Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine (Volume 40-2)

Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine (Volume 40-2)

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Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies, An Issue of the Clinics in Laboratory Medicine (Volume 40-2)

By Ryan J. Schmidt
This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

By Ryan J. Schmidt
This issue of Clinics in Laboratory Medicine will cover Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies. Curated by Dr. Ryan J. Schmidt, this issue is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic. The volume will include articles on: Features of a Comprehensive Precision Medicine Program for Constitutional Genetic Disorders, Establishing a Precision Medicine Center of Excellence for Rare Disease, High-throughput DNA Sequencing for Rare Disease Diagnosis, Enhancing Diagnosis through RNA Sequencing, Interpretation of Rare Genetic Variants, Clinical Bioinformatics, Precision Therapies for Retinal Dystrophy, Precision Therapies for Muscular Dystrophy, Therapeutic Gene Editing, High Throughput Functional Studies of Genetic Variants, and Patient-specific Disease Models.

Product Details

  • Publisher ‏ : ‎ Elsevier; 1st edition (4 June 2020)
  • Language ‏ : ‎ English
  • eBook Digital ‏ : ‎ 240 pages
  • ISBN-10 ‏ : ‎ 0323758452
  • ISBN-13 ‏ : ‎ 978-0323758451

Precision medicine is transforming the field of healthcare, offering personalized treatments based on an individual’s unique genetic makeup. This cutting-edge approach has the potential to revolutionize the way we diagnose and treat diseases, leading to improved patient outcomes and more targeted therapies. In the Clinics in Laboratory Medicine’s issue titled “Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies”, Dr. Ryan J. Schmidt explores the latest advancements in precision medicine and its practical applications in molecular diagnosis.

As the Consulting Editor, Milenko Tanasijevic, handpicks four select issues every year, the fact that this issue on precision medicine was chosen speaks volumes about its significance in the field. With contributions from leading experts in the field, this volume covers a wide range of topics related to precision medicine, offering a comprehensive overview of the current state and future directions of this rapidly evolving field.

One of the key areas covered in this issue is the establishment of a comprehensive precision medicine program for constitutional genetic disorders. Genetic disorders are often rare and complex, making their diagnosis and treatment challenging. This article delves into the features that make up an effective precision medicine program, outlining the necessary infrastructure, technologies, and expertise required to deliver personalized care to patients with genetic disorders.

Another important topic covered in this volume is the use of high-throughput DNA sequencing for rare disease diagnosis. Next-generation sequencing technologies have revolutionized the field of genetics, enabling the rapid and cost-effective analysis of an individual’s entire genome. This article explores how these technologies can be leveraged to identify rare genetic variants associated with various diseases, facilitating accurate diagnosis and personalized treatment strategies.

In addition to DNA sequencing, the use of RNA sequencing is discussed as a tool to enhance diagnosis. RNA sequencing provides valuable insights into gene expression patterns and can help identify abnormal gene expression in diseases. By analyzing the transcriptome, researchers and clinicians can gain a deeper understanding of disease mechanisms and develop more targeted therapeutic interventions.

Interpretation of rare genetic variants is also a crucial aspect of precision medicine. With the ever-expanding catalog of genetic variations, it is essential to accurately determine the clinical significance of rare variants. This article explores various bioinformatic tools and approaches used to interpret genetic variants and highlights the challenges and limitations associated with variant interpretation.

Clinical bioinformatics is another key theme discussed in this volume. The integration of clinical data with genomic information is essential for effective precision medicine. This article examines the role of bioinformatics in clinical decision-making, data analysis, and the development of predictive models that can guide treatment decisions.

Moving beyond diagnostics, this volume also explores precision therapies for specific diseases. Retinal dystrophy and muscular dystrophy are two examples discussed in detail, highlighting the potential of precision treatments to mitigate the effects of these debilitating conditions. The use of therapeutic gene editing techniques is also explored, offering a glimpse into the future of precision medicine where genetic mutations can be corrected to restore normal cellular function.

The issue also covers high throughput functional studies of genetic variants and patient-specific disease models. These topics shed light on the experimental methods used to examine the functional consequences of genetic variants and how they can be used to develop personalized treatment strategies. Patient-specific disease models, such as organoids and induced pluripotent stem cells, offer a unique opportunity to study diseases in a controlled environment, facilitating the development of targeted therapies.

In conclusion, the Clinics in Laboratory Medicine’s issue on Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies is an invaluable resource for healthcare professionals, researchers, and individuals interested in understanding and implementing precision medicine in their practice. The diverse range of topics covered in this volume provides a comprehensive overview of the current state of precision medicine and offers insights into its future potential. By staying up-to-date with the latest advancements presented in this issue, readers can enhance their understanding of precision medicine and contribute to the advancement of personalized healthcare.

If you are intrigued by the promises of precision medicine and want to delve deeper into this fascinating field, be sure to order your copy of Precision Medicine in Practice: Molecular Diagnosis Enabling Precision Therapies today. This comprehensive volume, curated by Dr. Ryan J. Schmidt, will equip you with the knowledge and insights needed to navigate the complex world of precision medicine and harness its potential for improved patient outcomes. Don’t miss out on the opportunity to be at the forefront of this medical revolution. Order your copy now and join the revolution in personalized healthcare.

Product Details

  • Publisher ‏ : ‎ Elsevier; 1st edition (4 June 2020)
  • Language ‏ : ‎ English
  • Hardcover ‏ : ‎ 240 pages
  • ISBN-10 ‏ : ‎ 0323758452
  • ISBN-13 ‏ : ‎ 978-0323758451

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