Researcher Bjarne Udd, MD, PhD, provides a deeper understanding and details the latest developments in disorders related to the Titin (TTN) gene. Learn more in this Q&A from our #QuestMagazine: https://lnkd.in/eHxkCXPb
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Did you know that titinopathies encompass over 10 different muscle disease types? The TTN gene, responsible for these conditions, is 50 times larger than most genes and is associated with a variety of #neuromuscular and #cardiac conditions. Gain a deeper understanding of titinopathies with insights from Bjarne Udd, MD, PhD, researcher and professor at the University of Helsinki in Finland. Dr. Udd details the latest developments in disorders related to the Titin (TTN) gene, offering valuable perspectives on current research and advancements. Explore the progress in this field below.
Researcher Bjarne Udd, MD, PhD, provides a deeper understanding and details the latest developments in disorders related to the Titin (TTN) gene. Learn more in this Q&A from our #QuestMagazine: https://lnkd.in/eHxkCXPb
Understanding Titinopathies - Quest | Muscular Dystrophy Association
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Our new paper's out! This is a narrative review on molecular mechanisms connecting GBA1 gene mutations, considered the primary genetic risk factor of PD, to increased Parkinson Disease risk. https://lnkd.in/d2kMPqKA
The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson’s Disease: a New Genetic State of the Art - Molecular Neurobiology
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New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2. #RareDisease #Genetics In this report, they describe the impairment of PAK2 kinase activity for two other de novo PAK2 missense variants associated with Knobloch syndrome phenotype. These results provide additional evidence that Knobloch syndrome is genetically heterogeneous and that PAK2 is a second causative gene. https://lnkd.in/dNzcUEaT
New kinase‐deficient PAK2 variants associated with Knobloch syndrome type 2
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Despite a shared genetic cause in C9orf72 mutation, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) exhibit distinctive clinical manifestations. The C9orf72 mutation had diverse effects on cellular machinery in ALS compared to FTD, specifically disease-specific alterations in gene expression and epigenetic profiles across diverse cell types, indicating divergent molecular-level pathogenic pathways. This cellular divergence emphasizes a critical juncture where C9orf72 influences fate, providing a promising target for tailored therapeutic strategies for each disease. The great study by Junhao Li et al. on Nature Communications "Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation" #amyotrophiclateralsclerosis #frontotemporaldementia #brain #snRNA #BioTuring Read the publication here: https://lnkd.in/g6RwEmBk Explore the dataset on Talk2Data now: https://lnkd.in/gA78fdwQ
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💡Explore the Q&A session from Striatech's Journal Club with Livia Carvalho (University of Melbourne) on the topic of "Developing a Novel Gene Therapy for Kcnv2 Retinopathy" 📖 Read here: https://lnkd.in/eWtYesxw #eyeandvision #Ophthalmology #VisionResearch #animalmodel #micemodel #GeneTherapy #Retinopathy #OptoDrum
Journal Club: Developing a Novel Gene Therapy for Kcnv2 Retinopathy
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Age and the APOE4 gene variants are key and significant risk factors for Alzheimer's disease (AD), influencing the emergence of a unique microglial cell population known as terminally inflammatory microglia (TIM), which co-express stress and inflammatory markers and show impaired cellular function. Present in both AD model mice and human patients, TIM are associated with amyloid-beta plaques and exhibits a reduced ability to clear these plaques. The scientist's comprehensive study integrated single-cell and spatial transcriptomics, revealing that TIM frequency increases with age and APOE4 presence, indicating an exhausted-like state in AD's neuroimmune landscape. Interestingly, aducanumab, an anti-amyloid treatment, modulates TIM characteristics in an APOE-dependent manner, highlighting TIM's potential as a therapeutic target in AD, especially among APOE4 carriers and older individuals. Visit us at https://treventis.com/ #Alzheimersdisease #APOE4 #microglia #amyloidbeta #inflammation https://lnkd.in/etafmK_f
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Understanding risk is a key factor in deciding if #Leqembi is appropriate. Check out Marwan Sabbagh explaination of the association of #ApoE4 status and how it’s a predictor of Amyloid related imaging abnormalities (ARIA). People with 4/4 have a 33% chance of developing ARIA and could disqualify a patient for the drug. However, he does caution patients from rushing to get a genetic test to determine ApoE4. A suggestion worth considering: Get a #RestoreU care plan from uMETHOD Health, Inc. before a generic test because it looks at risk factors and can even help with risk stratification for Leqembi before jumping to a generic test!
🧠 Studies show that in some people, the inherited genetic variant #ApoE4 could not only multiply your risk of developing #Alzheimersdisease, but also your risk of experiencing brain bleeds from taking monoclonal antibody treatments for #Alzheimers, like #Leqembi. 🩸 According to neurologist Marwan Sabbagh at Barrow Neurological Institute, people considering taking these #drugs are being asked to take a #geneticscreening to see if they carry the gene variant ApoE4. Here's more: https://lnkd.in/giFgP72W
Leading Neurologist: This Gene Raises Your Risk of Alzheimer's—and Drug Side Effects
https://www.beingpatient.com
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“There are many missions of the Muscular Dystrophy Association: Both excellence in patient care and advancing multidisciplinary care, as well as assisting in discovering new therapies that improve the lives of those living with neuromuscular diseases,” shared Barry Byrne, MD, PhD, Chief Medical Advisor at #MDA. The latest advancements in line with these objectives make the 2024 Clinical & Scientific Conference invaluable for both seasoned clinicians and newcomers to the #neuromuscular disease field. Learn more in this CGTLive feature and register at MDAconference.org #MDAconference NeurologyLive
ICYMI: Byrne highlighted what he is most excited about for the 2024 meeting in particular, emphasizing that attendees will be working on establishing a Gene Therapy Readiness Network. #genetherapy #MDAconference #MDA #MDA2024 Muscular Dystrophy Association More: https://lnkd.in/eYNbFPaG
Barry J Byrne, MD, PhD, on MDA Care Centers and the Upcoming Clinical & Scientific Conference
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With the Specialist combines medical expertise with technological innovation. Trust in a solution created by doctors, for doctors, and revolutionize your approach to neurological care.
The link between Gaucher disease and Parkinson's disease (PD) is shedding light on neurodegeneration. Gaucher disease, a rare lysosomal storage disorder caused by mutations in the GBA1 gene, leads to a deficiency in the enzyme glucocerebrosidase. Interestingly, individuals with Gaucher disease or GBA1 mutations have a higher risk of developing PD, with 3-25% of PD patients carrying a GBA1 variant. However, only a small percentage of these carriers develop parkinsonism, indicating low penetrance. This association has highlighted the importance of lysosomal pathways in PD pathogenesis. Ongoing research aims to understand the mechanisms behind GBA1-PD. Therapeutic strategies developed for Gaucher disease, such as brain-penetrant enzyme replacement, gene therapy, and small molecule chaperones, could inform new treatments for PD. Identifying early biomarkers for GBA1 variant carriers is crucial for developing preventative therapies. Overall, Gaucher disease offers valuable insights into PD, potentially guiding new approaches to treatment and early intervention. #neurology #parkinsons #gaucher With the Specialist combines artificial intelligence with a board certified neurologist to enhance neurological care in the primary care setting, bringing the neurology consult to you. #withthespecialist #aiinhealthcare #innovation https://lnkd.in/grCbB5jG https://lnkd.in/gExrwg2P
Gaucher disease provides a unique window into Parkinson disease pathogenesis - Nature Reviews Neurology
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All month, we'll be highlighting rare diseases ahead of Rare Disease Day on February 29. Duchenne Muscular Dystrophy, or DMD, has had a big year with the FDA approval of Sarepta Inc's #Elevidys - the first gene therapy for the treatment of pediatric DMD patients. DMD is an ultra-rare, life-threatening condition and advancements in this therapeutic area are fulfilling an unmet need for these patients. While the process is far from finished, the accelerated approval and continued testing to widen the treatment age for patients with limited options is definitely one to watch. https://ow.ly/gnnh50QACgA #DMD #genetherapy #rarediseasehighlight
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