Excellent conference today at #SingaporeFishMeeting2023! And congratulations to Amirah for her poster prize!

A great lab Christmas lunch! 🎄

Deficiency in NLRP1-related inflammasome genes rescued DPP9 lethality in mice and zebrafish models. This included IL-1R, but not IL-18, suggesting the role of IL-1 instead of IL-18 signalling.

Great to see our former Research Fellow and now independent PI Franklin Zhong's feature on being an LGBTQ+ scientist in @CellCellPress. A timely piece, with the recent turn of events in Singapore!🌈 doi.org/10.1016/j.cell.2022.…

Great lab party outdoors last Friday - our first since the lockdowns. Great to see everyone's faces! Thanks for hosting, Bruno @reversade!

In a global collaborative effort, we identified 14 children across 10 unrelated families presenting with severe liver disease. Biallelic recessive loss-of-function mutations spanning the entire length of FOCAD were found in this patient cohort.

Had a great time sharing our work at #ESHG2022. And congrats to our recently-defended PhD student for winning a prize for his talk! Well done Ricardo!

Finally - a clinical relevance of this evo-devo discovery in humans! We characterise also for the first time the human CIROP gene, and find recessive mutations associated with heterotaxy (HTX) associated with congenital heart defects. (5/6)

In a phylogenetic screen, we identified a group of genes lost and/or mutated in species lacking motile cilia at LR Organizers which occurred twice in vertebrate evolution. These 5 genes were: MMP21, DAND5, PKD1L1, CIROP & C1ORF127. (2/6)

Our team helped identify the genetic basis of Jamuar Syndrome. Great work from @Celia_PhD! See news report in the link. Singapore medical team identifies world's first known case of Jamuar Syndrome #RareDisease #neuroscience youtu.be/b6I6OynN6SU via @YouTube @ChannelNewsAsia