Kenneth Hoàng Phạm 🏳️‍🌈

a Twitter L1 | MD/PhD student at Penn | 1/2 of Journey to the Double Doc | Columbia ‘19 | formerly Chalfie and Hobert labs

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

a compelling proposition that the "Xi [is] a genetic suppressor of autosomal mutations" broadly across human diseases

(even comes with a tantalizing cameo of a cohesin subunit!)

[Maya Talukdar @MayaTalukdar]

Excited to share @PageLabXY and my perspective on the role of the so-called “inactive” X chromosome in autism, out today in @NatureGenet! A quick 🧵… (1/n)

[Maya Talukdar @MayaTalukdar]

Excited to share @PageLabXY and my perspective on the role of the so-called “inactive” X chromosome in autism, out today in @NatureGenet! A quick 🧵… (1/n)

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

We hope that our identification of clinically correlated mosaic H3K9me3 BREACH genes will inspire new insights into pathophysiology and therapeutic strategies in FXS! 14/fin

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

I am excited to share our new work from @CreminsLab heterochromatin in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder. We previously described ectopic H3K9me3 domains in FXS, BREACHes, though the clinical significance is unexplored. 1/n

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

For some speculation as to why these mosaic BREACH genes are associated with greater disease severity? Both SLITRK4 and KHDRBS2 contribute to synaptogenesis, so maybe higher levels of these genes contribute the hyperexcitability hypothesized to underly some FXS symptoms. 13/n

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

a win for curiosity!

“We were simply curious about an interesting worm mutant, and everything we found out about it was unexpected. We consider ourselves very lucky”

Lee, Feinbaum, Ambros. A Short History of a Short RNA. Cell 2004

https://t.co/fvCHSrzdNG

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

check out Rohan's FISHnet for sequential Oligopaint data, so lucky to have been a part of Rohan's project

[Rohan Patel @PatelRohanD]

Howdy! I'm thrilled to introduce FISHnet, a computational tool designed to identify chromatin domains within sequential Oligopaints DNA FISH data.

Check it out on BioRxiv https://t.co/6Nn3DApYHr

🧵 ⬇️ ⬇️ ⬇️ (1/8).

[Kenneth Hoàng Phạm 🏳️‍🌈 @KennethHPham]

what did I really expect from outlook

[linda.zhou @lindazh0u]

We are very excited to share our findings on BREACHes using a human model of genome instability in fragile X syndrome with possible implications for other diseases with perturbations linked to genome instability! https://t.co/t68X7KxSUP. (1/18)