2020 Genetics & Research Project Update from Dr. Hans Tomas Bjornsson скачать в хорошем качестве

2020 Genetics & Research Project Update from Dr. Hans Tomas Bjornsson

On Monday, October 26, 2020, Dr. Hans Tomas Bjornsson met with members of the Wiedemann-Steiner Syndrome (WSS) Foundation Board of Directors and Scientific Advisory Board to discuss progress on our current research project as well as to give an update on the state of genetics. Overviews, background infromation, and learnings informing our Research Project (1:58) Overview of epigenetic machinery Explanation of three illustrative writer/eraser disorders Overview of WSS Learnings from Rubinstein-Taybi Syndrome (RTS) and Kabuki Syndrome (KS) ---- A mouse model of KS demonstrates impaired neurogenesis in the granule cell layer of the dentate gyrus. ---- Defects in the dentate gyrus can be reversed using drugs that target the epigenetic machinery, suggesting that the intellectual disability seen in KS (and perhaps other disorders of epigenome homeostasis) may be treatable. Discussion on the biggest genetic breakthroughs of the year (18:32) CRISPR-Cas9 (genetic editing technology) sc-RNA-Seq (single cell RNA sequencing) Cut and run technique (a new method to evaluate chromatin modification) WSS: Kdm5c and Kmt2a double model (revealed rescue of phenotypic abnormalities) Update on our WSS Research Project progress and next steps (27:15) Research question: Can WSS be treated after birth? Currently, six WSS founder mice were born on September 9, 2020 In the coming weeks, these founder mice will be bred with one another to create the WSS mice we need for our research project ---- We will know if the WSS mice are viable at this time (although all sings indicate they will be viable) ---- Ideally, mice will be transported to University of Iceland in January 2021 ---- Then, the mice will be bred to expand the colony over the next ~2 months, and experiments will begin. Question and Answers (34:46)