Human genetics: One gene, twenty years

The effects of learning about one’s own genetic susceptibility to alcoholism: a randomized experiment

“…3 Even single-gene disorders, once thought to allow easy risk assessment, have proven to be less tractable than anticipated. 4 Despite such disappointments, genetic research has captured public attention. Relevant findings have been featured by the media with notable zeal, proclaiming breakthrough evidence that links specific genes, markers, or chromosomal abnormalities with a variety of human diseases and disorders (e.g., schizophrenia), 5 tendencies (e.g., criminality), 6 and behaviors (e.g., novelty seeking).…”

Nasospheroids permit measurements of CFTR-dependent fluid transport

“…CF is a highly complex autosomal recessive disease with over 2,000 mutations and genetic variations, of which F508del is the most common (9). Since the discovery of CFTR, this disease has served as a model for the study of lung and epithelial biology and provided insights into mechanisms of a variety of diseases (10). Despite intensive studies, a cure has remained elusive, and until recently, therapies directly targeted to the underlying defect in the CFTR protein were unavailable.…”

Personalized Prognosis and Diagnosis of Type 2 Diabetes – Vision or Fiction?

“…Subsequently, typical mendelian inheritance, i.e. monogenic inheritance, has been delineated for a number of human diseases from family studies [5,6] . There has been rapid progress in defining the etiological genes for monogenic diabetes, which reflects the relative simplicity of gene discovery in single-gene disorders.…”