Current risk genes for some diseases such as multiple sclerosis (MS) may have emerged in the past as protection against infection by different pathogens. A group of researchers led by scientists from the University of Copenhagen has analyzed the ancient DNA of European populations and has revealed how MS, Alzheimer’s disease (AD) and diabetes arose as populations migrated. This evolution would explain the modern genetic diversity and the incidences of these pathologies observed today in the old continent.
Spirits were high at the 2023 annual meeting of the American Society of Hematology (ASH), buoyed by the U.S. FDA approval of the first two gene therapies for sickle cell disease (SCD) the day before the conference kicked off in San Diego. The addition of gene therapy to the therapeutic arsenal for SCD is “phenomenal,” Adetola Kassim, director of the Adult Sickle Cell Disease Program and professor of medicine at the Vanderbilt-Ingram Cancer Center, told BioWorld. Nevertheless, at a Saturday, Dec. 9, session titled, “Improving Outcomes for Individuals with Sickle Cell Disease: Are We Moving the Needle?,” which Kassim chaired, the answer remained “maybe.”
The discovery of DNA was a milestone in the history of science that led to a breakthrough in biomedical research. By associating disease and genetics, genome correction techniques were ultimately developed that are supposed to work in the same way that antibiotics and antivirals block pathogenic microorganisms: by directly attacking the causes of disease.
A base-by-base comparison of the genome sequences of 240 species of mammals has pinpointed sites in the human genome where mutations are likely to cause disease. The sites are all perfectly conserved across the mammalian family tree over 100 million years of evolution, indicating they underlie fundamental biological processes that do not tolerate diversity or change very well.
The Nobel Prize in Physiology or Medicine 2022 was awarded to Svante Pääbo today "for his discoveries concerning the genomes of extinct hominins and human evolution." Pääbo, who is currently the director of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and his colleagues overcame extreme technical challenges to sequence the DNA of ancient hominids – because after tens of thousands of years, there is no such thing as aging well for DNA.
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