Scientists from the Global Biobank Meta-Analysis Initiative (GBMI) , founded in 2019, have published initial results in the Oct. 12, 2022 issue of Cell Genomics. In a series of papers, the investigators showed that the data collected by multiple biobanks could be harmonized and jointly analyzed, despite initial differences in recruitment strategies, sample collection, and definitions of diseases. Joint analysis identified new risk loci for more than a dozen common diseases, while another paper showed that such joint analysis could also be used to identify such loci for the rare disease idiopathic pulmonary fibrosis (IPF).
Idorsia Pharmaceuticals Ltd. has described cystic fibrosis transmembrane conductance regulator (CFTR) modulators reported to be useful for the treatment of cystic fibrosis.
Researchers have gained new insights into both genetic and nongenetic factors affecting life span, and how they differ between males and females. Several genes were correlated with longevity, according to a study by the École Polytechnique Fédérale de Lausanne (EPFL). However, some did not affect life span until males reached a certain age. Early access to nutrients during growth also affected longevity, as they saw in their study of more than 3,000 mice and verified with human data. “This study is one of the biggest studies on mass longevity. We were looking for genetic determinants of longevity but there are non-genetic determinants affecting longevity,” the first author Maroun Bou Sleiman, researcher at EPFL, told Bioworld.
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.
Wave Life Sciences Ltd. has highlighted progress with WVE-006, its preclinical Aimer (A-to-I RNA base editing) oligonucleotide candidate for the treatment of alpha-1 antitrypsin deficiency (AATD).
Pretzel Therapeutics Inc. has launched with a $72.5 million series A financing to pioneer novel therapies to modulate mitochondrial function to treat rare genetic diseases and common diseases of aging.
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