Genetic research and bioinformatics offer great opportunities. We shouldn’t leave the field to others. A guest post.

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KA science fiction series can do without ideas for the medicine of the future: Patients are simply scanned, with the help of artificial intelligence (AI) the doctors make a diagnosis in the shortest possible time and develop tailor-made drugs.

To be too good to be true? In fact, particularly effective, personalized therapies are the great promise of cell and gene therapies – especially for diseases that we can only cure poorly or not at all today.

The central starting point: the human genome, the blueprint for our life. Every cell nucleus contains our DNA, which consists of around 3.2 billion base pairs – an enormous amount of data! How do the specific properties of an organism arise from this? The information of certain DNA segments, the genes, is first copied as an RNA transcript. The RNA is transported out of the cell nucleus and serves as a template for the synthesis of proteins. These proteins are the actual building blocks and active substances of the cell, their quantity and composition determine the processes of life.

Progress through Artificial Intelligence

We have long known that many diseases originate from genetic malfunctions. And it is a captivating thought to simply correct defective genes – like spelling mistakes in a highly complex word processing program.

However, the development of such therapies is taking longer than originally expected. The exact sequence of the genetic building blocks in human DNA has been deciphered since 2003, but the interaction of the various genes is extremely complex. It’s a bit like learning a completely new language: we already know the letters and individual vocabulary. It will be decades before we understand all the linguistic subtleties. Last but not least, it is the advances in AI and computing power that are moving us forward on this path – after all, it is about the evaluation of gigantic amounts of data.

Thanks in part to bioinformatics, there have been important successes in the development of new therapies in recent years. This is especially true for rare diseases that are caused by the mutation of a single gene. So far, only the symptoms can often be treated in such cases. Thanks to gene therapy, we can actually address the causes of hereditary diseases. A single treatment can be effective for a long time, ideally for a lifetime.

Against hemophilia and cancer

Take haemophilia, for example: In a gene therapy study, patients in whom natural blood clotting was impaired managed to get by without additional blood clotting factors for years. Another example is a therapy approved in the United States for an inherited form of retinal degeneration that can prevent vision loss.

Gene and cell therapies also offer fascinating possibilities for the treatment of cancer. Cancer cells bypass the body’s immune system by mimicking the signals from healthy cells. In the laboratory, T cells of the immune system can be “reprogrammed” in such a way that, as so-called CAR T cells, they can recognize and fight cancer cells efficiently.

The development of gene and cell therapies was boosted by the discovery of the CRISPR / Cas9 technology in 2012, commonly known as “gene scissors”. It is based on natural mechanisms that bacteria use to defend themselves against invading viruses. Thanks to this technology, it is possible to target a very specific region in the extremely long gene strand and to cut the DNA precisely at a specific point. This makes research on genes much faster and cheaper. In addition, the CRISPR technique enables defective genes to be repaired relatively precisely. The first clinical studies are already available, for example for the treatment of the blood disease beta-thalassemia.