World Duchenne Organization’s Post

World Thalassemia Day! Thalassemia is a genetic disorder characterized by insufficient hemoglobin production, leading to a shortage of red blood cells and, consequently, anemia. While carriers of the thalassemia gene may lead normal lives, those with thalassemia major, have to undergo repeated transfusion, have increased susceptibility to various infections, hepatomegaly splenomegaly, bone issues and other health complications, including organ failure. Thalassemia can be of different types, but majorly can be alpha or beta. World Thalassemia Day is marked every year on May 8 to raise awareness around this genetic disorder, and support those who are struggling with it and their caregivers, support research for its cure, and busting myths around the disease. #peoplefirst #worldthalassemiaday #geneticdisorder #support #struggles #caregivers #research #myths #redbloodcells #healthcomplication

How to find mode of inheritance? What are the different ways in which a genetic condition can be inherited? Inheritance pattern Examples Autosomal recessive cystic fibrosis, sickle cell disease X-linked dominant fragile X syndrome X-linked recessive hemophilia, Fabry disease Y-linked Y chromosome infertility, some cases of Swyer syndrome Youtube video: https://lnkd.in/dxa_xnJw #nikolaysgeneticslessons

#Duchenne #MuscularDystrophy (#DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. Today on #WorldDuchenneAwarenessDay, you can empower children & adults living with #DMD and related #neuromuscular diseases by supporting Muscular Dystrophy Association's #30Day’sOfStrength at https://hubs.la/Q02P17MZ0

10 bleeding disorders are included in the 200 rare diseases being screened for in newborns as part of a new study. The screening uses blood taken from babies' umbilical cords to analyse the genetic code. The aim will be to enable early detection and diagnosis, allowing for the best possible treatment and minimising the short and long-term impact. The bleeding disorders included are afibrinogenemia, prothrombin deficiency, haemophilia A and B, Factor V, VII, X and XIII deficiency, Benard-Soulier syndrome and Glanzmann's Thrombasthenia. Find out more here https://lnkd.in/epig6YDg

At TRiNDS we are dedicated to advancing research in rare neuromuscular diseases such as Friedreich ataxia (FA). This progressive disorder, caused by genetic mutations, affects the nervous system and movement frequently resulting in symptoms such as loss of coordination, muscle weakness, and heart issues. Our dedicated team is committed to advancing the research needed to uncover effective treatments and ultimately a cure for FA. These efforts include conducting comprehensive clinical trials and collaborating with leading researchers in the field. TRiNDS continues to push the boundaries of what's possible in all research. Join us by raising awareness, supporting innovative research, and standing with the FA community in their fight for a cure. Learn more about TRiNDS involvement in life changing research at https://lnkd.in/ezna4UPz #ClinicalResearchOrganization #ClinicalTrials #DuchenneAwareness #MuscularDystrophy #MuscularDystrophyResearch #RareDiseaseResearch #ResearchForACure #PatientDrivenResearch

Duchenne Muscular Dystrophy (DMD) is a genetic disorder that remains without a cure. There are treatments available for certain forms of the condition. These treatments focus on improving lung muscle strength and can contribute to extending life expectancy for individuals affected by the disease. Learn more about DMD here -> www.mda.org. #DuchenneMuscularDystrophy #DuchenneMuscularDystrophyWeek #DMD #DMDweek #MuscularDystrophy #PHM #PerformanceHomeMedical

Understanding the Duffy-null phenotype, present in two-thirds of Black Americans, is crucial. It highlights how reliance on reference ranges based on European descent can lead to unnecessary procedures and inappropriate medical decisions. Let's strive for more inclusive medical practices! #HealthEquity #GeneticDiversity

Valuable information. The more I listen the more I question the metrics used by heathcare. Who is informing these metrics? What’s the composition of the clinical trials that informed this treatment? What’s the size of the experiment to make it standard?

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

This week, in Part 1 of our 'Spotlight Disease of the Week' series, we focus on Alport Syndrome, an inherited disorder of the basement membrane resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in genes that encode type IV collagen. Alport Syndrome manifests with various symptoms, including proteinuria, hematuria, variable hearing loss, and nephrosclerosis. In our upcoming Part 2 post, we'll explore the genetic mutations responsible for this condition, such as the COL4A4, COL4A5, and COL4A3 genes. Understanding these genetic factors is crucial for a comprehensive approach to diagnosis and treatment. If you'd like to deepen your understanding of Alport Syndrome and its impact on health or if you're interested in potential collaborations related to this condition, please don't hesitate to reach out to us. #SpotlightDiseaseOfTheWeek #AlportSyndrome #GeneticInsights #HealthAwareness #DhitiOmics