Organoids are 3D models created from human stem cells and resemble fetal tissues. In an article published in Nature Medicine on March 4, 2024, researchers from University College London provided details on the possibility of generating organoids from epithelial cells collected from amniotic fluid without terminating the pregnancy.
An Italian group of researchers has used zinc finger editing to silence the PCSK9 gene and improve blood cholesterol levels in mice by applying a single dose of their modifier. The epigenetic-based method could be an alternative to genome editing.
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.
Modifying a patient’s DNA is no longer just for science fiction novels. The CRISPR gene editing technique developed by Jennifer Doudna and Emmanuelle Charpentier only took 10 years to reach the market as Casgevy (exagamglogene autotemcel/exa-cel, Vertex Pharmaceuticals Inc.), treating congenital pathologies such as β-thalassemia and severe sickle cell disease. But science does not stop.
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 largest genetic analysis of abdominal aortic aneurysm (AAA) carried out to date has identified almost 100 new risk variants linked to the disorder. The study also highlighted a possible therapeutic target for this pathology that, at the moment, has no treatment. AAA affects 4% of people over 65 years of age in the U.S. and causes 41,000 deaths per year. The incidence is three to four times higher in men than in women.
Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases. The new Alphamissense tool from the technology company Google Deepmind, available online, will allow scientists to refine diagnoses and design more tailored treatment strategies for patients suffering from pathologies associated with these variants.
At the 2023 Annual Congress of the European Academy of Neurology, Mary Reilly described the relationship between bench and bedside as “a continuous circle of translation,” with each cycle beginning with patients and their needs.
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.
The human genome, the sequence that represents the DNA of our species, was built with a single individual as a model. This all-in-one standard didn’t include the gene variations that make us different or explain why some people develop certain diseases. Four simultaneous studies from the Human Pangenome Reference Consortium have published a sequence based on 47 individuals, beginning to capture the genetic diversity that defines humans.