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

550 1,150 

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.

  • 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

 

 

Buy online Medical books at Gangaram Jinnah Medical Books Shop for home delivery and Cash on delivery to all over Pakistan. All kind of medical books are available.

Description

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

By  Claudia Gonzaga-Jauregui (Editor), James R. Lupski (Editor)

  • Key Focus:
    • Offers insights into the molecular and genomic technologies used to uncover the causes of over 5,000 genetic disorders.
    • Aims to help unravel many rare diseases that are still undefined or undiscovered.
  • Challenges & Opportunities:
    • Discusses the challenges of conducting research on rare diseases.
    • Explores how studying these diseases enhances understanding of disease architecture and pathophysiology.
  • Approaches Covered:
    • Karyotyping and genomic sequencing for diagnosing and treating:
      • Recessive diseases
      • Dominant and X-linked disorders
      • De novo mutations
      • Sporadic disorders
      • Mosaicism

 

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) Now Available at Ganagaram Jinnah Medical Bookshop For home delivery and Cash on delivery to all over Pakistan.

Buy online Medical books  at Gangaram Jinnah Medical Books Shop for home delivery and Cash on delivery to all over Pakistan. All kind of medical books are available.

Additional information

Quality

Black & white, Colour Matt Finish

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