Translational Genetics eBook

Translational genetics aims to harness discoveries that are made in genetic research towards clinical applications to be able to improve patient health and disease outcomes. Technological advances in genetics and genomics are enabling researchers to develop better prognostic biomarkers for disease, tailored therapeutic interventions and improved prophylactic preventative modalities. The path to being able to translate bench discoveries to applications at the bedside is complex and still in its infancy but is showing promise for novel therapeutics during drug development and tailoring existing therapeutics to the right patient subpopulations.

In this eBook, we explore some of the hottest topics being pursued in translational genetics – from untangling the complexity of genetic variants, to research and therapies for rare diseases and how CRISPR is revolutionizing the medical landscape.

First, we’ll look at the influence and importance of genetic variants in health and disease, particularly for diseases with complex etiology. Understanding how some of these variants can influence the efficiency of long-standing treatments and novel therapeutics under development has the potential to improve patient care substantially.

Next we cover how rare disease research is particularly challenging due to small patient populations per disease, limited research funding and high degree of failure during drug development.

Lastly, a look at how the applications of CRISPR technology have been transforming the potential for gene editing, with promising therapeutics emerging for both inherited and non inherited diseases. As the CRISPR field continues to rapidly evolve, this new era brings great excitement as well as ethical challenges that require careful considerations.

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