Genomenon, Inc’s Post

Genetics plays a crucial role in understanding epileptic encephalopathy, as many forms are linked to specific gene variants that influence brain function and seizure susceptibility. Identifying these genetic causes can lead to earlier diagnoses, personalized treatments, and improved outcomes for patients. Genes associated with these disorders—such as DENND5A, KCNT1, ARV, and DEPDC5—are crucial for understanding the underlying mechanisms and finding new treatment pathways. This Epilepsy awareness month, we are offering free access to curated variant content on a subset of genes known to impact epilepsy from our Mastermind® Genomic Intelligence Platform. The variant insights provided are from the genes ALDH7A1, AP3B2, KCNT1, PLPBP, SCN3A, DEPDC5, SCN8A, ARV1, and DENND5A. Through initiatives like free access to curated variant content from Mastermind, we’re committed to supporting the research community in uncovering new insights and improving patient care. The variant content will be available for all Mastermind users, and anyone can create a free Mastermind account here: https://lnkd.in/g7c_Fzs #EpilepsyAwarenessMonth #EpilepticEncephalopathy #GenomicResearch #PrecisionMedicine #GeneticInsights #MastermindGIP #Genomenon #EpilepsyResearch

🚀 New Insights into Alzheimer’s Disease: The Role of APOE4 and TREM2-R47H 🚀 Exciting new research from Gillian K. Carling and colleagues reveals critical insights into the mechanisms driving Alzheimer’s disease (AD). 🧠 🔬The study highlights the combined impact of the APOE4 allele and the TREM2-R47H variant, particularly in female mice, on exacerbating tau-induced neurodegeneration. In other words, the detrimental effects of APOE4-R47H are more pronounced in female mice. 🧬 Furthermore, the study found that APOE4-R47H amplifies microglial cGAS-STING signaling, leading to increased inflammation and neurodegeneration. The findings point to cGAS-STING signaling and microglial senescence as potential targets for therapeutic intervention. 📚 In summary, this study underscores the importance of understanding genetic interactions and their role in AD progression, and emphasizes the need for sex-specific research in this disease. You can check the full article here: https://lnkd.in/dEwUj5kb #AlzheimersDisease #Neurodegeneration #Genetics #Research #Healthcare

Endometriosis research focuses on understanding the causes, mechanisms, and consequences of this chronic and debilitating disease. Scientists investigate the role of hormonal, genetic, and environmental factors in the development and progression of endometriosis. Current research areas include the identification of biomarkers for early diagnosis, the development of novel therapeutic strategies, and the exploration of potential links with other diseases, such as infertility and ovarian cancer. Access our journal here : https://lnkd.in/gYfCfXh8 Submit manuscript online here : https://lnkd.in/dwQpT-AC For any queries whatsapp @ +1(438)699-5365 #EndometriosisResearch #Endometriosis #WomenHealth #ReproductiveHealth #Endometrialimplants #Endometriosisbiomarkers #Endometriosisassociatedpain #Submissionopen

🔬 We are thrilled to share a recent clinical case article shedding light on NESCAV syndrome – a neurodegenerative disorder marked by developmental delay, spasticity, and behavioral anomalies. In this study, a three-year-old girl with bilateral optic nerve atrophy and developmental delay underwent genetic analysis. Key Findings: 🧬 Identified pathogenic variant: KIF1A gene (NM_001244008.2:c.760C>T, p.Arg254Trp, rs879253888), linked to NESCAV syndrome.  👨👩👧👦 De novo occurrence: Both parents unaffected, indicating a new genetic variant in the patient. Read the full article here: https://lnkd.in/dE-aR6A4 🌐 #Genetics #NESCAVsyndrome #MedicalResearch #PrecisionMedicine

Pediatric #Cardiomyopathy is a chronic disease of the heart muscle that affects the ability of the heart to effectively pump blood throughout the body. This September, support the Children's Cardiomyopathy Foundation in recognizing Children’s Cardiomyopathy Awareness Month. Together, we’re shining a light on this complex, rare, and potentially life-threatening disease. We are committed to working closely with patients, medical professionals, and the scientific community to bring renewed hope to patients and their families as we seek gene therapy cures for those affected by devastating genetic diseases. Learn more about our ongoing clinical trials in Danon disease and PKP2-arrhythmogenic cardiomyopathy (ACM): https://lnkd.in/ez42wgbj. #GeneTherapy #RareDiseases #CCAM

Review by Dr. Takeshi Tokuyama and Prof. Shigeru Yanagi summarizes the role of mitochondrial morphology in heart diseases for each mitochondrial morphology regulatory gene, and their potential as therapeutic targets to heart diseases: https://lnkd.in/dS_cYtuq

Did you know? LCA was first identified by the German ophthalmologist Theodor Leber in 1869, it has since been studied extensively, bringing hope for better understanding and treatment. Over the years, advancements in genetics and ophthalmology have shed light on the complex mechanisms underlying LCA. With the discovery of various genetic mutations associated with the condition, researchers have made significant strides in developing targeted therapies and gene therapies aimed at restoring vision. Hope in Focus is dedicated to raising awareness and supporting research efforts to combat LCA and other retinal diseases. Together, let's continue spreading hope and empowering those affected by vision loss. More about LCA : https://loom.ly/gs7sJ1Y Information regarding LCA's History: https://loom.ly/AZyKq5Y # LCA #LeberCongenitalAmaurosis #HopeInFocus #HIF #FunFacts

If this is as good as it sounds it should be a routine check for all school kids even though it is not commonly associated with SUD in athletics etc. As opposed to HCM. Presumably a simple salivary sample and a result within 4 weeks and at what price point? https://lnkd.in/emvJ_2X2

Current research indicates that up to 212,000 (1 in 117) people are living with #Parkinson’s disease in Australia. Parkinson’s is the fastest growing neurodegenerative disorder causing motor disability in our ageing population and the second most common neurological condition in Australia. As of now, there is no cure for the disease. Today, as we mark World Parkinson’s Disease awareness day, we would like to spotlight the research of Professor Carolyn Sue MB BS, PhD, FRACP AM, Kinghorn Chair, Neurodegeneration. Professor Sue and her team of dedicated clinicians are committed to discovering a treatment that would help improve the quality of life for people living with Parkinson’s. “At the moment, treatments are focused on relieving symptoms, but none of them stop the disease or delay the progression of the disease. As the inaugural Kinghorn Chair, Neurodegeneration at NeuRA, my new study seeks to determine if the Nix protein restores mitophagy and mitochondrial function in the PINK1/PARKIN gene mutations. If successful, my Nix gene therapy would be the world’s first neuroprotective treatment against Parkinson’s disease,” says Professor Sue. Meet Professor Sue in this short video and find our more about our Parkinson’s research on our website: https://lnkd.in/gytsJV9F  #ParkinsonsAwarenessMonth #SlowStopCureParkinsons.