Скачать или смотреть Session 6 - WSS Conference 2017 - What is Wiedemann-Steiner Syndrome (WSS)? - part 1 of 2

Learn about WSS and other Mendelian disorders of the epigenetic machinery from Dr. Hans Tómas Björnsson.

Dr. Björnsson provides a brief explanation of DNA, epigenetic machinery, histone machinery, histone modifications, Mendelian disorders, and enzyme disorders to help you understand Wiedemann-Steiner Syndrome (WSS). Then, he shares an example of promising research for Kabuki Syndrome (KS) that could prove beneficial for WSS. Lastly, Dr. Björnsson outlined his thoughts on what aspects of WSS we may be possibly able to target with a medical treatment and answered questions from WSS families.

Summary
(1a) We now have the book of life (the human genome) and are starting to understand how these genes are regulated in cells
(1b) Epigenetic modifications are thought to help establish and maintain cell type specific identity
(2a) The histone machinery consists of writers (highlighters), erasers, readers, and remodelers
(2b) There are many different histone modifications, and certain combinations of marks are seen in open chromatin (H3K4me3, H4ac) and other combinations in closed chromatin (H3K27me3, H3K9me3)
(3a) The Mendelian disorders of epigenetic machinery are genetic disorders with epigenetic consequences
(3b) Common phenotypic features include intellectual disability and abnormalities of growth
(3c) Despite known redundancy of the epigenetic machinery, other components with overlapping function are not able to compensate for the loss of a single allele, indicating tight regulation of the levels of these factors and the marks they affect
(4a) A mouse model of Kabuki Syndrome (KS) demonstrates impaired neurogenesis in the granule cell layer of the dentate gyrus
(4b) Defects in the dentate gyrus can be reversed using drugs that target the epigenetic machinery, suggestion that the intellectual disability seen in KS (and perhaps other disorders of epigenome homeostasis) may be treatable
(4c) Patients with KS have visuospatial problems that can be tested in clinical trials
(4d) Patients with KS and WSS have epigenetic changes that separate them from controls
(4e) It is our hope that further study of these changes will duggest how the disease occurs (pathogenesis) and explore whether manipulation of this marks can rescue aspects of the phenotype

Session footage from the 2017 International WSS Conference held in Orlando, Florida on October 21 & 22.