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Companies now provide individuals with their own genotypes and associated risks extrapolated from association studies. The best outcomes would be to convert patients into active investigators and navigators of their own health, to make genetics the foundation of medical education and to expand the scope of genetic counseling as a profession.
Plasma lipoprotein concentrations are associated with risk of coronary artery disease, a leading cause of mortality and morbidity worldwide. Three new genome-wide association studies of thousands of individuals now identify seven genes or loci contributing to lipid concentrations and confirm a number of previously reported associations.
The discovery of new risk variants for systemic lupus erythematosis (SLE), particularly around lymphocyte signaling pathways and integrins involved in clearing complement, provides fresh insights into this common human autoimmune disease. Understanding the role of the variants in disease pathophysiology and translating these findings into new therapies present major and urgent challenges to medical scientists.
Many organisms have an amazing capacity to adapt to conditions of low oxygen, but the cellular mechanisms of this are poorly understood. A new study in mice has unveiled a molecular trigger that initiates a cascade of events to reprogram cellular oxygen requirements.
Rapid changes in mitochondrial DNA allele frequency between generations have been explained by an 'mtDNA bottleneck' in the germ line, and it has recently been proposed that mtDNA aggregates, or nucleoids, drive such a bottleneck. Now, a new study finds a sharp reduction in mtDNA content in the germ line and suggests that such reduction alone may account for the bottleneck effect.