Hutchinson-Gilford Progeria (acute premature aging) is caused by a de novo point mutation in the lamin A gene. Recently, this mutation has been accurately corrected by base editing in patient cell lines and in a mouse ...

The prediction of a person’s aspect from analysis of an anonymous DNA sample has made significant progress in the last decade. Pigmentation (eyes, hair and, more recently, skin colour) can now be determined with good ...

Risk assessment for a cancer type with moderate heritability can be accurately performed using a relatively small number of SNPs detected by GWAS analyses to calculate a polygenic risk score (PRS) that has definite clinical ...

A systematic search for non-conventional open reading frames in human DNA reveals a large number of small ORFs encoding peptides generally smaller than 100 amino-acids. These ORFs are transcribed and translated into small ...

A new company is offering extensive genetic analysis of embryos during an in vitro fertilisation procedure, allowing the derivation of polygenic scores for several diseases and embryo choice based on these results. Polygenic ...

Recent work on bacterial insertion sequences reveals that some of them use an RNA sequence (called Bridge RNA or Seek RNA) to define both donor and target DNA specificity. This opens the way to easy insertion of kilobase ...

Multi-Cancer Early Detection is a highly popular topic, bringing the hope of being able to detect very early, non-symptomatic cancers and allowing more successful therapy. A major company in this space is GRAIL, which has ...

Many human DNA sequences have been obtained from ancient remains dating back from several millennia. However, these have low coverage and may contain many errors; this has limited their usefulness for many analyses, in ...

In vivo inactivation of a deleterious gene has been achieved in a small trial, with excellent clinical results. Interestingly, the delivery and editing system is the same as in previous work on a different disease, and the ...