Spur Therapeutics’ Post

Today is World Sickle Cell Awareness Day! In this AJMC - The American Journal of Managed Care article, we shine a spotlight on a critical issue affecting millions worldwide—sickle cell disease (SCD). The challenges faced by those living with SCD are profound, but so are the advances being made in treatment and care. We invite you to join us and dive into the current landscape and the promising future of sickle cell disease. Explore new therapies and the ongoing challenges in logistics, access, and cost. Read more! #SickleCellAwareness #GeneTherapy #HealthCareInnovation #AJMC #WorldSickleCellDay #PatientAdvocacy #SCD

Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease. In this blog, we explore ALS and how CRISPR has offered hope for a cure.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. However, a possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested. In this study they identified seven novel heterozygous truncating variants in DAG1 segregating with isolated or pauci-symptomatic hyperCKemia in 12 individuals (4 cases inherited from similarly affected parents), supporting the pathogenic role of DAG1 haploinsufficiency in isolated or pauci-symptomatic hyperCKemia. https://lnkd.in/dEkJdcdd

For those dealing with autoimmune and immune-mediated disease, getting a diagnosis can be a lengthy process - - for even the best rheumatologists! The team led by Drs. Dajiang Liu & Laura Carrel have published important work on integrating single-cell eQTL with GWAS to identify risk genes for autoimmune and immune-mediated diseases, which is published in Nature Communications! #MDPhD #MSTP #PennState

Many diseases are caused by repetitive DNA sequences. Understanding the regulation of those repetitive sequences may hold the key for unlocking therapeutics for Huntington’s disease. Check the details here:

Join us for our webinar discussing metabolomic profiling of Parkinson's disease. Our expert will detail how their study compared treated and untreated patient's #metabolomic profile and incorporated #bioinformatics to uncover mechanisms of disease. https://mtbln.co/bboc0i

Today, on #WorldSickleCellDay, let's shine a light on the importance of early diagnosis for sickle cell disease. Sekbio's Rapid Test Kits provide a quick, cost-effective way to diagnose this genetic disorder, leading to better outcomes. Your awareness and support can make a difference! 💉🌍 Learn more: https://lnkd.in/g__mupXv #SickleCellAwareness #HealthEquity #GeneticCounseling

A well-written article today titled "Navigating the Present and Shaping the Future of Sickle Cell Disease." #GeneTherapy #CellandGeneTherapy #Casgevy #Lyfgenia #PatientAccess #SupplyChain #Logistics #Apheresis

Today is World Sickle Cell Disease Awareness Day! 🌍❤️ Sickle Cell Disease is a severe genetic disorder that affects millions worldwide. People carrying a homozygous single-point mutation (A>T) on codon 6 of the β-Globin gene, produce abnormal hemoglobin (HbS). This abnormal hemoglobin distorts red blood cells into a sickle shape, causing severe pain, anemia, and other serious health complications. 🩸😔 Early diagnosis is crucial as it allows for timely interventions that can significantly improve the quality of life of those affected. 🧬🔬 ViennaLab's commitment to better the lives of patients translates into relentless efforts to develop innovative diagnostic solutions, such as the β-Globin StripAssay®, which accurately detects the mutation responsible for Sickle Cell Disease. In addition, the β-Thal Modifier StripAssay® helps healthcare providers worldwide choose better treatments for patients suffering from Sickle Cell Disease. 🏥🧑⚕️ Let's raise awareness about Sickle Cell Disease, support those affected, and advocate for earlier intervention to improve the lives of millions around the globe! 🌟🤝 #SickleCellDisease #WorldSickleCellDay #GeneticDisorders #EarlyDiagnosis #ViennaLabDiagnostics

Thought this was quite an insightful article looking at transcription factor identification in a number of different #autoimmune diseases. By identifying #SNPs and modeling to determine alterations in binding of transcription factors to certain cell types, you can elucidate more information on the causative pathways important in understanding and hopefully therapeutically intervening in those autoimmune diseases. Some of the diseases they analyzed include #T1D, #MS and #RA. https://lnkd.in/gnbxtnxJ