After constructive reviews and the addition of RNAseq data that nicely complemented our genome topology findings, we finally had an accepted paper!
It took 5 years, but it was well worth the wait! (21/25)
Together with the original description of X-LAG published in @NEJM back in late 2014, I have to say this is my proudest scientific accomplishment so far! (22/25)
But without the involvement and commitment of all the people that contributed to this piece of work, this would have not been possible. Therefore, a HUGE THANKS goes to all my local and international collaborators and friends. (23/25)
A special mention to my mentor @ConstantineStr7, to @HomeofFIPA, which, again, have been crucial partners in this discovery, and to @mamartl, without whom I won’t be here to write about this study 🙏 (24/25)
Next steps? 1. the identification of new candidate pituitary enhancers and further in vitro and in vivo validation experiments 2. screening for new TADopathies causing neuroendocrine diseases (25/25)
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If you are curious to find out how a holiday read was the 1st in a series of events ending up with the discovery of the first TADopathy in Endocrinology, one which explains the world's tallest giants, read this 🧵 (1/25) tinyurl.com/ydb84laj
In between: 2 relocations, 3 kids born, a pandemic and a tragic loss...Let’s reconstruct the genesis of this long work!
It all started back in Jan 2017 during the Xmas holidays, when I first read an article published in the May 2015 issue of Cell tinyurl.com/y7l9rcl5👇(2/25)
It reported a new concept: the disruption of local chromatin domains called TADs and the resulting rewiring of gene-enhancers interaction is the pathomechanism behind some malformation syndromes. (3/25)