Genomics of Rare Diseases

Claudia Gonzaga-Jauregui grew up in Mexico where she did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contribute to human traits and diseases. Her current research focuses on family-based analyses of rare and common genetic disorders to better understand disease pathophysiology. Claudia believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Claudia has dedicated great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases. Jim Lupski is Cullen Professor of Molecular and Human Genetics and Professor of Pediatrics. He received his initial scientific training at Cold Spring Harbor Laboratory as an Undergraduate Research Participant (URP) and at New York University receiving his undergraduate degree in chemistry and biology (1979), completing the MD/PhD program in 1985. In 1986, moved to Houston, Texas for clinical training in pediatrics (1986-1989) and medical genetics (1989-1992), then establishing his laboratory at Baylor College of Medicine. Jim is an elected member of AAAS (1996), ASCI (1998), IOM/NAM (2002), and American Academy of Arts and Sciences (2013). For his work in human genomics and elucidation of genomic disorders, he received a DSc honoris causa in 2011 from the Watson School of Biological Sciences at CSHL. He has co-authored > 800 scientific publications, co-edited 3 books including the definitive text on genomic disorders, is a co-inventor on more than a dozen patents and delivered over 536 invited lectures in 38 countries.

• 1. Introduction to concepts of genetics and genomics 2. Karyotyping as the first genomic approach 3. Genomic disorders 4. Genomic sequencing of rare diseases5. Recessive diseases and founder genetics 6. Dominant and de novo disorders7. X-linked and mitochondrial disorders8. Mosaicism in rare disease 9. Dual diagnoses of rare disorders 10. Statistical approaches to rare disease analyses11. Transcriptomics in rare diseases 12. Other omics approaches to the study of rare diseases13. Challenges and opportunities in rare diseases research

"This timely and well-written book is a useful addition to a dynamic field of study that has changed markedly over the last two decades. It provides an accurate picture of the current state of genomics as applied to the study of human hereditary disease. The field will continue its rapid evolution, and this book provides a way for a variety scientists and medical practitioners to gain entry into the field, whether for the purpose of research or the practice of medicine." --© Doody Review, 2021, Mark F. Sanders, PhD, reviewer, expert opinion"This is an exceptional book for clinicians, clinical laboratorians, and clinical researchers at many different levels. It employs specific diseases and phenotypes to illustrate important genetic concepts and educate about laboratory approaches to genetic diagnosis and gene discovery. The chapters are succinct and well-organized, and the many color illustrations enhance the readers’ comprehension of even the most arcane and complex genetic and genomic phenomena. Similarly, chapters on the laboratory approach to diagnosis provide practical information on various genetic and genomic platforms and describe the underlying technologies, providing the reader the tools to understand and apply genomic analyses in both the clinical and research setting ." -- V. Reid Sutton, M.D., Professor of Molecular & Human Genetics, Baylor College of Medicine