Genetic Alliance UK’s Post

🔬 Summarizing Genetic Mutations Linked to Breast Cancer in Pakistan This brief overview highlights the critical research on genetic mutations associated with breast cancer in Pakistani patients. The slide breaks down the methodology, key findings, and the gaps in current understanding. Kudos to Miss Asma Arshad, Deputy Director at the Research and Publication Department, Health Bridge Pakistan, for putting together this insightful summary. Keep an eye out for this content on our Health Bridge Pakistan social media pages. World Health Organization Centers for Disease Control and Prevention United Nations National Institutes of Health Pakistan (NIH) #BreastCancerResearch #Genetics #HealthBridgePakistan #MedicalResearch

🌍 World Sickle Cell Day: Raising Awareness, Inspiring Change 🌍 June 19 Today, on World Sickle Cell Day, we come together to shine a light on sickle cell disease (SCD) – a genetic condition affecting millions worldwide. SCD causes red blood cells to become rigid and shaped like crescents, leading to severe pain, organ damage, and increased risk of infection. Despite its prevalence, it remains underrepresented and often misunderstood. Raising awareness is crucial. It not only fosters understanding and empathy but also drives support for research, better treatments, and ultimately, a cure. Here are a few reasons why spreading awareness about sickle cell disease is essential: 🔬 Promoting Research and Innovation: Increased awareness can lead to more funding for research. Advancements in gene therapy and other innovative treatments offer hope for improved quality of life and a potential cure. ❤️ Awareness empowers individuals and communities to advocate for better healthcare policies, ensuring those affected by SCD receive the necessary care and support. 👩⚕️ Educating the public and healthcare professionals about SCD can lead to earlier diagnoses and more effective management, significantly improving patient outcomes. 🤝 Awareness fosters a more inclusive and compassionate society. Understanding the challenges faced by those living with SCD can inspire us to offer support and solidarity. As we mark this important day, let’s remember the resilience and strength of those living with sickle cell disease and their families. Let’s commit to being part of the solution by raising our voices, supporting research, and advocating for better care and policies. Together, we can make a difference. 🌟 #WorldSickleCellDay #SickleCellAwareness #HealthcareAdvocacy #SupportResearch #InspireChange

✨Tom and Rosie, two incredible children who are among only seven confirmed cases worldwide with an ultra-rare disease: DHDDS gene mutation.  Children with pathogenic DNA sequence variants in the DHDDS gene can experience developmental delays and seizures, along with symptoms such as psychosis, Parkinsonism and dementia. NATA is supporting the goals and initiatives of Cure DHDDS, the charity Mel and Charlies founded to raise awareness, support families, and drive research into this ultra-rare condition.  🧬The urgency to find treatments for ultra-rare conditions cannot be overstated. With advancements in ASO therapies, there's hope for improving the lives of those affected by conditions like DHDDS. But this progress relies on funding and research support. Every contribution brings us one step closer to finding treatments and offering hope to families like Tom and Rosie's.  🔗 Learn more about Cure DHDDS: curedhdds.org  Support their fundraising efforts: https://lnkd.in/eYvK-J5N. 🙏 By raising awareness, supporting research, and fostering collaboration, we can make a meaningful difference in the lives of those who are affected by rare diseases like DHDDS.  #DHDDS #NATA #ASOTherapies #UltraRareDisease #RareDisease #RareDiseases #Research #science #oligonucleotides #pharma #pharamaceutical #RNAdelivery #RNAtherapeutics #RNAtherapies #therapeutics #biotech #biotechnology #AdvancedTherapies #GlobalHealth #NATs #Healthcare #Impact #Industry #Innovation #AdvancedTherapies #biopharma #biotech #biotechnology #clinicalresearch #drugdesign #drugdevelopment #drugdiscovery #genomics #GeneTherapy #health #HealthcareInnovation #PrecisionMedicine #HealthcareResearch #Healthcare https://lnkd.in/eyvxvCEz 

Today is #rarediseaseday Rare Disease Day is observed on 28 February or 29 in leap years – the rarest day of the year. The movement is aimed at raising awareness and generating change for the 300 million people worldwide living with a rare disease, as well as their families and caregivers. A rare disease (or orphan disease) is a disease that affects a small percentage of the population. ❗A disease is rare when it affects fewer than 1 in 2,000 people ❗More than 6,000 rare diseases are identified ❗72% of rare diseases are genetic ❗70% of rare diseases start in childhood This rarity results in little funding or research for treatments. That is why Rare Disease Day works towards equity in social opportunity, healthcare and access to diagnosis and therapies. However, the rise of cell and gene therapies shows promise to offer patients a better chance at long-term improvements. We are proud to be supporting these advances with our cell culture products. Learn more about Rare Disease Day via https://lnkd.in/etGpncj #rarediseases #celltherapy #genetherapy #cancer #geneticdisease

As we recognize GRIN Disorder Awareness Month, we are proud to stand alongside CureGRIN Foundation, GRIN2B Foundation, Grin Europe, and other global leaders in advocacy to show our support for individuals and families impacted by GRIN-related disorders.   GRIN-related disorders are a family of rare, genetically defined pediatric neurodevelopmental disorders caused by mutations in a group of genes known as “GRIN” genes that include GRIN1, GRIN2A, GRIN2B, and GRIN2D. GRIN-related disorders represent a significant area of unmet need, and we are dedicated to driving progress in research to potentially make a meaningful difference in the lives of people with #rarediseases. Join us this month as we focus on each of four GRIN genes and share stories from the GRIN community. Learn more about #GRINDisorderAwarenessMonth and how you can contribute to the collective effort to spread awareness: https://lnkd.in/eXvBhh8Z

Rare disease is hard. The science is hard and yes, the business of ultra-rare is (lately) harder still. But the words “It’s just too rare; there will be no treatment in your child’s lifetime or possibly you own lifetime,” are the hardest of all. My family heard those words about our daughter and sister, Taylor, more than 17 years ago. We knew very little about rare disease, but there was one thing we knew for sure — CLN1 disease was going to get the fight of a lifetime, and an army of supporters joined our cause. On Rare Disease Day 2013, we announced our support of a CLN1 disease study with Steven Gray. Eleven years later, a child has been treated. I wish that I could adequately describe my family’s joy in this news. It’s humbling to think of the many people on the path to treating Charlie who believed with us, cared with us, and shared with us. It’s also a somber moment. For parents of a child with CLN1 disease, eleven years feels like a lifetime, in fact, it IS a lifetime. We can do better. We need earlier diagnosis to enable treatment at a time that makes sense for these children. We need a regulatory pathway that makes sense for ultra-rare diseases. We need to give these innovative treatments a chance. We need to create hope for more children and families. We can do better. We MUST do better.

Here's a fascinating DNA fact for you: Did you know that DNA variations play a crucial role in determining an individual's risk of developing certain diseases? Many of these diseases have well-established evidence for genetic testing. Take, for instance, hereditary breast and ovarian cancer syndrome (HBOC), caused by mutations in the BRCA1 and BRCA2 genes. This CDC Tier 1 condition is associated with an increased risk of breast, ovarian, and other cancers. As we celebrate DNA Day, let's recognize the importance of genetic testing in identifying and managing disease risks. By empowering employees to understand their genetic makeup, we enable them to make informed decisions about their health and well-being. Here's to unlocking the secrets of our DNA for a healthier future! #DNADay #Genetics #Healthcare #BRCA #CancerAwareness #EmployeeHealth #EmployerBenefits #HRManagers #BenefitsBrokers #BenefitsConsulting #HealthcareBrokers #EmployeeBenefitsConsulting #BenefitsAdvisors #DiseaseRisk #GeneticTesting #HealthAndWellbeing #CancerPrevention #HereditaryConditions

#Cell death supports morphogenesis during development and homeostasis after birth by removing damaged or obsolete cells. It also curtails the spread of pathogens by eliminating infected cells. Cell death can be induced by the genetically programmed suicide mechanisms of #apoptosis, #necroptosis, and #pyroptosis, or it can be a consequence of dysregulated metabolism, as in #ferroptosis. Here, Dear Dr. Vishva M. Dixit’s team review the #signaling mechanisms underlying each cell-death pathway, discuss how impaired or excessive activation of the distinct cell-death processes can promote disease, and highlight existing and potential therapies for redressing imbalances in cell death in cancer and other diseases.

Understanding Familial Hypercholesterolemia (FH) 🫀 What is Familial Hypercholesterolemia (FH)? Familial Hypercholesterolemia (FH) is a genetic disorder causing high levels of low-density lipoprotein (LDL) cholesterol, or "bad cholesterol," from birth. This increases the risk of early heart disease. It’s caused by gene mutations that hinder LDL cholesterol removal from the bloodstream, leading to its accumulation. 🔎 Learn More: https://lnkd.in/gbhPfqeK Thank you for reading! If you enjoyed this post, please like and follow us for more updates. To learn more about our work or to support My Heart Matters, a registered nonprofit dedicated to supporting heart attack survivors, visit us at https://lnkd.in/d6bnCMnA #HeartHealth #FamilialHypercholesterolemia #LipoproteinA #MyHeartMatters

#Autoimmunity | #SLE | Coming of #Age: the Formation & Function of Age-Associated #Bcells | Is Becoming an #ABC as Simple as #ZEB2 🤔 | Breaking 'Research Highlight'* on Major Science Magazine Study Now Online 👍 | "In summary, Dai et al**. present an elegant and comprehensive study on the transcriptional control of the formation and function of ABCs by ZEB2, which demonstrates the identity of ABCs as a unique B-cell subset and contributes to the development of new targeted therapies for autoimmune disease, infectious disease, and age-associated inflammation". Age-associated B cells (ABCs) are a distinct subset of B cells that accumulate as we age and during some chronic infections. ABCs also contribute to the pathogenesis of certain autoimmune diseases such as systemic lupus erythematosus and multiple sclerosis. Dai et al** identify the transcription factor ZEB2 as critical in driving ABC formation and pathogenicity in both mice and humans. ZEB2 promotes the gene signature, phenotype (e.g., CD11c expression), and function (e.g., phagocytic ability) of ABCs. Moreover, ZEB2 represses MEF2B, a transcription factor that instructs germinal center development, which consequently steers ABCs toward an extrafollicular response. ZEB2’s regulation of ABCs also requires JAK-STAT signaling, which suggests that targeting this pathway may reduce ABCs in autoimmune disease. *https://lnkd.in/ex6Xzq4j. **https://lnkd.in/eFEchxi3 Celentyx Ltd Professor Nicholas Barnes PhD, FBPhS Omar Qureshi Catherine Brady Rizgar Mageed SCHEMATIC | ZEB2 regulates the formation and function of ABCs. ZEB2 promotes ABC differentiation by inhibiting Mef2b and inducing Itgax, contributing to the development of systemic lupus erythematosus (SLE) |