Genes & Development’s Post

CHEK2 as a potential susceptibility gene for dermatofibrosarcoma protuberans (DFSP), according to a study using data from International Sarcoma Kindred Study and other large population scale cohorts https://bit.ly/4hZdYhY

Reporter Gene Plasmid HanBio offers a variety of engineered cell lines and pre-constructed reporter vectors for analyzing specific biological pathways. For example, luciferase reporter vectors for analyzing cytokine regulation, activation of signaling pathway and cytotoxicity including heat shock, hypoxia and DNA damage. https://lnkd.in/ggJd3THm

In part two of this blog series, Alyssa Valentine, MS, CGC, shares a patient case with Amanda Jacquart, MS, LCGC, where the incorporation of TCLR resulted in a major impact on MMR gene variant classification. #VUS #Lynchsyndrome #colorectalcancer #genetictesting https://hubs.ly/Q02JmNTr0

Today marks the day the first paper on the discovery of the CHD7 gene. The day aims to raise awareness of CHARGE syndrome to help improve diagnosis and access to best practice interventions. Take time to learn more #CHARGESYNDROMEawarenessday https://lnkd.in/ekBWexpN

Today marks the day the first paper on the discovery of the CHD7 gene. The day aims to raise awareness of CHARGE syndrome to help improve diagnosis and access to best practice interventions. Take time to learn more #CHARGESYNDROMEawarenessday https://lnkd.in/ekBWexpN

Polycythemia vera is a clonal myeloproliferative neoplasm that causes erythrocytosis and is typically associated with a JAK2 gene variant. This narrative review investigates the diagnosis, symptoms, and management of polycythemia vera. https://ja.ma/3CwfcRz

Sepul Bio announced on Friday that the first clinical participant has been dosed in LUNA clinical study, a Phase 2b clinical study for ultevursen, in individuals with retinitis pigmentosa (RP) or non-syndromic RP due to variants in exon 13 of the Usher Syndrome Type 2a gene. Further information can be found on www.sepulbio.com #Ushersyndrome #Sepulbio #Retinitispigmentosa #RNAtherapy #IRD

Biomolecular Horizons 2024 features a special Gene Editing Day with Keynote Speaker Peter Fineran on bacteriophages, their bacterial hosts and host immune systems. Join us at #bmh2024 in Melbourne, 22-26 September 2024. Abstracts due by 12th March 2024. ...the future is biomolecular.

This is a support and discussion group for people diagnosed with Cardiomyopathy with the MYBPC3 gene variation. The goal is to share experiences and research and to ask questions related to the MYBPC3 variation. https://lnkd.in/grNePz7j #cardiomyopathy #dilatedcardiomyopathy #geneticcardiomypathy #geneticscardiomyopathyawareness

⭐ Are you looking for the latest info on environmental monitoring? ⭐ Download our Pharma Horizons report now to discover the latest on developing your own contamination control strategy, specific considerations for a gene therapy manufacturer and the latest global regulations for bacterial endotoxin testing. Head this way 👉 https://bit.ly/3x7r6OQ This report has been sponsored by Lonza. #EnvironmentalMonitoring #GeneTherapy #EndotoxinTesting