ESPE Yearbook of Paediatric Endocrinology

Nat Med. 2022 Mar;28(3):513–516. doi: 10.1038/s41591-022-01735-0. Epub 2022 Mar 21.Brief Summary: Currently, preimplantation genetic testing (PGT) is used to avoid specific rare Mendelian disorders before in-vitro fertilization (IVF). However, evidence is limited on the potential use of a polygenic risk score (PRS) that combines thousands of genetic variants as a predictor fo...

In Brief: The authors created mouse embryos in the laboratory from a combination of multiple stem cell lines. These embryos were developed ex vivo up to the equivalent of day 8.5 post-fertilization. Embryos developed within an extraembryonic yolk sac and were similar to whole natural embryos, with defined forebrain and midbrain regions, a beating heart-like structure, a neural tube and somites, a tail bud containing neuromesodermal progenitors, a gut tube, and also pr...

J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.Abstract: https://pubmed-ncbi-nlm-nih-gov.proxy.kib.ki.se/35113812/In brief: Currently, there is no disease-specific therapy for osteogenesis imperfecta (OI) where most children, of all forms of OI, with significant fracture history, are managed by bisphosphonates...