Genetic Causes of ALS/FTD with Prof. Isaacs

In episode seven of our Neuroscience Research series, Filippo Dall'Armellina and Dr. Michael Cearns speak with Dr. Nicoletta Landsberger from the University of Milan. Her research focuses on Rett syndrome: a rare, severe X-linked neurodevelopmental disorder and a leading cause of intellectual disability in females. They discuss how the disease progresses in Mecp2-deficient mice, the therapeutic potential of neural precursor cell transplants, and a promising non-invasive treatment strategy: intranasal delivery of nerve growth factor. Research Highlights from the Episode: - Paper 1: Carli et al. A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2-deficient mouse brain. Neurobiology of Disease, 2023. PMID: 36931532. - Paper 2: Frasca et al. Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway. EMBO, 2024. PMID: 39496971. - Paper 3: Pozzer et al. Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice. Brain, 2025. PMID: 39300821. 🧠 #NeuroscienceResearch X/Twitter: @NPodcases Visit the Neuro Podcases website: neuropodcases.co.uk

In this episode of our Neuroscience Research series, Filippo Dall'Armellina and Dr Michael Cearns speak with Professor Julie Williams (Cardiff University), a leading figure in the genetics of Alzheimer’s disease. Prof. Williams also co-hosts “In Two Minds” with Justine Pickering, so be sure to check it out. Research highlights: - Paper 1: Harold D et al. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nature Genetics. [PMID: 19734902]. - Paper 2: Sims R et al. (2017). Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease. Nature Genetics. [PMID: 28714976].

In this episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Michael Cearns welcome Professor Adrian Isaacs (UCL), who investigates the molecular and cellular mechanisms underlying FTD and ALS. Research Highlights: - Paper 1: Mizielinska S, et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science, 2014. [PMID: 25103406] - Paper 2: Kempthorne L, et al. Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo. Nat Commun., 2025. [PMID: 39779704] - Paper 3: Giblin A, et al. Neuronal polyunsaturated fatty acids are protective in ALS/FTD. Nat Neurosci., 2025. [PMID: 40000803]

In this episode we are joined by Dr Ingrid Hoeritzauer to discuss her approach to the diagnosis and management of functional neurological disorders.

In the fourth episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Dr. Michael Cearns are joined by Prof. Michele Jacob, Professor of Neuroscience at Tufts University. Prof. Jacob’s research focuses on autism spectrum disorders, intellectual disabilities, and the molecular mechanisms underlying neurodevelopmental disorders. Her work spans basic biology, including the Wnt/β-catenin signalling pathway, as well as electrophysiological studies and preclinical mouse models. Together, we discuss groundbreaking evidence for therapeutic interventions targeting conditions such as autism spectrum disorder and the rare CTNNB1 syndrome. Research Highlights from the Episode: - Paper 1: Alexander JM, et al. Excessive β-Catenin in Excitatory Neurons Results in Reduced Social and Increased Repetitive Behaviors and Altered Expression of Multiple Genes Linked to Human Autism. Front Synaptic Neurosci. 2020 Mar 31; PMID: 32296324. - Paper 2: Alexander JM, et al. Inhibition of GSK3α,β Rescues Cognitive Phenotypes in a Preclinical Mouse Model of CTNNB1 Syndrome. EMBO Mol Med. 2024 Sep; PMID: 39103699. 🧠 #NeuroscienceResearch X/Twitter: @NPodcases Visit the Neuro Podcases website: neuropodcases.co.uk

In this episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Dr. Michael Cearns engage in a fascinating conversation with Professor Ben Michael, Director of The Brain Infection & Inflammation Group at the University of Liverpool. Together, they delve into the emerging field of neuro-COVID and Covid-19 associated neurological complications, exploring the ongoing research and the challenges of understanding this novel and complex topic. Research Highlights: - Needham EJ, et al. Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses. Brain. 2022. - Michael BD, et al. Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses. Nat Commun. 2023. - Wook GK, et al. Post-hospitalisation COVID-19 cognitive deficits at one year are global and associated with elevated brain injury markers and grey matter volume reduction. Nat Med. 2024. Thank you for listening! Follow and share on X/Twitter: @NPodcases Check out the Neuro Podcases website: neuropodcases.co.uk #NeuroScienceResearch #Neuroscience #ClinicalNeuroscience #BrainHealth #Neurology #MedicalEducation #MedTwitter #BrainMatters #Brain #Nature

In this inaugural episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Michael Cearns are joined by Professor Tony Marson who leads the Liverpool Epilepsy Research Group and is a honorary consultant neurologist at The Walton Centre NHS Foundation Trust. Together, they explore Professor Marson's career in epilepsy research, answering practical questions in the field. Research Highlights from the Episode: - Paper 1: Terman SW, et al. Variation in seizure risk increases from antiseizure medication withdrawal among patients with well-controlled epilepsy: A pooled analysis. Epilepsia Open. 2024. - Paper 2: Mayer J, et al. Epilepsy and the risk of adverse cardiovascular events: A nationwide cohort study. Eur J Neurol. 2024. 🧠 #NeuroscienceResearch X/twitter @NPodcases Neuro Podcases Website at neuropodcases.co.uk

In this episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Michael Cearns engage in a compelling discussion with Professor Michael Jenkinson, Chair of Surgical Trials at the University of Liverpool. They explore his pioneering work in surgical trials to understand meningiomas, a type of brain tumours. Research Highlights from the Episode: - IMPACT study publication: Islim AI, et al. External validation and recalibration of an incidental meningioma prognostic model - IMPACT. BMJ Open. 2022. - STOP'EM trial. Learn more about it at https://www.fundingawards.nihr.ac.uk/award/NIHR129748. 🧠 #NeuroscienceResearch X/twitter @NPodcases Neuro Podcases Website at neuropodcases.co.uk

In this podcast episode we are joined by Dr. Laura Bricio Moreno, a postdoc research fellow at the Massachusetts General Hospital in Harvard Medical School. The discussion focuses on the pathogenesis of HSV-1 encephalitis as well as some of the pre-clinical research currently being undertaken in this field.

In this episode we are joined by Dr Ethan Meltzer to discuss how his approach to clinical reasoning in Neurology. Further information on his book can be found at the following link https://global.oup.com/academic/product/how-to-think-like-a-neurologist-9780197576663?cc=gb&lang=en&