Elizabeth Engle

[Lisenka Vissers @LisenkaVissers]

A great collaborative project to gain insight into the cause of #HCFP.
Congrats to @Engle_lab @brynwebbmd @alexdigiox for leading this work.
And thank you for allowing us to contribute; Proud to be part of this! @b_elked @BokhovenHans @Solve_RD
@radboudumc @GeneticNijmegen

[National Human Genome Research Institute @genome_gov]

HCFP1 is a rare condition in which people have no or limited facial movements. People with this condition may have issues eating and communicating.

[National Human Genome Research Institute @genome_gov]

Overall, the researchers hope that understanding the genomic variants associated with HCFP1 can help guide diagnosis and treatment of the condition.

[National Human Genome Research Institute @genome_gov]

Researchers at @BostonChildrens, in collaboration with @genome_gov and @DOMSinaiNYC, have found variants in the human genome associated with hereditary congenital facial paresis type 1 (HCFP1).

[Nature Genetics @NatureGenet]

🚀 PUBLISHED @NatureGenet
📰 Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
🧑‍🤝‍🧑 Elizabeth C. Engle, Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb and team
👇🏼
https://t.co/NAITc1LhyY

[Elizabeth Engle @ElizabethcEngle]

@ChrisAWalsh1 Thanks Chris!

[Elizabeth Engle @ElizabethcEngle]

@theNAMedicine @BostonChildrens @harvardmed Thank you all!

[Elizabeth Engle @ElizabethcEngle]

Thank you!

[National Academy of Medicine @theNAMedicine]

Congratulations to Elizabeth Engle of @BostonChildrens & @HarvardMed on being elected to the NAM! Welcome!