Advances in Biomedicine that Interest Us All

Author : greensameblue

Publish Date : 2021-01-05 17:13:19

Advances in Biomedicine that Interest Us All

The biomedical sciences have progressed at a dizzying speed in recent decades. This makes it difficult even for specialists to keep up with new developments. For the general public, this can create a sense of confusion, as it is not uncommon for the ordinary citizen to be immersed in an informational maelstrom of increasingly surprising (and almost always unfulfilled) scientific promises. However, I believe that our society needs “ordinary people” to be properly informed about scientific progress in all areas of experimental science.

This is why I have been offering my own view of new advances in biomedicine on this blog. In the following paragraphs I therefore offer some particularly relevant examples of what biomedical research has brought about in these first years of the 21st century.

Genomes for all

After an extraordinary organisational, research, technological and logistical effort that lasted twelve years, in 2001 the Human Genome Project gave us the sequence of the three billion letters that make up our genome, the code of instructions that allows a human being to be built. Having just celebrated ten years of this milestone, we must admit that few patients have directly benefited from this information in the form of effective treatments. Regardless of any exaggerations that may have been made at the time, the analysis of what has happened during these ten years can be very illustrative of the gap between public understanding of science and what is actually on the minds of researchers.

One of the first challenges that biomedical science had to face after reading the human genome was to identify the variants that make each individual of our species unique, with a biological predisposition to illness that is unique and different from that of any other person. Efforts to achieve this goal have been largely unsuccessful because the genetic variants identified so far, associated with common diseases such as diabetes or cardiovascular disease, are relatively common variants in human populations. This makes the probability of suffering a disease, when one is a carrier of the “risk” variant, low; therefore, its predictive usefulness in the medical field is very limited.

This situation is changing radically thanks to the technological developments that genome reading has undergone in the last five years. Various platforms developed by biotechnology companies are now capable of reading a bacterial genome in hours, and a human genome in days. Scientists are hopeful that this new flood of data will, this time, significantly improve medical practice. And this is because the mass reading of individual genomes, both of healthy people and of patients with various ailments, will make it possible to find the rare variants, the less frequent ones, those that are in patients but not in healthy subjects. Each of these variants will give its carrier a moderate or high risk of developing a specific disease, and this will transform the genomic medicine of the future into an eminently predictive science.

Unfortunately, this bodes well for a scenario that is not without its problems, since we will be able to identify people at high risk of suffering from common diseases (neurodegenerative or cardiovascular, for example) but will not have the tools to carry out effective therapeutic interventions. This discrepancy will have obvious ethical implications that could lead to the return of more or less buried eugenic practices. The impact on the lives of individuals, families and societies will be great, and the consequences difficult to predict. Because if reading my genome alone results in a fairly reliable list of all the diseases I will suffer from, the situation generated will be discouraging: I will be able to initiate strategies for the early detection of these diseases, I will be able to change to healthier lifestyles, I will be able to prepare myself and my family for a possible fatal outcome. But little else.

The end of this “dark age” of genomic medicine must come with genetic correction techniques, so that we can correct all the defects we carry in our genomes. For this to be possible, technology will have to be developed to enable specific genetic changes to be made in both adult and unborn humans. This technology is still in its infancy, so there is an urgent need to invest in research that can make it possible as soon as possible, so that the gap between predictive and corrective capacity is minimal, or non-existent.

Stem cells

Another unique example of how biomedical research at the beginning of this century will change the lives of people born in the coming decades is that of regenerative medicine. In recent years, scientists have demonstrated that it is possible to reprogramme adult cells and return them to a pluripotent state like the stem cells in the embryo. But research in this field has gone even further, achieving something that was unthinkable years ago: directly converting cells of one type (skin, for example) into different cells (muscle or brain) by means of relatively simple genetic manoeuvres.

“Transdifferentiation”, as this phenomenon is called, is conceptually simple. If I suffer from a degenerative disease due to the death of some of my brain cells, for example, a possible solution is to obtain some cells from my skin or blood, convert them into brain cells and implant them in the damaged area in order to cure the disease; as they are my own cells, there are no problems of immune rejection. In recent years, several research groups have succeeded in directly converting skin cells from mice and humans into blood-forming cells, heart muscle cells or brain cells, to name a few examples. The therapeutic implications of this new technology are enormous.

There is no need to stress that developing these technologies will take time, and will require the coordinated progress of various fields of science. For example, the design of new microscopic devices that transport drugs to where they are needed, providing sustained release that can even be modulated from the outside, will be essential to develop genetic and cellular engineering strategies that correct genetic damage in situ or trigger the regeneration of damaged organs. Biomedical engineering will thus be the tool that will make it possible to bring advances in genetics and cell biology to thousands of people.

8 Genes needed to make Stem Cells in oocytes

Eight genes are enough to produce proteins that control genes capable of converting mouse stem cells directly into oocyte-like cells that mature and can even be fertilised as eggs.

This finding, published in “Nature”, in addition to providing new knowledge about the mechanisms of egg development, may be an important step forward for reproductive medicine, especially in mitochondrial replacement therapies, in which parts of the eggs are replaced to prevent mothers from transmitting mitochondria-related diseases to their children. Stored in the body until they mature into eggs ready for fertilisation, the oocytes represent the first step in the creation of new human life.

Oocytes are unique because of their ability to produce the more than two hundred highly differentiated cell types needed to create an individual person, and a key to that ability is the complex mixture of substances within the cytoplasm, the fluid that fills the cells.

The authors of the research write that oocytes and their cytoplasm are so extraordinary that replacing the DNA-containing nucleus of an oocyte with that of any other cell in the body, a process called somatic cell nuclear transfer, can produce new life, as demonstrated by the famous Dolly Sheep.

Therefore, understanding the processes of the oocyte and its development is important both for advancing reproductive medicine and for better understanding how life spreads, but knowledge of the many genes that orchestrate oocyte development is far from advanced.

By analysing the development of mouse oocytes, researchers led by Katsuhiko Hayashi of Kyushu University (Japan) have identified eight genes that are not only necessary for oocyte growth, but can also convert mouse stem cells into oocyte-like cells. In collaboration with researchers from the RIKEN Institute, Hayashi’s group discovered that both mouse embryonic stem cells and induced pluripotent stem cells (iPS), which can be created from adult cells, are constantly converted into oocyte-like cells when forced to produce the set of eight transcription factors.

Moreover, when cultured in the presence of other cells which are usually found

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