Big congratulations to Alex Li on passing his Qualifying Exam! 🎉 An impressive presentation spanning population genetics, Wolfram spectrum phenotypes, and future functional genomics approaches. Excited to see where this work goes next!
@washumedicine.bsky.social #WolframSyndrome

Exciting progress in Wolfram syndrome! Dr. Fumihiko Urano outlines new therapies — from AMX0114 drug trials to gene-editing strategies aimed at restoring β-cell function and neuroprotection. Collaboration with patient groups is key.
#WolframSyndrome #RareDisease @washumedicine.bsky.social

Please contribute with more #, I am only tagging a few that are close to me.
#RareDiseases
#SpecialNeeds
#SpecialEducation
#Galactosemia
#DownSyndrome
#Autism
#ADHD
#PDA
#CerebralPalsy
#WheelChair
#Accessibility
#WolframSyndrome

Liraglutide treatment reverses unconventional cellular defects in induced pluripotent stem cell-derived β cells harboring a partially functional WFS1 variant Wolfram Syndrome 1 (WS1) is a rare genetic disorder caused by WFS1 variants that disrupt Wolframin, an endoplasmic reticulum-associated protein essential f

We’ve been exploring the potential of GLP-1 receptor agonists for treating Wolfram Syndrome, a rare form of diabetes.
#WolframSyndrome #GLP1 diabetesjournals.org/diabetes/art...

Fascinating new study on mechanisms for #WolframSyndrome
#BetaCell #Endocrinology

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome - Diabetologia Aims/hypothesis Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolfra...

Exciting research uncovers new #disease mechanisms for #WolframSyndrome: #cellstress and #inflammation impair the #NonsenseMediatedDecay, resulting in the accumulation of aberrant WFS1 mRNA isoforms and #BetaCell #apoptosis tinyurl.com/3ytj5kf4 🔓 #Endocrinology

We can no longer trust that other countries mirroring NIH will lead to best practice if this man gets the chair.
I am so tired of fighting for "my" diseases and disorders, two of which are just about to get their first medications out.🤯
#Galactosemia
#Govorestat
#WolframSyndrome
#ALS
#AMX0035