Honoring Rare Disease Day: Shedding Light on the Unseen Struggles Every year, on the last day of February, the world comes together to observe Rare Disease Day—a day dedicated to raising awareness about rare diseases and the challenges faced by those affected. Rare diseases, often referred to as orphan diseases, collectively impact millions globally, yet each individual condition is so rare that it may only affect a handful of people or even just one person in a given population. These diseases encompass a wide spectrum of conditions, from genetic disorders to autoimmune diseases, each presenting its own set of unique challenges. Despite their rarity, the collective impact of rare diseases is significant, with approximately 300 million people worldwide living with a rare disease. For those living with rare diseases, every day can be a battle. Misdiagnosis, lack of treatment options, and limited access to specialized care are just a few of the hurdles they face. Furthermore, the burden extends beyond the patients themselves, affecting their families, caregivers, and communities. Rare Disease Day serves as a platform to amplify the voices of those affected, advocating for greater awareness, research, and support. It fosters collaboration among patients, healthcare professionals, researchers, and policymakers to address the unmet needs of the rare disease community. In recent years, significant strides have been made in advancing research and treatment for rare diseases. Breakthroughs in genomic sequencing, precision medicine, and gene therapy offer hope for many who previously had few options. However, there is still much work to be done to ensure equitable access to these innovations for all those in need. As we commemorate Rare Disease Day, let us not only celebrate the resilience of those living with rare diseases but also reaffirm our commitment to creating a world where every individual, regardless of the rarity of their condition, has access to timely diagnosis, effective treatment, and compassionate care. Together, we can shine a light on the unseen struggles of the rare disease community and work towards a future where no disease is too rare to matter. #rarediseases #stem #academia
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See my latest co-authored publication: Identification of GTF2I Polymorphisms as Potential Biomarkers for Chronic Kidney Disease in the Han Chinese Population. Excited about my new Kudos profile and sharing my publication
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𝐑𝐞𝐯𝐨𝐥𝐮𝐭𝐢𝐨𝐧𝐢𝐳𝐢𝐧𝐠 𝐑𝐚𝐫𝐞 𝐃𝐢𝐬𝐞𝐚𝐬𝐞 𝐓𝐫𝐢𝐚𝐥𝐬 𝐰𝐢𝐭𝐡 𝐆𝐏𝐂 Rare disease trials are challenging—small populations, complex symptoms, and high stakes for diagnosis and recruitment. Traditional trials often focus on a single primary outcome, overlooking what matters most to patients and clinicians. At One2Treat, we’re changing this by incorporating multiple prioritized outcomes into one single endpoint. This approach gives patients a stronger voice, addresses their needs and expectations, and enables smaller sample sizes, better adherence, and more robust benefit-risk assessments. In our recent 𝐒𝐚𝐧𝐟𝐢𝐥𝐢𝐩𝐩𝐨 𝐀 𝐬𝐲𝐧𝐝𝐫𝐨𝐦𝐞 𝐭𝐫𝐢𝐚𝐥, we significantly reduced sample size while maintaining statistical power—an innovation gaining attention from the 𝐅𝐃𝐀 and 𝐄𝐌𝐀. We’re proud that we could share this work, now-published in The European Conference on Rare Diseases and Orphan Products 2024 abstract. Advancing rare disease research and patient-centered innovation together is an honor. 🌟 Read the full abstract here ➡️ https://lnkd.in/e4KmPA9W Thanks to Orphanet for publishing and Jean-Christophe Chiêm, PhD, Samuel Salvaggio, PhD, Vaiva Deltuvaite - Thomas, Mickaël De Backer and Marc Buyse for their input. #ECRD2024 #RareDiseases #ClinicalTrials
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products - Orphanet Journal of Rare Diseases
ojrd.biomedcentral.com
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The #ECRD2024 meeting has been a remarkable opportunity to connect with inspiring stakeholders in the #raredisease community. The challenges faced by #patients, clinicians, and caregivers are a profound lesson in humility. Yet, their passion and dedication serve as a constant source of #inspiration for my daily work. This publication in the #Orphanet Journal of Rare Diseases highlights how One2Treat offers solutions to the unique challenges of rare diseases.
𝐑𝐞𝐯𝐨𝐥𝐮𝐭𝐢𝐨𝐧𝐢𝐳𝐢𝐧𝐠 𝐑𝐚𝐫𝐞 𝐃𝐢𝐬𝐞𝐚𝐬𝐞 𝐓𝐫𝐢𝐚𝐥𝐬 𝐰𝐢𝐭𝐡 𝐆𝐏𝐂 Rare disease trials are challenging—small populations, complex symptoms, and high stakes for diagnosis and recruitment. Traditional trials often focus on a single primary outcome, overlooking what matters most to patients and clinicians. At One2Treat, we’re changing this by incorporating multiple prioritized outcomes into one single endpoint. This approach gives patients a stronger voice, addresses their needs and expectations, and enables smaller sample sizes, better adherence, and more robust benefit-risk assessments. In our recent 𝐒𝐚𝐧𝐟𝐢𝐥𝐢𝐩𝐩𝐨 𝐀 𝐬𝐲𝐧𝐝𝐫𝐨𝐦𝐞 𝐭𝐫𝐢𝐚𝐥, we significantly reduced sample size while maintaining statistical power—an innovation gaining attention from the 𝐅𝐃𝐀 and 𝐄𝐌𝐀. We’re proud that we could share this work, now-published in The European Conference on Rare Diseases and Orphan Products 2024 abstract. Advancing rare disease research and patient-centered innovation together is an honor. 🌟 Read the full abstract here ➡️ https://lnkd.in/e4KmPA9W Thanks to Orphanet for publishing and Jean-Christophe Chiêm, PhD, Samuel Salvaggio, PhD, Vaiva Deltuvaite - Thomas, Mickaël De Backer and Marc Buyse for their input. #ECRD2024 #RareDiseases #ClinicalTrials
Meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products - Orphanet Journal of Rare Diseases
ojrd.biomedcentral.com
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Such a well written and interesting article! Bronchiectasis is a condition that can easily be underdiagnosed or missed altogether! Causes of the disease have been widely unknown! This article sheds light on causes, phenotyping and categorising the different types of these disease.
Pathophysiology and genomics of bronchiectasis
err.ersjournals.com
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"Immune monitoring and treatment in immune-mediated inflammatory diseases" Immune-mediated inflammatory diseases (IMIDs) can occur in a number of organ systems as a result of aberrant innate and adaptive immune responses to genetic and environmental triggers. Immune-monitoring technologies are used to detect disease-relevant immune biomarkers, either to enable diagnosis or monitor response to therapy. Immune monitoring is predominantly used in the research setting at present but routine clinical use is increasing. This poster explores the mechanisms underlying a number of common IMIDs, biomarkers relevant to the diagnosis or monitoring of IMIDs, and therapies used to treat these diseases. https://lnkd.in/dRcEuyJj #Immune_mediated_inflammatory_diseases #biomarkers #Immune_Monitoring #Autoimmune Diseases
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ANNOUNCEMENT: Over the next few weeks we will be posting on a range of topics around rare diseases - their causes, nature, impacts and treatments. The first post (below) is about the number and nature of rare diseases. The full list of topics we will post about is: - Rare diseases – not a numbers game - What exactly is TUBB4A leukodystrophy? - What is gene silencing – and how does an antisense oligonucleotide work? - The nature and impacts of TUBB4A leukodystrophies - What are orphan drugs and what rules apply to them? - How are clinical trials organised and run? Rare Diseases – not a numbers game* TUBB4A leukodystrophy is just one of a large and increasing number of recognised rare diseases. Estimates vary, but the general consensus is that there are somewhere between 6,000 and 10,000 worldwide. Definitions vary too: United States: 1 in less than 200,000 people European Union (including UK): 1 in less than 2,000 people. Japan: 1 per 2,500 people. World Health Organization: 65 per 100,000 people. However they are defined and counted, we can all agree they affect a small number of people - but because there are so many, today approximately 300 million people worldwide live with a rare disease. What are the defining characteristics of rare diseases? Around 80% of have a genetic cause, and almost 70% of those develop symptoms in childhood. Sadly, given their generally life-limiting impact, only about 5% have approved treatments; equally sad is that the average time for an accurate diagnosis is 4-8 years. Tragically, 30% of children with a rare disease die before age 5 years. This is why we do what we do. *The figures quoted are from several sources: WHO/Orphanet, NORD and The Lancet, though multiple sources use figures in that range.
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New Breakthrough in Huntington's Disease Research: Targeting Protein for Potential Treatment #breakthroughinHuntingtonsdiseaseresearch #huntingtinprotein #Huntingtonsdiseaseresearch #newdrugsforHuntingtonsdisease #potentialtherapeutictargetforHuntingtonsdisease
New Breakthrough in Huntington's Disease Research: Targeting Protein for Potential Treatment | US Newsper
usnewsper.com
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Our paper is finally out 📢 🎉 Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform
Autozygome‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform
onlinelibrary.wiley.com
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We were all thrilled to see Celine Dion's return to the stage at the #ParisOlympics2024. Her journey with #StiffPersonSyndrome highlights the challenges faced by those with #autoimmune diseases, and there are many autoimmune diseases like hers still waiting to be fully understood. I think we were never this close to uncovering the mechanisms and solving these diseases before #singlecell and #spatial technologies. Just read this insightful paper on the use of spatial and single-cell transcriptomics to explore autoimmune thyroid diseases. Unraveling these mechanisms is crucial for developing effective treatments:
Unraveling the molecular architecture of autoimmune thyroid diseases at spatial resolution - Nature Communications
nature.com
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Happy to share some work from my PhD :) In this preprint, we investigated the role of genes related to 52 aging-related diseases using data from the UK Biobank and a network approach. We found that genes directly associated with multiple aging-related diseases (i.e., pleiotropic genes) are often linked to immunological disorders, but do not overlap with aging-related genes. Instead, aging-related genes tend to connect with multiple aging-related diseases through indirect interactions. We then analyzed the differences between these two groups of disease-connecting genes (direct and indirect). We found a polarizing effect: genes directly connecting multiple aging-related diseases exhibit high tissue-specific expression but low coexpression with disease-related genes. Conversely, indirectly-connecting genes show low tissue-specificity but high coexpression with disease-related genes. Lastly, we used machine learning to predict potentially novel aging-related genes based on the network connections. This work paints a deeper picture of the multiple types of interactions between ageing-related processes and ageing-related diseases.
Despite their differences, ageing-related diseases may share underlying biological processes related to ageing. We analyzed the relationship between genes and 52 ageing-related diseases using UK Biobank data and found that most genes related to ageing are not directly linked to ageing-related diseases but are closer to multiple diseases through indirect connections. Moreover, genes affecting multiple age-related diseases are mainly linked to immune system disorders. We also use machine learning to predict new ageing-related genes based on their connections to ageing-related diseases. Huge work by University of Liverpool PhD student Gustavo Daniel Vega Magdaleno
Pleiotropy and Disease Interactors: The Dual Nature of Genes Linking Ageing and Ageing-related Diseases
biorxiv.org
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Supporting Academic Leadership | Executive Assistant to the Pro VC at REVA University
10moAwesome mahalakshmi s