Today I was deeply touched. Riley, chose to forgo her birthday gifts and instead ran a fundraiser to support #PCD research to help her brothers, Mavrick and Conard, and thousands more like them. I turly appreciate their generous donation to the @horaniLab for PCD research.
HoraniLab
@horanilab.bsky.social
Physician Scientist, interested in motile cilia, airway biology, and everything science.
I am proud of Ahmed Elgamal, a clinical postdoc in our lab for receiving the American Thoracic Society Abstract Scholarship Award, sponsored by the PCD Foundation. Congrats Ahmed ❤️
Join us tomorrow at session: A9 PRIMARY CILIARY DYSKINESIA IN A GENOMIC THERAPEUTIC ERA, #ATS2026 Orlando to discuss the greatest and latest in Primary ciliary dyskinesia updates.
Hard at work deciphering cilia! I am really proud of Nicholas Hadas for being accepted to the PhD program in Bioinformatics at the Francis Crick Institute in the UK.
This is a quick read summarizing what many of us have been seeing the past several years.. www.science.org/doi/10.1126/...
China turns the tables in biotech
For at least a century, major scientific research initiatives have reliably occurred in the United States, usually in response to geopolitical competition. This helped establish the country’s status a...
science.org
Merry Christmas to all my colleagues. I am thrilled to spend the holiday with a very very dear friend of mine, Dr Kareem Azab, from UT Southwestern. Drinking coffee as only a scientists might understand 😊
I was invited to give talks to 4 separate meetings the past 2 months. However, I am particularly excited to be invited by my former Chief, Tom Ferkol, to present at U of North Carolina. Together with my research mentor, now collaborator, Steven Brody, he is a main reason I work in cilia and PCD.
I am excited to share our latest preprint describing comparative transciptomic analysis between primary ciliary dyskinesia and cystic fibrosis. The more we understand the pathways driving disease the better equipped we are to find a cure. www.biorxiv.org/content/10.1...
biorxiv.org
I am excited to share our preprint on the use of machine learning to identify abnormal cilia function. I am proud of Nicholas Hadas, a talented PhD candidate, for his hard work in compiling the code and preparing this manuscript. www.biorxiv.org/content/10.1...
Machine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia
Rational. Primary ciliary dyskinesia (PCD) is a genetic condition that results in dysmotile cilia and abnormal mucociliary clearance. Despite advances in understanding the pathogenesis of PCD, diagnos...
biorxiv.org
I would like to share a Guideline-in-Focus episode that summarizes the recently published ERS/ATS PCD diagnosis guidelines. These guidelines are an important step in standardizing our approach to #PCD diagnosis across the world. channel.ersnet.org/channel-38-g...
Guidelines in Focus - ERS Respiratory Channel
Guidelines in Focus is a video interview series. Each new episode accompanies the release of an ERS or collaborative clinical guideline, statement or technical standard.
channel.ersnet.org
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
It is bitter sweet to say goodbye to my patients. Last week was tough for the WASHU PCD and Rare lung team, as we saw 4 patients graduate to the adult side. I had the privilege to care for some for almost 15 years. I am glad to share their journey and be part of their lives.
Congratulations to the winner of the best poster awards and the best flash talks awards at the #OTM2025. Shout out to all the excellent posters on #primaryciliarydyskinesia #PCD.
PCD Foundation On The Move 2025 kicks off in Minneapolis. President Michele Manion welcomes an audience of 200! Exciting times ahead for #PrimaryCiliaryDyskinesia- registries, clinical trials and more! #OTM2025
Incredibly powerful patient panel to counter narrative that PCD is mild- importance of advocacy for care for their own health in a system where PCD is under appreciated. Burden of airway clearance & toll of school, family & work. Trade-offs choice of nebs, commitments & health trade-offs. #OTM2025
Time to celebrate.. the WASHU PCD Time is excited to see it's rank expand. We wish the expecting moms all the best, and we can't wait to meet the little ones.
Amazing accomplishment for Susan Dutcher. A well deserved and overdue recognition #NAS.
The whole group got together for a summer BBQ, and to celebrate Susan's @dutcherlab.bsky.social election to the NAS 🙌 Great food, better company! 🍻
I am proud of Nicholas Hadas, a talented bioinformatician @horanilab.bsky.social @wu-ciliopathygroup.bsky.social (and a future PhD candidate) for wining first place in predictive analytics with his group, at the The CAIDF Hackathon in Chicago.
👏👏🙌 source.washu.edu/2025/05/dutc...
Dutcher elected to National Academy of Sciences
Susan K. Dutcher, a professor of genetics and of cell biology and physiology at Washington University School of Medicine in St. Louis, was elected to the National Academy of Sciences in recognition of...
source.washu.edu
I am excited to welcome Shams Neupane, PHD to the Horani lab. I look forward to see what she can accomplish during her postdoc with us.
Looking forward to joining the ERN Lung meeting and discuss science and advanced in PCD with my European colleagues 😊
Genetic analysis explains rare disease severity, points to possible treatment 👇 #ciliopathies #PCD @dutcherlab.bsky.social @brodylab.bsky.social @horanilab.bsky.social @mahjoublab.bsky.social @washu.bsky.social source.washu.edu/2025/03/gene...
Genetic analysis explains rare disease severity, points to possible treatment
Researchers at Washington University School of Medicine in St. Louis have uncovered why some patients with a rare genetic disorder called primary ciliary dyskinesia have worse lung problems than other...
source.washu.edu
World wide reach! WashU and our own Susan Dutcher were featured on the cover of Le Monte (Paris) during Stand Up for Science day.
So privileged to work with and alongside a group of thoughtful and amazing scientists at WASHU medicine as part of the @wu-ciliopathygroup.bsky.social with our fearless leaders @dutcherlab.bsky.social and @brodylab.bsky.social and motile cilia group @horanilab.bsky.social and @mahjoublab.bsky.social
Excited to share our recent work unraveling the effects of CCDC39/CCDC40 PCD variants on cilia. The result of years of work and collaborations of several members of the @wu-ciliopathygroup.bsky.social research group, lead by @dutcherlab.bsky.social and @brodylab. www.science.org/doi/10.1126/...
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia
CCDC39 and CCDC40 variants interrupt the motile cilia assembly program, disrupt cilia architecture, and alter motility-independent cell functions.
science.org
Hello #Bluesky! We'd like to introduce ourselves... We are the WashU Ciliopathy Research Group - a multidisciplinary team of investigators at Washington University in St Louis that perform fundamental, translational, and clinical research on #ciliopathies. Follow us for updates from the group! 👇
ACCEPTED! Great way to start a Monday. Congrats to my amazing postdoc Tao Cheng!!! Updated version of this coming soon: www.biorxiv.org/content/10.1...
Aberrant centrosome biogenesis disrupts nephron progenitor cell renewal and fate resulting in fibroc...
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
biorxiv.org