Seeking Cures Design of Therapies for Genetically Determined Diseases

Progress in molecular and cellular biology has greatly enhanced our ability to accurately diagnose diseases that are caused by gene mutations, changes in genome structures, and altered gene expression; increased emphasis is now placed on translational research the clinical treatment of these genetically determined diseases. Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. Also considered are aspects of treatment at the cellular level (e.g., those with hematopoietic stem cells or induced pluripotent stem cells). Topics covered in this text include: · outline of the processes typical for identifying disease-modifying therapies · examples of newer therapeutic approaches in use or under investigation to treat lysosomal storage diseases, inborn errors of metabolism, mitochondrial functional defects, and specific monogenic diseases · therapeutic designs for specific complex common diseases, including Alzheimer's disease, cancer, and autism Through these specific examples, Seeking Cures provides a glimpse at the pursuit-and future-of personalized medicine.

Preface; Chapter 1: Introduction and History; Chapter 2: Therapy: design and general approaches; Chapter 3: Inborn errors of metabolism: progress in diagnosis and treatment; Chapter 4: Lysosomal storage diseases and therapies; Chapter 5: Mitochondrial function, defects and approaches to treatment; Chapter 6: Protein misfolding, endoplasmic reticulum stress and pathogenesis of disease; Chapter 7: Transporters and solute carriers: passage of molecules across membranes; Chapter 8: Advances in therapy for monogenic diseases; Chapter 9: Identifying therapeutic targets in complex, multifactorial diseases; Chapter 10: Approaches to cancer treatment; Chapter 11: Gene based molecular therapies; Chapter 12; Stem cells and pluripotent stem cells; Epilogue (Envoi); References

Moyra Smith, MD, PhD, MFA, has been conductiong research in human genetics since 1965. For 19 years she served as Clinical Geneticist and Director of the Newborn Screening Program at the University of California, Irvine, where she now serves as Professor Emeritus. Her latest research includes studies of nuclear and mitochondiral genomics in autism.