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Can comparative genomics provide new answers for the treatment of diseases?

In June, the researchers announced that they had re-sequenced the entire human genome—this time they completed some missing information in the original complete sequence in 2003, which was unmatched by early sequencing technologies. But now that we have this information, how can we use it to find the answers we seek to improve human health and human life, in order to solve some of the major disease killers such as heart disease, stroke and Alzheimer’s disease?

Let us take Alzheimer’s disease as an example. It is a popular and progressive human neurodegenerative disease, the cause of which is not yet known and there is no effective treatment. Globally, some experts predict that by 2030, the number of confirmed cases may increase to 82 million.

Fortunately, comparative genomics—using data from mammals and other species to show us the process by which the most important sequences are—can help us better understand the genetic basis of human diseases. When exploring comparative genomes, it is important to understand that humans and mammals share 90% of the DNA. Researchers generally believe that comparing the genomes of more than 6,000 mammals living on our planet will help geneticists identify key highly conserved sequences that are more likely to cause disease. Recent efforts have provided nearly 450 high-quality sequences of these species.Major academic institutions such as Broad InstituteAs well as the National Human Genome Research Project, they have conducted in-depth studies to better understand the secrets of hibernation and millions of years of evolution in order to discover new ways to treat human diseases. This is a big step forward, enabling the medical community to determine the genetic factors that contribute to the risk of Alzheimer’s disease and adding new insights into the neurobiology of this complex disease.

A good way to find new therapies is to find humans who are naturally resistant to diseases. This is how we found PCSK9 inhibitors and other treatments for high cholesterol drugs. Unfortunately, it is difficult, if not impossible, to find people who are resistant to many disease states. We can extend the same discovery process to animals that have evolved disease resistance and find new therapies for diseases for which there are no good treatments today. When you consider all mammals, there is much more natural diversity than when you consider variation within a single species (humans), which makes us more capable of finding new therapies.

For example, despite many attempts over the years, the reasons that put animals into hibernation have not yet been solved. However, by understanding how animals survive such extreme physiological conditions at the organ level, this knowledge can help advance the treatment of human traumatic brain injury, ischemia, and Alzheimer’s disease. Interestingly, during hibernation, animals will experience long-term numbness and suspended animation, receiving only 10% of the normal rate of cerebral blood flow, but they can protect the brain from ischemia and subsequent reperfusion during arousal.

Since ischemia and brain injury share common pathologies, including inflammation, oxidative stress, excitotoxicity, and disturbances in calcium homeostasis, the adaptation of hibernators may also help prevent brain injury.They are also able to remove large amounts of hyperphosphorylation your And increase the number and density of their dendritic connections as part of their natural adaptation to extreme temperature fluctuations. If we can better understand the ways in which hibernators protect brain tissue from damage, these observations will make them very interesting natural models of Alzheimer’s resistance.

We now know that almost all human diseases can be modeled in one or more species. We must remember that humans are animals. By ignoring this key connection, we are limiting scientific progress, including identifying breakthrough treatments for life-threatening diseases, such as Alzheimer’s, heart disease, cancer, etc.

Photo: iLexx, Getty Images

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