Esther_Yoon retweeted
Deletions in a gene (πππππππ) that encodes a long noncoding RNA cause severe developmental delay and an increase in expression of a neighboring gene, πππ2. Read the Brief Report: nej.md/48gS1WY
ALT Brief Report: Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene Facial features and findings on MRI of the brain in a child with CHASERR haploinsufficiency.
Esther_Yoon retweeted
Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 𧬠(πππππππ) as the cause of a newly defined human neurodevelopmental disorder π§ . π§΅1/10 nejm.org/doi/full/10.1056/NEβ¦
For the past 4 mos Iβve been training for the Chicago Marathon, which has been a dream/challenge of mine since Iβve started my training @NUMSTP. Iβll be running for Ronald McDonald House Chicago, a group that provides housing/meals for families when their child is hospitalized.
As an MD/PhD student studying rare pediatric diseases, Iβve been deeply impacted by the stories of the challenges families face while seeking care for their children and want to do more to help relieve their financial/emotional burden.
Currently Iβm ~$400 short from reaching my fundraising goal of $1750. If youβd consider donating, itβd mean a lot to me and go a long way in helping families be together during hard times π
support.rmhc.org/site/TR/Teaβ¦
Thank you to the organizers for an amazing inaugural @curechd2 conference. Such a special time getting to know the families and learning about all the cool ongoing scientific work! Iβm back in lab more motivated than ever to help find a cure for CHD2!
Many people had already left when these pictures were taken, but wow. Incredibly blown away by the number of people who came, the deep connections we all made and the sheer sense of pride we all felt at the end. #curechd2
Grateful to have worked on this paper with awesome colleagues at @NUMSTP @NUFeinbergMed . Go give it a read!!
Happy to share our recently-published literature review authored by myself, NUMSTP colleagues, and @ArdehaliHossein on the impact URM and marginalized identity status has on MD-PhD student experiences and academic outcomes.
rdcu.be/dd6vz
Esther_Yoon retweeted
Absolutely amazing. 14 (!!!!) #WomenInSTEM @ICHG2023 #ICHG2023 changing the world. Love these inspiring, intelligent, fun friends/colleagues/collaborators in #epilepsy #genetics #RareDisease @CarvillLab
Esther_Yoon retweeted
Sun, sea&science in Cape Town #ICHG2023 posters today by the team @Aish__Ram ME006 non-coding #FOXG1 SVs @jen_z_cheng ME003 #stemcell #CUX2 models & EstherYoon EP010 lncRNA regulation of #CHD2. Come learn more about their cool science in #epilepsy #genetics β at Cape Town, South Africa
