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14.15. Whole-genome risk prediction of common diseases in human preimplantation embryos

Kumar Akash , Im Kate , Banjevic Milena , Ng Pauline C , Tunstall Tate , Garcia Geronimo , Galhardo Luisa , Sun Jiayi , Schaedel Oren N , Levy Brynn , Hongo Donna , Kijacic Dusan , Kiehl Michelle , Tran Nam D , Klatsky Peter C , Rabinowitz Matthew

Nat Med. 2022 Mar;28(3):513516. 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...

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ey0020.13-12 | Section | ESPEYB20

13.12. Embryo model completes gastrulation to neurulation and organogenesis

G Amadei , CE Handford , C Qiu , J De Jonghe , H Greenfeld , M Tran , BK Martin , DY Chen , A Aguilera-Castrejon , JH Hanna , MB Elowitz , F Hollfelder , J Shendure , DM Glover , M Zernicka-Goetz

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...

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ey0019.5-1 | Novel treatments for rare skeletal disorders | ESPEYB19

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

IW Song , SC Nagamani , D Nguyen , I Grafe , VR Sutton , FH Gannon , E Munivez , MM Jiang , A Tran , M Wallace , P Esposito , S Musaad , E Strudthoff , S McGuire , M Thornton , V Shenava , S Rosenfeld , S Huang , R Shypailo , E Orwoll , B Lee

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...

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ey0021.14-15 | Bone | ESPEYB21

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

Marom Ronit , Zhang Bo , Washington Megan E. , Song I-Wen , Burrage Lindsay C. , Rossi Vittoria C. , Berrier Ava S. , Lindsey Anika , Lesinski Jacob , Nonet Michael L. , Chen Jian , Baldridge Dustin , Silverman Gary A. , Sutton V. Reid , Rosenfeld Jill A. , Tran Alyssa A. , Hicks M. John , Murdock David R. , Dai Hongzheng , Weis MaryAnn , Jhangiani Shalini N. , Muzny Donna M. , Gibbs Richard A. , Caswell Richard , Pottinger Carrie , Cilliers Deirdre , Stals Karen , Undiagnosed Diseases Network , Eyre David , Krakow Deborah , Schedl Tim , Pak Stephen C. , Lee Brendan H.

Brief Summary:Heterozygous, de novo variants in KIF5B are identified in 4 individuals with osteogenesis imperfecta. Studies of these KIF5B variants in C. elegans and cell models reveal the disease-causing mechanism. KIF5B seems important for intracellular trafficking and mTOR signaling to maintain skeletal homeostasis.Several years after the description of the last new osteogenesis imperfecta (OI)-related gene, the authors repo...

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ESPE Yearbook of Paediatric Endocrinology

14.15. Whole-genome risk prediction of common diseases in human preimplantation embryos

13.12. Embryo model completes gastrulation to neurulation and organogenesis

5.1. Targeting TGF-β for treatment of osteogenesis imperfecta

14.15. Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

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