Leema_Robert

Mainstreaming cardiac genetics: join free sessions run by the @SEgenomics to learn more about genomics, who to test and how to test in inherited cardiac conditions canva.com/design/DAHAcL0… #cardiotwitter #CardioEd @BiccsUk

GSTT Team from 2009 meeting again ⁦⁦@BiccsUk⁩ conference. Older and wiser! ⁦@2tbueser⁩

Need to read this paper - highlighted by ⁦@LuisRLopes77⁩ ⁦@BiccsUk⁩ ⁦@2tbueser⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩

Dan Hammersley talking on imaging and genetic determinants of SCD in DCM. ⁦@BiccsUk⁩ ⁦@eleanorwicks⁩ ⁦@rach_bastiaenen⁩ ⁦@2tbueser⁩

Polygenic risk scores in HCM. Work from James Ware ⁦@BiccsUk⁩ ⁦@drjamesware⁩ ⁦@2tbueser⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩

Ride this wave in ICC - says Perry Elliott in the William McKenna lecture. @BiccsUk @rach_bastiaenen @2tbueser @eleanorwicks

Systemic approach to assessing a patient for aortopathies. ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

How to sessions - conclusions and top tips on measuring QT. ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

Rachel discussing our LVOTO service in the industry symposium ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@MariaDyson8876⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

RDR Uk priorities. We have started with Decipher at GSTT already. Join the cardiovascular genetics consortium in Decipher. Let’s put our data together. ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@drjamesware⁩ ⁦@2tbueser⁩ ⁦@eleanorwicks⁩

PM criteria for cardiomyopathy diagnosis. Good talk by Joe Westaby. @biccs ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

Cell level gene expressions to identify new genes in ICC.⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

AI enhanced ECGs helpful in early diagnosis in TAA and tailoring surveillance of DCM families. ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

Supervillin in HCM. Love the name! IPSC work to show the HCM profiling of heterozygous Supervillin variants ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

Still not sure why they are semi-dominant! Phenotype of heterozygous variants of recessive cardiomyopathy conditions. Showcasing PPA2 and ALKP3. ⁦@BiccsUk⁩ ⁦@rach_bastiaenen⁩ ⁦@2tbueser⁩ ⁦@eleanorwicks⁩

Fab programme ⁦@BiccsUk⁩. When you are shuttling between rooms to catch interesting talks. I am doing that for the RDR UK session and the SCD session. ⁦@rach_bastiaenen⁩ ⁦@eleanorwicks⁩ ⁦@2tbueser⁩

Interesting talks on DCM and HCM. Thanks Dan for organising this. ⁦@drdanhamm⁩ ⁦@AdeMarvao⁩

WGS analysis of ~2,700 Indians (largest to date) cell.com/cell/fulltext/… @CellCellPress - Most variation traced back to a single out-of-Africa event 50,000 years ago, with subsequent gene flow from Neanderthals & Denosivans. - All had a 4th degree relative or closer within the dataset (!) - Most Indians today are enriched for genetic variation from sources similar to: Andamanese hunter-gatherers, ancient Iranian farmers, and Steppe pastoralist groups - Lots of founder events / endogamy increase homozygosity, contributing to enrichment for autosomal recessive disease - Indians have a larger burden of population-specific Neanderthal ancestry vs others, contributing to adaptation & disease (largely related to immunity)

Working hard doing a clinic on Sunday! Seeing aortopathy patients for the AI study - GAIN ⁦@AdeMarvao⁩ @rach_bastiaenen⁩ ⁦@GrahamTADCT⁩