📃Scientific paper: Short structural variants as informative genetic markers for ALS disease risk and progression Abstract: There is considerable variability in disease progression for patients with amyotrophic lateral sclerosis (ALS) including the age of disease onset, site of disease onset, and survival time. There is growing evidence that short structural variations (SSVs) residing in frequently overlooked genomic regions can contribute to complex disease mechanisms and can explain, in part, the phenotypic variability in ALS patients. Here, we discuss SSVs recently characterized by our laboratory and how these discoveries integrate into the current literature on ALS, particularly in the context of application to future clinical trials. These markers may help to identify and differentiate patients for clinical trials that have a similar ALS disease mechanism(s), thereby reducing the impact of participant heterogeneity. As evidence accumulates for the genetic markers discovered in SQSTM1 , SCAF4 , and STMN2 , we hope to improve the outcomes of future ALS clinical trials. Continued on ES/IODE ➡️ https://etcse.fr/pMenK ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you. #amyotrophiclateralsclerosis #als #charcot
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📣 Cardio disease researchers 🧡🩺🥼 Don't miss out on this upcoming webinar Nov 16. Register here: https://lnkd.in/g-zU6h35 • Learn how a “disease-in-a-dish” approach can potentially improve the treatment of disease • Explore how analytical tools, such as the Agilent Technologies #xCELLigence RTCA CardioECR instrument, are used to elucidate the mechanisms of diseases and evaluate the effects of pharmacological and genetic interventions • Gain insights into genotype-phenotype association using patient-derived iPSCs • Understand the translational importance of targeted myosin inhibitor therapies for future clinical trials
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New research points to personalised Parkinson’s disease treatment. Imagine a future where Parkinson’s disease therapy isn’t one-size-fits-all, but tailored to each individual’s genetic makeup. Garvan’s A/Prof Antony Cooper presented new findings at the International MDS Congress in Philadelphia recently. Working with C4X Discovery, his team has identified genetic signatures linked to different treatment responses in Parkinson’s disease Phase 3 clinical trials. This research suggests that tailoring Parkinson’s treatment to a patient’s genetic subgroup could improve efficacy – an approach that may lead to more effective symptom management and potentially better outcomes. Congratulations to A/Prof Cooper and his team on a study that highlights the potential of precision medicine in Parkinson’s care. #ParkinsonsResearch #PrecisionMedicine #GarvanInstitute #Genetics
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Excited to share that our paper titled "Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis" was published a year ago! 📄✨ in Frontiers. This research proposed a novel strategy for unraveling the complex genetic architecture of IBD by integrating WES data of familial cases, with computational analysis. Thank you to everyone involved in this journey! #Research #InflammatoryBowelDisease #Genomics https://lnkd.in/diFmVWCp
Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis
frontiersin.org
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AMMG Webinar: Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol - REGISTER: https://lnkd.in/ergw-bea Date: Wednesday, March 20, 2024 - Time: 8pm EST / 7pm CST / 5pm PST (60 min) QUESTIONS? 📞 (239) 330-7495 OR 📤 conference@agemed.org You're invited to join our next webinar on "Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol" featuring Dr. Sharon Hausman-Cohen, Owner & Co-Founder of Resilient Health and Chief Medical Officer of IntellxDNA. In this webinar Dr. Sharon Hausman-Cohen will share genetically triggered factors that contribute to heart disease and how to address them. Highlights include: - Learn about little known risk factors that can convey higher risks than hyperlipidemia - Find out about genetically triggered factors that contribute to heart disease - Understand lesser known cardiac interventions like, vitamin K2, Spironolactone, Curcumin and Nattokinase - And more! Dr. Sharon Hausman-Cohen is a renowned expert in the field, bringing a wealth of knowledge and experience to guide you through the latest advancements in preserving longevity. Don't miss this opportunity to learn from a leading figure in genetic medicine. #CaridacHealth #AMMG #AgeManagementMedicine #CMEEducation #ContinuingMedicalEducation #CMEConferences IntellxxDNA®
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After one year, our findings are now available for public access through PubMed Central (PMC). This work focuses on unveiling the genetic characteristics underlying congenital hydrocephalus and familial Parkinson’s Disease (PD), two complex neurological conditions that affect millions worldwide. Please explore the difference! https://lnkd.in/gtBRwfR8 "...(exerpt of the message from the NIH) "X-linked hydrocephalus genes: their proximity to telomeres and high A+T content compared to Parkinson’s disease" (NIHMS1904144) Dear NIHMS Customer, You are receiving this email because you are associated with the above-listed manuscript in the NIH Manuscript Submission (NIHMS) system. The manuscript is now available in PubMed Central (PMC) for public access in compliance with the funder's public access policy (see https://lnkd.in/ggh8nPEZ ): https://lnkd.in/gtBRwfR8 The submission process for this manuscript is complete. As always, please feel free to contact us with any questions at nihms-help@ncbi.nlm.nih.gov. Thank you, The NIHMS Help Desk..." We value the continued support of the scientific community and encourage feedback and collaboration to push the boundaries of what we can achieve together in the field of neurological research.
X-linked hydrocephalus genes: their proximity to telomeres and high A+T content compared to Parkinson’s disease
ncbi.nlm.nih.gov
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🌟 Unlock the future of healthcare with Knowledge Sourcing Intelligence's latest report on the Genomic Medicine Market! 🧬📈 Genomic medicine is revolutionizing the #healthcareindustry by offering personalized #treatment and #precisionmedicine based on an individual's genetic makeup. Our comprehensive report provides valuable insights into #markettrends, growth drivers, key players, and regional dynamics shaping this transformative field. Explore how advancements in #genomics are leading to groundbreaking developments in the diagnosis, treatment, and prevention of diseases. From cancer and rare genetic disorders to infectious diseases, genomic medicine holds the promise of more effective and tailored healthcare solutions. Stay informed and ahead of the curve in this rapidly evolving market. Click the link below to access the full report and discover the opportunities within the Genomic Medicine Market. https://lnkd.in/giHxM-mN #GenomicMedicine #PersonalizedHealthcare #MarketInsights #healthcare #HealthcareInnovation #Genomics 🧬🌐📊
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【Decoding Rare Disease - Alagille Syndrome】 Promoting understanding of genomic medicine and its clinical applications among the community has always been one of the key areas that HKGI focuses on. We are pleased to share that our Chief Medical and Scientific Officer, Dr Hon-Yin Brian Chung, and our Consultant (Genomics), Dr Josephine Chong, recently delivered interviews for the popular TV programme "Vital Lifeline" (最強生命線) produced by TVB as part of a series introducing various rare diseases. In one of the first few episodes that have just been broadcast, Dr Chung discussed Alagille syndrome, a genetic disorder that can affect the liver, heart, and other parts of the body. Citing a newborn case from the Hong Kong Genome Project implemented by HKGI, Dr Chung explained the disease’s symptoms and the applications of whole genome sequencing (WGS) technology along the patient journey. The use of WGS in this case was pivotal, enabling accurate diagnosis and tailored treatment plan. The sequencing results also guided the patient’s parents on future family planning. Watch the episode to learn more: https://lnkd.in/eYeSEpnD Stay tuned for upcoming sharing by Dr Chung and Dr Chong. #HKGI #HKGP #HongKongGenomeInstitute #GenomicMedicine #GenomeProject #MediaInterview #RareDisease #PersonalisedTreatments #TVB #VitalLifeline
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I will be presenting our upcoming study at the "Genomics of Rare Disease" #GRD24 conference at the Wellcome Connecting Science Learning and Training Genome Campus, Hinxton, UK. 🇬🇧 Our work on "Integrated Targeted Sequencing and MicroRNA Profiling Approach for the Development of a Postnatal Diagnostic Tool in CRTDs" focuses on tackling the complexities of diagnosing conditions including Rubinstein-Taybi Syndrome, Floating-Harbor Syndrome, Menke-Hennekam Syndrome, Coffin-Siris Syndrome, and Cornelia de Lange Syndrome. This research is a step towards precise and timely diagnosis, aiming to significantly impact patient care in rare diseases. 🔬
🇬🇧ToxGenSolutions is participating in the "Genomics in Rare Disease" #GRD24 conference at the Wellcome Connecting Science Learning and Training Genome Campus in Hinxton, UK. Our poster presentation and pitch, led by Keano Achilleas S. and supported by Stan Goertz, MSc, will discuss the study "Integrated Targeted Sequencing and MicroRNA Profiling Approach for the Development of a Postnatal Diagnostic Tool in Chromatin Remodeling and Transcriptional Regulation Disorders (CRTDs)". The study addresses diagnostic challenges in CRTDs, including Rubinstein-Taybi Syndrome, Floating-Harbor Syndrome, Menke-Hennekam Syndrome, Coffin-Siris Syndrome, and Cornelia de Lange Syndrome. By combining targeted sequencing and microRNA profiling, our objective is to clarify the genetic and epigenetic mechanisms that underpin these disorders. This approach aims to advance the development of a diagnostic tool that improves accuracy and efficiency in diagnosing CRTDs. This effort reflects our commitment to enhancing understanding and management of rare diseases through genomic and epigenetic research. We anticipate engaging with the academic community at the conference to share insights and explore the potential of genomics in rare disease diagnosis and treatment. #GenomicsInRareDisease #Hinxton #Wellcome #CRTDs #RareDiseaseResearch #ToxGenSolutions #GenomicInnovation #Transcriptomic #Epigenetic #microRNA #RubinsteinTaybiSyndrome #FloatingHarborSyndrome #MenkeHennekamSyndrome #CoffinSirisSyndrome #CorneliadeLangeSyndrome
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AMMG Webinar: Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol - REGISTER: https://lnkd.in/ergw-bea Date: Wednesday, March 20, 2024 - Time: 8pm EST / 7pm CST / 5pm PST (60 min) QUESTIONS? 📞 (239) 330-7495 OR 📤 conference@agemed.org You're invited to join our next webinar on "Clinical Considerations For Cardiac Health In Both Men & Women: Beyond Cholesterol" featuring Dr. Sharon Hausman-Cohen, Owner & Co-Founder of Resilient Health and Chief Medical Officer of IntellxDNA. In this webinar Dr. Sharon Hausman-Cohen will share genetically triggered factors that contribute to heart disease and how to address them. Highlights include: - Learn about little known risk factors that can convey higher risks than hyperlipidemia - Find out about genetically triggered factors that contribute to heart disease - Understand lesser known cardiac interventions like, vitamin K2, Spironolactone, Curcumin and Nattokinase - And more! Dr. Sharon Hausman-Cohen is a renowned expert in the field, bringing a wealth of knowledge and experience to guide you through the latest advancements in preserving longevity. Don't miss this opportunity to learn from a leading figure in genetic medicine. #CardiacHealth #AMMG #AgeManagementMedicine #CMEEducation #ContinuingMedicalEducation #CMEConferences IntellxxDNA®
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🇬🇧ToxGenSolutions is participating in the "Genomics in Rare Disease" #GRD24 conference at the Wellcome Connecting Science Learning and Training Genome Campus in Hinxton, UK. Our poster presentation and pitch, led by Keano Achilleas S. and supported by Stan Goertz, MSc, will discuss the study "Integrated Targeted Sequencing and MicroRNA Profiling Approach for the Development of a Postnatal Diagnostic Tool in Chromatin Remodeling and Transcriptional Regulation Disorders (CRTDs)". The study addresses diagnostic challenges in CRTDs, including Rubinstein-Taybi Syndrome, Floating-Harbor Syndrome, Menke-Hennekam Syndrome, Coffin-Siris Syndrome, and Cornelia de Lange Syndrome. By combining targeted sequencing and microRNA profiling, our objective is to clarify the genetic and epigenetic mechanisms that underpin these disorders. This approach aims to advance the development of a diagnostic tool that improves accuracy and efficiency in diagnosing CRTDs. This effort reflects our commitment to enhancing understanding and management of rare diseases through genomic and epigenetic research. We anticipate engaging with the academic community at the conference to share insights and explore the potential of genomics in rare disease diagnosis and treatment. #GenomicsInRareDisease #Hinxton #Wellcome #CRTDs #RareDiseaseResearch #ToxGenSolutions #GenomicInnovation #Transcriptomic #Epigenetic #microRNA #RubinsteinTaybiSyndrome #FloatingHarborSyndrome #MenkeHennekamSyndrome #CoffinSirisSyndrome #CorneliadeLangeSyndrome
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