Genomics of Rare Diseases

Genomics of Rare Diseases

Understanding Disease Genetics Using Genomic Approaches

1st Edition - June 12, 2021

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  • Editors: Claudia Gonzaga-Jauregui, James R. Lupski
  • Paperback ISBN: 9780128201404
  • eBook ISBN: 9780128204368

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Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides 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.

Key Features

  • Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes
  • Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions
  • Explores opportunities for novel therapeutics
  • Features chapter contributions from leading researchers and clinicians


Active researchers; basic and translational scientists; clinicians in the areas of rare disease, human genetics, human genomics; translational researchers in genetic and genomic medicine, epigenetics, neuroscience, internal medicine, oncology, psychiatry, neurology, immunology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; rare disease specialists; fertility specialists; bioethicists; hospital administrators

Table of Contents

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

Product details

  • No. of pages: 316
  • Language: English
  • Copyright: © Academic Press 2021
  • Published: June 12, 2021
  • Imprint: Academic Press
  • Paperback ISBN: 9780128201404
  • eBook ISBN: 9780128204368

About the Editors

Claudia Gonzaga-Jauregui

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.

Affiliations and Expertise

International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Mexico

James R. Lupski

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.

Affiliations and Expertise

The Cullen Professor of Genetics and Genomics and Professor of Pediatrics, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United States

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