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Did you know that as many as 7,000 rare diseases may affect millions of Americans? CBS News reported on the BabySeq Project in an interview with Dr. Robert Green and participants from the project on Rare Disease Day. Dr. Green shared his hopes for more screening for genetic conditions in newborn babies. Read more about Genomes2People Q1 progress here: https://lnkd.in/gi2pieq5 #newsletter #healthnewsletter #research #healthresearch #translationalresearch #science #scientificresearch #genetics #dna #genes #geneticresearch #geneticconditions #geneticdisorders #geneticdiseases #genetictesting #geneticcounseling #geneticcounselor #medicalgenetics #clinicalgenetics #geneticists #genome #genomics #preventivegenomics #translationalgenomics #genomicresearch #genomicsequencing #dnasequencing #genomesequencing #wholegenomesequencing #newbornscreening #newbornsequencing #newbornhealth #childhealth #health #precisionhealth #publichealth #populationhealth #preventivehealth #personalizedhealth #rarediseaseday #raredisease #primarycare #babyseq #newborn #healthcare #personalizedhealthcare #preventivehealthcare #preventativehealthcare #healthequity #medicine #precisionmedicine #genomicmedicine #preventivemedicine #preventativemedicine #personalizedmedicine #healthcommunication #sciencecommunication #scicomm

Understanding your genetic risk for Alzheimer's disease is crucial, especially if you have a family history of early-onset disease. 🧠 Genetic tests for APOE variants linked to Alzheimer's disease are more and more accessible, helping you to determine your risk for Alzheimer's disease. These tests can provide valuable insights, particularly if you have a strong history of early-onset disease, but there's a few things to know before you consider testing. Read our latest article on the benefits and limitations of APOE testing: https://lnkd.in/g-izMuTf #genetics #APOE #Alzheimers #testing #disease

To promote sickle cell awareness and fund services in the UK, the National Health Service (NHS) can implement several strategies. Firstly, launching nationwide educational campaigns through various media platforms, including social media, TV, and radio, to raise awareness about sickle cell disease (SCD), its symptoms, and management options. These campaigns can target both the general public and healthcare professionals to ensure early detection and appropriate management. Secondly, the NHS can collaborate with community organizations and support groups focused on sickle cell to organize workshops, seminars, and events aimed at educating communities, particularly those disproportionately affected by the disease. Furthermore, the NHS can allocate dedicated funding for research into improving SCD treatment and finding a cure. This can include funding for clinical trials, genetic counseling programs, and initiatives to increase access to specialized care for SCD patients across the UK. Additionally, the NHS can integrate sickle cell screening into routine healthcare services, especially for high-risk populations, such as those with a family history of the disease or from ethnic backgrounds where SCD is more prevalent. By implementing these measures, the NHS can effectively promote sickle cell awareness, improve access to care, and ensure adequate funding for services to support individuals living with the condition in the UK.

💡✨ The fight against sickle cell disease is progressing rapidly in the DRC! 🌍🙌 A crucial workshop was held to strengthen the diagnosis of this genetic disease. 🩺💉🧬 Together, we can offer a better future to those who need it. 💪🏽🔬 #fightagainstsicklecell #awareness #commitment #DRC 🇨🇩

If there is an effective treatment for a disease, it should be screened. If not, it doesn't make sense. Moreover, the genome sequencing should be kept safe until symptoms emerge and that´s when consulting the screening would be a valuable resource.

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

Someone donated $2 million after a family set up a gofund me to help their newborn twin survive a rare condition (drug price will shock you) Recently, newborn twins diagnosed with a rare condition required $4.2 million for a single dose of a potentially curable medication (for real) Spinal muscular atrophy (SMA) is a genetic disorder that, if left untreated, can lead to progressive loss of motor function and mortality. Estimates of SMA incidence in the United States range from 1 in 6,000 live births to 1 in 11,000 live births. Advances in genetic therapies have led to the development of 2 genetic therapies to treat SMA ✔️nusinersen (Spinraza) and ✔️onasemnogene abeparvovec (Zolgensma). The twins needed Zolgensma, which was priced at a staggering $2.1 million per dose in the U.S. This therapy is crucial; it must be administered early to prevent irreversible damage. Unfortunately, their insurer withdrew coverage just a day after their diagnosis, citing policy adjustments. We published a paper on gene therapies a few years back, revealing pricing inconsistencies across states. How do we reconcile high-cost medical innovation and the human right to health? Arguments are that taxpayer dollars fund the development of Zolgensma, so there is a need for ethical pricing. What do you think? Do you believe Pharma companies with substantial funding from the NIH and other federal agencies should be allowed to dictate the price of life-saving medications? The same drug is sold at half the price in Brazil. #PublicHealth #HealthcareEquity #GeneticTherapy #SMA #Pharmacoepidemiology #EthicsInHealthcare

More common than you might think: Cystic Fibrosis It affetcs over 40,000 Americans and over 100,000 people across the world, making it one of the most frequent genetic diseases. 👉 Learn more in our blog: https://nddmed.co/zrz75g #ndd #CysticFibrosis #EarlyDiagnosis #Spirometry

Sickle Cell Disease: What You Need To Know . Sickle cell disease (SCD) is a genetic disorder that affects the shape and function of red blood cells. Red blood cells carry oxygen to all parts of the body. People with SCD have red blood cells that are sickle-shaped or crescent-shaped, instead of round and flexible. These sickle cells can block the blood flow in small blood vessels, causing pain and tissue damage. . #promojoyz #joyforcustomersvalueforbusiness #complications #diseases #healthcare #preventions #sicklecelldisease #teatments . Continue reading at.... https://lnkd.in/gT7DFFrx .

Eirini Vamva et al. (2022) successfully developed and optimized a protocol of production of Measles virus pseudo-typed lentivirus (MV-LV) that permits high transduction efficiency in human primary B cells, a cell type known to be typically refractory to lentivirus transduction. The therapeutic applications of this protocol are numerous with auto-immune disorders, cancers, genetic disorders, and infection diseases as potential targets. Read the abstract: https://lnkd.in/es4guGhU Do you want to know more about MEGACD40L® protein? https://lnkd.in/edCtYa9d #ScientistsEnablingScientists #WhyDoYouResearch #cancerresearch #cell