World Duchenne Organization’s Post

Excited to share my first preprint article! We've uncovered a novel hepatic cycle involving the generation and reuptake of very low-density lipoprotein (VLDL). This study sheds light on the sexual dimorphism in lipoprotein kinetics and potentially on why young women have a lower risk of cardiovascular disease compared to men. My contribution focused on developing a Bayesian-inference based, pseudo-time computational method. This technique orders single-cell transcriptional profiles along the central to portal axis in the liver.  Felix Naef Cédric Gobet Tomaž Martini https://lnkd.in/ec6EezJc

Uterine Fibroids: Common, But Always Harmless?   Uterine fibroids affect many women, with some experiencing significant discomfort. Accurately diagnosing these types of benign tumors represents an ongoing problem. Our research on the molecular signatures of uterine fibroids aims to develop a non-invasive diagnostic tool to allow earlier diagnoses, personalized treatment approaches, and ultimately, improved women's health.   Learn more and empower yourself with knowledge: https://lnkd.in/dxj5FsCC

Finally out! Our work published in JNEUROCHEM showing that the neuropeptide PACAP, via the PAC1 receptor, protects the brain from myelin and axonal loss in the cuprizone MS model. Thanks to all the collaborators and the The Rebecca L. Cooper Medical Research Foundation for the generous funding support! Targeting the PAC1 receptor mitigates degradation of myelin and synaptic markers and diminishes locomotor deficits … https://lnkd.in/eSgGeRBw

👇Check out our latest article! So proud of this team effort 🫶!

#ManuscriptMonday: Using a sensitive dynamic functional connectivity approach, a new study by the Bio-Imaging Lab (Sam De Waegenaere et al). identified nuanced changes in the dynamics and organization of intrinsic brain 🧠 function at early stages of Alzheimers’ Disease (AD). Read more 👉 https://lnkd.in/eQYJiaw7 💡 Resting-state (RS) co-activation patterns (CAPs) are transient brain states that represent dynamic functional connectivity between brain regions and allow studying transitions between every pair of such states. By investigating early changes in RS-CAPs in the TgF344-AD rat model of AD, the team shows that this transient functional connectivity between regions belonging to the default mode and the lateral cortical network as well as the basal forebrain in specific CAPs was diminished in the TgF344-AD rats, even before the plaque formation starts. More interestingly, while for most CAP-pairs in the wild-type animals switching to-and-fro was equally likely, TgF344-AD rats showed a preference in the switching direction at the age of early plaque formation.

🧑🏻🔬 Celebrating a decade of collaboration with Alerie Guzman De la Fuente, since she first taught me to label microglia in a lysolecithin lesion in 2014! 🔬 I recently applied my #machinelearning lesion analysis pipelines to her latest project on T regulatory cells in the #ageing retina 👀 Our findings highlight a novel role for #Tregs: they #protect the retina in old age by limiting inflammation and photoreceptor loss Paper: https://lnkd.in/eDmEJswc

One of the striking features that we're learning about dense breasts and what is creating that density is the microenvironment, which means the environment in the supporting tissue surrounding the glands. This includes fibroblasts and collagen. It seems that rather than estrogen being the dominant factor, it is inflammation that is creating the increased density of breast tissue.  https://lnkd.in/emZ5ZnMh

Sharing our Lab's first preprint led by Mengqi Z. and in collaboration with Dengke K. Ma, Raymond Swanson! Congrats, Mengqi! I became interested in PATJ after it turned up in human genetic studies as associated with circadian rhythms and obesity. PATJ is also one of the few loci associated with stroke outcome in human studies so far, but how it alters stroke outcome is unknown. To shed some light on this we created a KO cell line, studied its orthologue in C. elegans, and examined PATJ expression post-stroke in mice. We found new ties and phenotypes for PATJ in metabolic and vasculogenic pathways, and intriguingly endothelial-specific induction in the days and weeks following stroke (tMCAO) in mice. Studies of stroke recovery have found that improving vascular repair can help improve neurorecovery. Moving forward, we hope to leverage PATJ-related pathways to enhance neurorecovery after stroke! Read our preprint to learn more! https://lnkd.in/gdBb9rsY

I am happy to share our latest paper, 'The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study'. This work is in collaboration with the inimitable Ranajit Das and his team. Here we showed significant and strong causal association between a genetic predisposition to COVID-19 and an increased risk of developing chronic fatigue, pneumonia, airway infections, headache, and heart failure - Long COVID symptoms. I am glad and grateful that I get to explore the many facets of human genetics, that range from family/Mendelian disease to population/multifactorial traits and disorders, that come together to give us a better understanding of organismal development and human diseases, all thanks to wonderful collaborations.