data.

Samir L. Aleryani is an assistant Professor at the Department of Pathology, Microbiology and Immunology and the Medical Director of Laboratory Support Services at Vanderbilt University. His research is focused in the study of pathogenesis of the cystic fibrosis (CF). CF is the most common inherited disorder affecting Caucasians in the United States. It is is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR). These mutations cause a multitude of pulmonary, gastrointestinal, and endocrine defects leading to significant morbidity and early mortality.