Healthcare Data Reveals Disease Mutations
Combining healthcare and research data with a new statistical method allows the identification of new mutations underlying genetic disorders
Genes and disease
The human body is a very complex system. Unfortunately, this also means that a lot can go wrong.
When some part(s) of that system can no longer perform the way they should, we call it a disease or injury.
(Admittedly, this is a hand-wavy definition of disease, which is a lot harder to rigorously define than you might think. There are, of course, also injuries which are generally defined as ‘physical trauma caused by an external force’.)
Disease can be externally induced. Pollution, poison, parasites, infections… All of these can cause our bodily system to scream ‘error’.
But our own body can make itself scream ‘error’ as well.
Our genes are long sequences of nucleotides (coming in four ‘letters’: A, C, G, and T). Every time one of our cells divides, it needs to copy its DNA to pass it along to its daughter cells. But with each division, something can go wrong during the copying process. That is a mutation.
