Rare genetic disorders that cause features of aging to appear much earlier than expected can offer an unusual window into the biology of human aging. Yet information about these conditions is scattered across publications and databases, and the same genes or syndromes are sometimes described using different terminology. A new study brings much of this information together in a manually curated genetic and clinical resource.
A research paper published in Volume 18 of Aging titled “A manually curated gene–phenotype catalogue for progeroid syndromes and premature aging,” developed an integrated catalogue linking genes, premature aging syndromes, syndrome subtypes, and major clinical features.
Full blog post - https://aging-us.org/2026/10/new-gene-phenotype-catalogue-maps-the-genetic-landscape-of-premature-aging/
DOI - https://doi.org/10.18632/aging.206366
Corresponding author - Tanja Kunej - tanja.kunej@bf.uni-lj.si
Abstract video - https://www.youtube.com/watch?v=Ov6Saz34ZpE
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Keywords - aging, premature aging, progeroid syndromes, DNA repair, LMNA gene
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