Título del libro: Genomics Of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches
Título del capítulo: Challenges and opportunities in rare diseases research
CLAUDIA GABRIELA GONZAGA JAUREGUI;
Autores externos:
Idioma:
Año de publicación:
2021
Palabras clave:
genomic representation; genomic sequencing; molecular therapy development; precision health; precision medicine; Rare diseases
Resumen:
In the last three decades, the development and implementation of genomic approaches and technologies have transformed the study of human genetics, disease, and health. Specifically, the study of seemingly rare genetic disorders and the identification of their molecular underpinnings have been revolutionized by the implementation of genomic sequencing of patients and families. However, beyond this great progress, much work remains to better characterize disease-associated variation in the human genome, identify the molecular causes of the remaining described and yet-to-be-discovered genetic disorders, understand the pathophysiology of the myriad of rare diseases, appreciate the complexity of human biology unfolding before us, and utilize this knowledge to provide better molecular diagnostics, management and therapeutic options to patients living with genetic disorders. In this chapter, some of the major current challenges in the study of rare diseases and some potential paths forward that are being or could be applied to address these are discussed. Furthermore, the benefits and opportunities provided by the study of rare genetic disorders from novel gene discovery to drug development are highlighted. © 2021 Elsevier Inc. All rights reserved.
Entidades citadas de la UNAM:
ISBN:
9780128201404
Editorial:
Elsevier Nombre de la publicación:
Challenges and opportunities in rare diseases research
Página inicial:
263
Página final:
284
