TRiNDS’ Post

Dear colleagues, please visit our recently published article https://lnkd.in/eE-iCjmm in the Journal of Clinical Case Reports by Wiley. 🔹 This study reports a patient with a rare co-occurrence of myasthenia gravis and lichen planus and systematically reviews the English literature on this rare phenomenon from 1971 to 2024, indicating only 13 cases with similar conditions. 🔹While the exact pathogenesis of myasthenia gravis, lichen planus, and thymoma co-occurrence remains elusive, it suggests the possibility of a shared autoimmune mechanism. Various theories have been suggested to explain the association between thymoma and autoimmune disorders or paraneoplastic syndromes due to T lymphocyte dysfunction, genetic predisposition, and environmental factors. 🔹Nonetheless, instances of myasthenia gravis and lichen planus co-occurring without thymoma suggest that these conditions might arise independently of paraneoplastic syndromes due to a dysregulated immune response. Many thanks to my dear co-authors Mobina Amanollahi and Bahareh Ahli. #autoimmune #myasthenia #thymoma

🌟 Disease Models - The Key to Unlocking Treatments for STXBP1 🔗 https://lnkd.in/enED9zEx Our latest blog post, written by Sagi Gidali, explores the critical role disease models play in our mission to find treatments for STXBP1 disorders. From C. elegans worms to cutting-edge human cell systems, these models are helping us unlock new therapeutic possibilities. Read the blog to learn more about how these models are pushing the boundaries of genetic research and making strides in understanding and treating STXBP1 🔬 #RafasMoonshot #STXBP1 #DiseaseModels #RareDiseaseResearch #InnovativeMedicine

Excited to unveiling my e-poster on Bardet-Biedl Syndrome! This research delves into the genetic and clinical aspects of this rare disorder, highlighting insights and potential therapeutic approaches. 📊 Key highlights include: - Comprehensive genetic analysis - Clinical manifestations and diagnosis - Potential pathways of treatment Your feedback and thoughts are highly appreciated. Let's connect and discuss how we can further the understanding and treatment of Bardet-Biedl Syndrome. #BardetBiedlSyndrome #GeneticResearch #RareDiseases #MedicalResearch #HealthcareInnovation

Raising Awareness about Hypertrophic Cardiomyopathy 🫀: A Denver Father's Story Hypertrophic Cardiomyopathy (HCM) is a serious heart condition that can affect anyone, including seemingly healthy individuals. A recent story from Denver highlights the importance of early detection and genetic testing. Meet a courageous Denver father who discovered he had HCM through genetic testing, potentially saving his life and that of his family members. His journey underscores the critical role of awareness and proactive healthcare. Full Article: https://lnkd.in/d6P3qUEk Join us in raising awareness about the importance of genetic testing. If you or someone you know has a family history of heart conditions, consider getting tested. Visit www.mapmygenome.in to learn more and order your genetic testing kit today! #GeneticTesting #HeartHealth #HypertrophicCardiomyopathy #HealthcareInnovation #StayInformed #StayHealthy #Mapmygenome #Knowyourself #Cardiomap #Wholeexomesequencing #WES #DNASequencing #DNATest #Genetictest #Genes #Familyhistory #Cardiomyopathi

August is Spinal Muscular Atrophy (SMA) Awareness Month! 🧠 Did you know? SMA is a genetic disorder that affects the motor neurons, leading to muscle weakness and atrophy. It's one of the leading genetic causes of infant mortality, but early diagnosis and treatment can make a significant difference. 🔬 Our ongoing clinical trials are focused on advancing treatments and improving outcomes for those affected by SMA. Your support helps drive vital research and offers hope to families. Learn more about our SMA clinical trials and how you can get involved: https://ow.ly/AMBc50SXTim #SMAAwareness #SpinalMuscularAtrophy #Research #ClinicalTrials #HopeForSMA #UCSD #UCSDACTRI #UCSanDiegoHealth

Williams syndrome is rare, often flying under the radar of public awareness. But it's time to change that narrative. Only through understanding and awareness can we rally the research interest and funding needed to unravel its mysteries. This syndrome is a contiguous gene syndrome, with deleted genes lining up within a specific critical region. Two DNA tests, FISH and Microarray, can confirm its presence. The medical profile of individuals with Williams syndrome varies widely. From cardiovascular issues to kidney anomalies and gastrointestinal problems, the spectrum is broad. Regular monitoring by knowledgeable physicians is crucial, though not every individual is affected in the same way. Despite its challenges, Williams syndrome is marked by remarkable strengths. Alongside developmental delays and learning challenges, individuals often exhibit impressive verbal abilities, boundless social personalities, and a deep love for music. It's crucial to spread awareness about Williams syndrome across all cultures and communities. Regardless of gender or background, anyone can be impacted. #WilliamsSyndromeAwareness #RareDisease #SupportAndLearn #rise4rare #rarediseasediversity #raiseawareness #zebrastrong

Highlights from the XXVIII IAPRD World Congress on Parkinson's Disease and Related Disorders—Chicago, IL, USA CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology Highlights • Dichotomy between CSF1R-ALSP and BANDDOS is obsolete and should be abandoned. • “CSF1R-related disorder” with division into early- and late-onset is more appropriate. • Monoallelic and biallelic CSF1R mutations may present with both early- and late-onset. • Genetics and environment converge to result in an individual disease phenotype. CSF1R-related disorder” with division into early- and late-onset is more appropriate. IAPRD Secretariat Log in : https://lnkd.in/gicfKiC7

Check out this impressive study!

In this Sickle Cell Awareness month, we hope to continue on the path that leads us away from the biased and inaccurate racialized legacy of sickle cell trait (SCT). Through 23andMe’s vast database, we were able to conduct a study on over 19,000 people of various ancestral groups with sickle cell trait. We were able to calculate the ancestry-independent risk of blood clots associated with SCT. The study found that the risk of blood clots was higher for those with SCT, but not as high when compared to those with Factor V Leiden mutation, which is an inherited blood clotting disorder. When looking at the types of blood clots, we found that the risk of pulmonary embolism was higher compared to risk of deep vein thrombosis. This is one of the largest and most diverse study populations for SCT. We hope this study is the first of many large-scale studies that investigate SCT and its associated health risks.

The epigenome is a dynamic force that can change dramatically as we age. In this fascinating review paper, the authors explore how DNA methylation changes during aging and how those patterns can predict future health and lifespan. The authors also explore how changes in methylation can affect the pathophysiology of age-related and neurodegenerative conditions, such as Parkinson's disease. Read more here: https://bit.ly/3UQ7kBg #Aging #Epigenetics