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Study Debunks Association Between PsO, PsA with Skin Cancer

From target discovery to clinical drug development with human genetics

The substantial investments in human genetics and genomics made over the past three decades were anticipated to result in many innovative therapies. Here we investigate the extent to which these expectations have been met, excluding cancer treatments. In our search, we identified 40 germline genetic observations that led directly to new targets and subsequently to novel approved therapies for 36 rare and 4 common conditions. The median time between genetic target discovery and drug approval was 25 years. Most of the genetically driven therapies for rare diseases compensate for disease-causing loss-of-function mutations. The therapies approved for common conditions are all inhibitors designed to pharmacologically mimic the natural, disease-protective effects of rare loss-of-function variants. Large biobank-based genetic studies have the power to identify and validate a large number of new drug targets. Genetics can also assist in the clinical development phase of drugs—for example

The Genetics of Hypertension

Hypertension is a major modifiable risk factor for renal, cerebrovascular, and cardiovascular disease. The pathophysiology of hypertension, also known as high blood pressure, is complex, whereby both genetic and environmental factors interact with several physiological pathways and mechanisms to produce an observable phenotype. This article explores the genetics of hypertension.

Serious flaws revealed in longevity genes study

When an article was published in Science last week reporting that DNA samples from exceptionally long-lived individuals differed detectably from those of normal individuals, it got plenty of positive attention from the mainstream media. However, the buzz from experts was rapid and telling: my colleagues in the statistical genetics community weren't excited about the results, but immediately, profoundly skeptical.

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