Enhancing Patient Care: The Role of Precision Medicine in Practice

By Ryan J. Schmidt

This issue of Clinics in Laboratory Medicine focuses on the transformative power of precision medicine in practice, specifically highlighting the role of molecular diagnostics in enabling precision therapies. Curated by Dr. Ryan J. Schmidt, this volume is one of four selected each year by the series Consulting Editor, Milenko Tanasijevic.

Comprehensive Precision Medicine Program for Constitutional Genetic Disorders

Discover the key features of a comprehensive precision medicine program designed to address constitutional genetic disorders. This article delves into the importance of genetic testing, interpretation of results, and personalized treatment options.

Establishing a Precision Medicine Center of Excellence for Rare Disease

Learn how to establish a center of excellence for rare diseases, focusing on the infrastructure, personnel, and protocols necessary for providing cutting-edge diagnostic and therapeutic services to patients with rare conditions.

High-throughput DNA Sequencing for Rare Disease Diagnosis

Explore the role of high-throughput DNA sequencing in diagnosing rare diseases. This article discusses the technologies available, their applications, and the challenges associated with interpreting large datasets.

Enhancing Diagnosis through RNA Sequencing

Understand how RNA sequencing can enhance diagnostic capabilities, particularly in identifying potential therapeutic targets and monitoring treatment response.

Interpretation of Rare Genetic Variants

Dive into the complexities of interpreting rare genetic variants, including the use of bioinformatics tools, functional studies, and the importance of collaboration between researchers and clinicians.

Clinical Bioinformatics

Delve into the world of clinical bioinformatics, learning how computational tools and methods are used to analyze and interpret large datasets in precision medicine.

Precision Therapies for Retinal Dystrophy

Examine the latest advancements in precision therapies for retinal dystrophy, including gene therapy, stem cell therapy, and pharmacological interventions.

Precision Therapies for Muscular Dystrophy

Investigate the various precision therapies available for muscular dystrophy, focusing on gene editing technologies, gene replacement therapies, and small molecule treatments.

Therapeutic Gene Editing

Discover the potential of therapeutic gene editing, including CRISPR-Cas9 technology, its applications, and the ethical considerations surrounding its use.

High Throughput Functional Studies of Genetic Variants

Learn about the methods and technologies used in high throughput functional studies of genetic variants, crucial for understanding the biological impact of these variations.

Patient-specific Disease Models

Understand how patient-specific disease models are created and used to develop personalized treatment plans, improving patient outcomes and accelerating drug discovery.