From cells to organs to bodies
In the last few years we have increased our understanding of the way the expression of the genes regulates the development and up-keeping of life. It is a complex web of interactions and as data and knowledge piles up the reliance on computers and software becomes ever more essential. Supercomputers and AI are being used to understand, and simulate, the folding of proteins providing researchers with tools to create certain specific types of interactions, thus intervening within the network of metabolic life, addressing specific genetic diseases.
What has started as a focus on single cells metabolism is now evolving into the broader set of interactions among cells within organs and interactions among organs within a body, with a growing level of complexity –metabolome.
An emerging technology SNP – Single Nucleotide Polymorphism profiling allows researchers to change a single base (A-C-G-T) in codons (the gene’s elementary instruction set). A growing data base of variations is available. As of January 2021 it contained over 900 million variations found in the human genome (supported by the US National Centre of Biotechnology Information – watch the clip). The goal of this growing ensemble of information is to discover the effect of single/multiple variations and using CRISPR restore the ones that are creating genetic malfunctions. As per the previous discussion on CRISPR this is a slippery slope since there is no clearcut boundary defining what should be considered as a malfunction and what is just a variation. I guess no-one would claim that blue eyes are a “malfunction”, yet they derive from a change that most likely occurred some 6,000- 10,000 years ago, a mutation in the OCA2 that switched off the capability to create brown eyes.
It is, and it will become easier and easier, to introduce the mutation at will so that future parents may steer their offsprings towards blue eyes…
According to the FTI’s report SNP is not foreseen as a technology for cosmetic manipulation, rather as a technology that could decrease the risk of heart disease or diabetes. However, this is a Pandora box, once you open it, it might become impossible to reseal it.
Research is progressing in moving from the cell to the organ, cluster of cells with a structure that serve a specific function. In the past we have seen the use of stem cells to develop liver, kidney, heart tissue with the same characteristics found in the respective human organs. These organoids are used by pharma to study the impact of a drug on the tissue as a whole. This is really crucial because a drug affecting a cell is also affecting its metabolism and new molecules may be released as a side effect, that, in turns can affect nearby cells with effects on the fuction of that organ.
More recently stem cells have been used to create cererbral organoids, creating cerebral tissue. This is also being used to study brain functions and some manifestations like autisms. The recent pandemic has stimulated research of effects of Covid-19 on lung and brain: organoids are being used to study them.