Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) - Softcover

Über die Autorinnen und Autoren

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.

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It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major susceptibility factor for developing the disease. Many patients can go undiagnosed for decades while receiving inappropriate and costly treatments for their condition uninformed by the actual molecular defect and the underlying biology of disease.

series, offers readers a broad but deep understanding of our current knowledge of rare diseases through a genomics lens and examines what this teaches us about disease biology. A clear understanding of the latest molecular and genomic technologies that have already been used to elucidate the molecular causes of more than 5,000 genetic disorders will bring readers closer to unraveling the many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that studying these disorders provide for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders, and mosaicism.