WashU Ciliopathy Research Group

@wu-ciliopathygroup.bsky.social

A multidisciplinary team of investigators at Washington University in St Louis that perform fundamental, translational, and clinical research on human ciliopathies.

Our preprint about Togaram1 mouse knockout brain phenotypes is on bioRxiv! This is a model of Joubert Syndrome ciliopathy caused by loss of Togaram1 (aka Crescerin1 aka FAM179B). Primary #cilia defects in neural stem cells. Neurogenesis, mitotis, apoptosis, morphogenesis phenotypes! #cellbio

mouse embryo with small brain and small eye
bioRxiv Developmental Biology@biorxiv-devbio.bsky.social · 4mo ago

Microtubule binding protein Togaram1 is required for proper development of mammalian forebrain and neural primary cilia https://www.biorxiv.org/content/10.64898/2026.04.13.717734v1

The House voted yesterday on the conferenced appropriations bill (H.R. 7148), passing it by a vote of 341 in favor and 88 against. This 954-page bill includes funding for NIH, CDC, and other federal science agencies. The NIH’s overall budget increased by 0.6% compared to FY25.

Listen to me folks. We all agree that this SCIENCV thing sucks. Extra work for no reason. So let's all agree not to nitpick about things on the Biosketch when it's our turn to review grants. Be a good reviewer and let's not screw ourselves. Yes, I'm talking to YOU!

Mark your calendar for the best #cilia conference out there! 👇 Our very own Susan @dutcherlab.bsky.social is presenting one of the keynotes!! 🙌

EuroCilia2027@eurocilia.bsky.social · 7mo ago

𝗠𝗲𝗲𝘁 𝗼𝘂𝗿 𝗸𝗲𝘆𝗻𝗼𝘁𝗲 𝘀𝗽𝗲𝗮𝗸𝗲𝗿𝘀 𝗳𝗼𝗿 #𝗖𝗶𝗹𝗶𝗮𝟮𝟬𝟮𝟳! We are grateful for their participation and look forward to welcoming the cilia community on 8-12, March 2027. Wishing you all a happy and inspiring 2026! 🎉 #Cilia #Milan

Despite the mess, we are grateful to be funded, have exciting science happening, and have an opening for a postdoc! If you are interested in sensory biology and esp in cilia, thermosensation, or interoception, and would like to join an interactive & supportive group - please email. Please RT 🙏

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New research has unravelled the mystery of how microscopic cilia choreograph their “Mexican wave”, enabling marine creatures to swim. Cilia are tiny, hair-like protrusions found in many organisms. Yet despite decades of research, the mechanisms of cilia coordination remained disputed.

Our collaboration with @mbonhivers.bsky.social is now out in @plosbiology.org! 🎉Using U-ExM, we mapped the formation of the flagellar pocket collar in T. brucei. Huge thanks to everyone involved — one step closer to #PhDone! #ExM #oneringtorulethemall #Bilbo1 #trypanosoma #protistsonsky

PLOS Biology@plosbiology.org · 10mo ago

The flagellar pocket collar (FPC) is a cytoskeletal structure essential for nutrient uptake & immune evasion in #Trypanosome. @mbonhivers.bsky.social &co use U-ExM to provide novel insights into FPC biogenesis, and reveal 2 unknown cytoskeletal structures @plosbiology.org 🧪 plos.io/4n3bWi6

A Trypanosoma brucei cell visualized by confocal microscopy after ultrastructure expansion. The cell was immunolabelled for the BILBO1 protein (yellow) and stained with fluorescent NHS-ester (grey). The flagellar pocket is highlighted in pink. Credit: Marie Zelená

I am excited to share the new PCD diagnostic guidelines. A great collaboration with PCD experts from all over the world. publications.ersnet.org/content/erj/...

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is caused by pathogenetic variants in >55 genes. PCD is associated with early-onset chronic wet cough and rhinosinusitis, laterality defects, middle ear disease, and reduced fertility. The clinical presentation is heterogeneous, and diagnosis often relies on multiple tests. The American Thoracic Society (ATS) and European Respiratory Society (ERS) have previously developed separate guidelines for diagnosis. Here, ERS and ATS members systematically reviewed the literature on diagnostic tools used in practice and developed unified evidence-based guidelines for PCD diagnosis using GRADE (Grading of Recommendations, Assessment, Development and Evaluations) methodology, and a transparent process of decision-making using Evidence-to-Decision (EtD) frameworks. The Task Force panel formulated three PICO (Patients, Intervention, Comparison, Outcomes) questions and three narrative questions. The accuracies of high-speed video microscopy (HSVM), immunofluorescence (IF), and nasal nitric oxide (nNO) were compared to a reference test of transmission electron microscopy (TEM) and/or genetics. The panel gives strong recommendation for use of HSVM, IF, and nNO as adjunct tests to TEM and/or genetics for PCD diagnosis. However, no adjunct test is suitable as a standalone test to diagnose PCD and no single adjunct or reference test is suitable to exclude PCD. Pursuing a genetic diagnosis is encouraged due to the implication on management. The panel emphasizes that tests should meet a minimum standard and proposes evaluation of patients at a referral centre experienced in diagnosis. The pretest probability based on symptoms should be considered when interpreting results.

publications.ersnet.org