ISSN 1662-4009 (online)

ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...

ey0019.15-10 | Assorted Conditions | ESPEYB19

15.10. Metabolomic profiling reveals extensive adrenal suppression due to inhaled corticosteroid therapy in asthma

P Kachroo , ID Stewart , RS Kelly , M Stav , K Mendez , A Dahlin , DI Soeteman , SH Chu , M Huang , M Cote , HM Knilhtila , K Lee-Sarwar , M McGeachie , A Wang , AC Wu , Y Virkud , P Zhang , NJ Wareham , EW Karlson , CE Wheelock , C Clish , ST Weiss , C Langenberg , JA Lasky-Su

Nat Med. 2022;28(4):814-22. doi: 10.1038/s41591-022-01714-5.PubMed ID: 35314841Brief summary: This study performed large-scale metabolomic profiling across 14 000 adults from 4 cohorts and identified 17 steroid metabolites whose levels were reduced in individuals with prevalent asthma. The largest reductions were associated with inhaled corticosteroid (ICS) treatment, and these were valida...