Join us #IAPRD2024 for three excellent lectures on the genetics and diagnosis of Parkinson disease in 2024. https://lnkd.in/gXHpu7t Deciphering the genetic code of Parkinson disease and movement disorders by Vincenzo Bonifati, Refining the clinical diagnosis of Parkinson’s disease by Mark Hallett, and The biological diagnosis of Parkinson disease by Tiago Outeiro #Parkisonism #MovementDisorders #Neurology #Research #ParkinsonsDisease Parkinsonism Related Disorders
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Investigating the Genetic Association of 40 Biochemical Indicators with Parkinson's Disease This study uncovers new genetic insights into Parkinson's disease (PD), revealing that elevated levels of albumin and sex hormone-binding globulin (SHBG) are associated with an increased risk of PD. Interestingly, higher C-reactive protein (CRP) levels were found to correlate with a reduced risk of PD, suggesting a protective role of inflammation in this context. By leveraging a Mendelian randomization approach, the researchers were able to highlight the complex relationship between 40 biochemical indicators and PD. This work is significant as it points to SHBG as a potential new player in PD onset and progression. These findings could pave the way for novel therapeutic strategies targeting these biochemical markers. It’s a step forward in our understanding of the biochemical underpinnings of Parkinson’s disease. https://lnkd.in/gTFymt7u #parkinson #parkinsondisease #neurology #biomarkers
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I’m thrilled to announce that my case report on a "Rare Homozygous CNPY3 variant causing Autosomal Recessive Developmental and Epileptic Encephalopathy 60" has been published! This work represents a significant step forward in understanding the genetic underpinnings of rare neurological disorders. By shedding light on this rare variant, we hope to contribute to improved diagnosis and personalized treatment strategies for patients affected by this condition. #RareDiseases #Genetics #Epilepsy #MedicalResearch #HealthcareInnovation #Neurology
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ALSP was once categorized as two distinct disorders: Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS) and Pigmentary Orthochromatic Leukodystrophy (POLD). It was the discovery of a shared genetic mutation in the CSF1R gene that unified these conditions under the ALSP umbrella, enhancing our understanding and approach to diagnosis and treatment. The journey of understanding ALSP underscores the importance of informed awareness and the sharing of knowledge. Each interaction you have with this information—whether a like, a share, or sharing a personal story—extends our reach and has a profound impact, providing hope and support to those living with rare diseases. 💜 - #RareDisease #Neurology #BrainHealth
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We leave this year’s #jpm feeling energized and optimistic. We shared our transformation to a neurology-focused genomic medicine company, and why we believe our unique combination of epigenetic editing cargo and our potentially transformative capsid for delivery to the central nervous system positions us for potential success. Learn more: https://bit.ly/3TXr0Tj #genomicmedicine #neurology
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Understanding Cerebral Atrophy: Causes, Symptoms, and Treatment Options Cerebral Atrophy refers to the shrinking or wasting away of the brain's cerebral cortex and other structures. This condition can affect different parts of the brain and is associated with a decline in cognitive function and motor skills. Causes of Cerebral Atrophy: 1. Age-related Atrophy 2. Neurodegenerative Diseases 3. Vascular Issues 4. Genetic Predisposition 5. Toxic Exposure Know in detail: https://lnkd.in/dgr3sQVk #CerebralAtrophy #BrainHealth #CognitiveDecline #MotorSkills #Neurology #AgeRelated #NeurodegenerativeDiseases #VascularIssues #Genetics
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🎙️ Dr. Hanns Lochmüller, an expert in neuromuscular disorders, joins us on DNA Today to discuss Congenital Myasthenic Syndromes (CMS). In this insightful episode, Dr. Lochmüller explains the advances in genetic testing that have revolutionized the diagnosis and treatment of CMS, distinguishing it from other neuromuscular diseases like Myasthenia Gravis. 🎧 Listen to the full episode by searching “DNA Today” in your podcast app. https://lnkd.in/dPMJ-Nxf #CMS #MyastheniaGravis #CongenitalMyasthenicSyndromes #Neurology #RareDisease
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Why is #genomics important in #neurology and how is it being applied in a clinical setting? In our video, Professor Huw Morris outlines the increasing role of genomics and some of things neurologists should be aware of. View the full resource here: https://buff.ly/3vfmqWE
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This #RareDiseaseDay2024, Dr. CP. Ravi Kumar, Consultant in Pediatric Neurology at Aster CMI Hospital, Bangalore, discusses the benefits of genetic testing in aiding the diagnosis of numerous rare diseases and urges parents to get genetic testing done for their children if they notice any neurological abnormalities. For further information on Genetic Tests available for Rare Diseases, please visit www.medgenome.com or call 1800 103 3691. #RareDiseaseDay #MedGenome #RareDiseases #GeneticDisorders #GeneticTesting #GeneticDiseases #Neurology #NeurologicalDiseases
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Today, we are excited to announce our novel neurotropic AAV capsid that demonstrated industry-leading blood brain penetration and brain transduction in non-human primates following intravenous administration. Capsid-enabled delivery of zinc finger payloads targeting prion disease and tauopathies also resulted in potent and widespread repression of target genes. Learn more here https://bit.ly/4cf36th #genomicmedicine #neurology
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The exact causes of peripheral nerve tumors is not clear, but some are related to genetic mutations. However, some risk factors include neurofibromatosis type 1 (NF1), schwannomatosis, von Hippel-Lindau disease, and exposure to radiation or certain chemicals. Recognizing these causes informs risk assessment, genetic counseling, and personalized management strategies. To Consult our Micro-Neural Surgeon Call: 7358234506 #plasticsurgeryindia #PeripheralNerveTumors #NerveTumorSurgery #Neurosurgery#MicroneuralSurgery#TumorRemoval #SurgicalTreatment #NerveTumorRecovery #MedicalProcedure #Neurology #TumorExcision #SurgicalRecovery #NerveHealth #SurgicalSuccess #PatientCare #TumorFree #SurgeryRehabilitation
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