This book focuses on predictive, preventative and personalized medicine
(PPPM) and how it is related to the healthcare of rare diseases. Readers
will discover how advanced rare diseases healthcare provides an
excellent "proof-of-principles" for the personalisation of healthcare
systems on a global scale. Chapters look at national plans for rare
disease, at biobanking, gene identification, rare cancers, virus gene
therapy, induced pluripotency for cell therapy amongst other topics.
There is a chapter dedicated to personalized medicine for hereditary
deafness and another exploring the complexity of genotype-phenotype
correlations. Specific diseases such as Fabry's, Gauchers and
mitochondrial cytopathies are highlighted and we look at enzyme
replacement therapy in lysosomal storage diseases. This work is part of
a series, produced with the involvement of the European Association for
Predictive, Preventive and Personalised Medicine. The series focusses on
the concept of an integrative medical approach by PPPM. This volume is
dedicated to all aspects related to the prediction, prevention and
personalised treatments of rare diseases, and in doing so it explores
developments relevant to all medical branches. The authors cover ethical
considerations, the creation of a robust platform for professional
communication, synergies with patient organisations, "doctor-patient"
collaboration and a new philosophy of integrative medicine by PPPM. This
volume serves as a reference source for scientific and medical centres
in the field and can be used both at medical curricula and graduate
level in the life sciences. Those who place a special emphasis on
healthcare promotion and innovations intended to combat rare diseases,
save the affected lives and enhance life quality will all find this book
of great value.
