Kategoria BISAC: Medical >> Genetics

The future of gene editing in humans will involve the use of CRISPR. How we think about the combination of the scientific, ethical, and moral aspects of this technology is paramount to the success or failure of CRISPR in humans. Unfortunately, the current scientific discussion around CRISPR in humans has left ethics trailing behind due to the rapid pace of innovation. New modes of ethics and stakeholder participation are needed to keep pace with rapid scientific advances and provide the necessary policy and ethical frameworks necessary to help CRISPR flourish as an important health care...

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.

Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.

The book presents a clinical and biochemical approach to the...

The aim of this volume is to summarize novel findings on the function, pathophysiology, and regulation of voltage-gated Ca2+ channels and on novel concepts of their pharmacological modulation. Impressive insights into the role of channel function and regulation have come from Ca2+ channelopathies affecting the pore-forming as well as accessory subunits and channel-interacting proteins. Moreover, the long-sought molecular basis for key regulatory pathways have been discovered as well as exciting concepts of their subtype-selective pharmacological modulation.