Spinal muscular atrophy: disease mechanisms and therapy

Spinal Muscular Atrophy (SMA), characterized by motoneuron loss and muscle atrophy, is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in basic understanding of disease mechanisms as well as in therapeutic development. Spinal Muscular Atrophy: Disease Mechanisms and Therapy is a comprehensive reading of recent advances in basic and clinical research. The book covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, biomarkers, as well as current therapeutic development.

This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated of recent findings and approaches, and also those who are new to, or would like to join, the field. Likewise, Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides an excellent source of readings for biotech/pharma scientists, clinical researchers and practitioners, regulators, as well as patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases.

• Provides comprehensive up-to-date reviews by leading investigators on diverse topics of SMA including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, as well as the role of non-profit organizations in therapeutic development
• Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers and health care providers on the latest development in SMA
• Chapters include outstanding questions/perspectives for future investigations and key references for additional detailed study