UCB’s Post

🚨 New research 🚨 Recent advances in genomic testing are unlocking personalised treatments for difficult-to-treat epilepsies. Researchers at FutureNeuro & Children’s Health Ireland (CHI) identified patients with genetic mutations in the DEPDC5 and NPRL3 genes, linked to the mTOR pathway. Using everolimus, a repurposed drug, 3 patients saw a significant reduction in seizures—offering new hope for those with epilepsy triggered by these mutations. This is the first evidence of everolimus benefiting epilepsy caused by DEPDC5 mutations, but more research is needed. Read more: https://lnkd.in/dje-mzcC #EpilepsyResearch #GenomicTesting #PrecisionMedicine #FutureNeuro Research Ireland Epilepsy Ireland

#Parkinson's disease: connecting #mitochondria to #inflammasomes:- •#parkinsonsdisease (PD)-associated #neurotoxins and #mutations induce #mitochondrial #fission in vitro. •#Inducible mitochondrial fission #promotes #myeloid #cell #expression of #proinflammatory #mediators such as the #inflammasome #substrate #pro-IL-1β. •Emerging evidence highlights the #microglial #NLRP3 #inflammasome as an important driver of #PD #pathology. •#Pharmacological #inhibition of either #mitochondrial #fission or #NLRP3 function has provided #neuroprotective benefit in several rodent models of PD. •#Activated #microglia foster a #neurotoxic, #inflammatory environment in the #mammalian #central #nervous #system (CNS) that drives the #pathology of #neurodegenerative diseases including #Parkinson's disease (PD). •Moreover, #mitochondrial fission promotes #microglial inflammatory responses in vitro. •Given that the #NLRP3 #inflammasome and #mitochondria are central regulators of both #inflammation and PD, we explore potential functions for the #NLRP3 #inflammasome and #mitochondrial dynamics in #PD. •Specifically, we propose that #inducible #microglial #mitochondrial #fission can #promote #NLRP3-dependent #neuroinflammation in #hereditary and #idiopathic PD. •Further in-depth exploration of this topic can prompt valuable discoveries of the underlying #molecular mechanisms of PD #neuroinflammation, identify novel candidate #anti-inflammatory #therapeutics for PD, and ideally provide better outcomes for PD patients. #parkinsonsdisease #neurodegenerativediseases #neuroinflammation #inflammation #NLRP3

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

Spatially and temporally probing distinctive glycerophospholipid alterations in Alzheimer’s disease mouse brain via high-resolution ion mobility-enabled sn-position resolved lipidomics Dysregulated glycerophospholipid metabolism in the brain is associated with neurodegenerative diseases. Here, the authors present a 4D lipidomics strategy that profiles glycerophospholipids at the sn-position-resolved level, revealing potentially altered remodeling pathways. https://lnkd.in/gbQhhm8v

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

The identification of a new treatment target for genetic epilepsy is a promising development that could potentially improve outcomes for individuals living with this condition. Learn more about this groundbreaking research and its implications for patient care. #EpilepsyAwareness #HealthcareResearch

Publication alert 📢 Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function #GABRB2 variants ‼️ Based on our extensive molecular and clinical data, we have developed a diagnostic flowchart that utilises clear clinical biomarkers to predict the pathogenicity of newly identified GABRB2 variants. This tool will be useful in improving diagnosis and achieving #PrecisionMedicine for future patients with GABRB2 variants 💜 Excellent work by Nazanin Azarinejad, Philip Ahring, Vivian Liao Han Chow Chua Sebastian Ortiz De la Rosa Katrine M Johannesen Alessandra Rossi Stéphane Auvin, MD, PhD, FAES Sarah Weckhuysen & many more 👏 #Epilepsy 💜 #Genetics 🧬 #GABAA Justin LeBlanc Monica Joanna Elnekaveh GABAA Receptor Alliance Cure GABA A Variants Agustina Fernandez Giambruno Jillian Provost Miranda Cox Filadelfia Epilepsihospital og sociale tilbud ERN EpiCARE - Rare and Complex Epilepsies Lundbeckfonden / Lundbeck Foundation

Honored to share our recent publication on epilepsy research, where I led the metabolomics analysis, focusing on SCFAs. This research, conducted during my tenure at Texas A&M University, aims to illuminate the role of gut microbiota in epilepsy's pathogenesis and treatment. I believe this series of studies will pave the way for groundbreaking advancements in epilepsy management. #EpilepsyResearch #GutMicrobiota #Metabolomics #TexasAM

Diagnosed a child with a #GABRB2 variant? Check out our recent work on the gene including a diagnostic flowchart to predict functional effect! Great work by Nazanin Azarinejad Rikke Steensbjerre Møller and collaborators 💪🏻 #GABAAR #precisiondiagnosis #epilepsygenetic

reMYND NV announces the publication in the prestigious journal Science of research detailing the identification of first-in-class small-molecule septin modulators with neuroprotective efficacy. 2 key takeaways: 👉 reMYND’s septin modulator program demonstrated neuroprotective qualities in Alzheimer’s disease models  👉 the findings provide support for deregulated calcium signalling as a key-driver of neurodegeneration