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Hi friends A nice case has been diagnosed through artificial intelligence in protein structure. A case of inhalational anthrax with structural proteins associated with ANTXR2 , the pathway is related to MAPK ERak. The affiliated tissue is converted into split variant along with transcript factor 32TFS which helps in binding the domain with promoter enhancer gene. Through this newly launched technology the following can be diagnosed Parkinson disorder cutaneous anthrax lymadadenitis respiratory failure disorders vasculitis disorders hypertrophy of gingival diseases #anthrax #exposure #bronchoscopy #videoassistedtechniques #artificialintelligenceinhealthcare #rapidandpromot #diagnosis #lesserrors #acccuracy #earlyintervention

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. #RareDisease #Genetics In this study, they have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy. PSMD11 loss-of-function variants caused early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity in 10 unrelated children. Their findings demonstrate that the cognitive impairment observed in these individuals could be recapitulated in Drosophila melanogaster with depletion of the PMSD11 ortholog Rpn6, which compromised reversal learning. https://lnkd.in/efjCWtXR

29 February is #RareDiseaseDay, an opportunity to raise awareness of the urgent needs of over 300 million people globally living with a rare disease. Today, we would like to shine a spotlight on steroid resistant nephrotic syndrome (#SRNS), a rare, therapy-resistant form of nephrotic syndrome, which affects the kidneys’ ability to perform critical filtering functions. Children with SRNS do not respond to steroids, and will likely need dialysis and, ultimately, a kidney transplant, with a serious impact on their quality of life and significant long-term complications. At least a third of children with SRNS have an inherited, or genetic, cause of their disease. There is an urgent need for effective new treatments, but recent data suggest that the podocyte, a specialised cell type that is implicated in many #KidneyDiseases, may be the ideal cell type to target with AAV gene therapy, offering the potential for a long-term correction to the genetic causes of kidney diseases such as SRNS. If you’d like to hear more about what Purespring does to support people with kidney diseases such as SRNS, please get in touch. #RareDiseaseDay #OrphanDisease #LightUpForRare #RareDiseaseDay2024 #ShareYourColours

#alcohol #lungdisease https://lnkd.in/gYNCPUsX Alcohol use disorder (AUD) is a significant risk factor for severe acute #respiratory #distress syndrome. We found that AUD causes a phenotypic shift in gene expression in human bronchial epithelial cells, enhancing expression of epidermal genes. AUD cells infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) had higher levels of proinflammatory cytokine secretion and barrier dysfunction not present in infected non-AUD cells, consistent with increased early COVID-19 severity due to AUD.

Braving the invisible currents: Navigating life with haemophilia. Haemophilia is a genetic disorder that impairs the body's ability to control blood clotting, leading to prolonged bleeding. There are two main types: Hemophilia A (caused by a deficiency of clotting factor VIII) and Hemophilia B (caused by a deficiency of clotting factor IX). Causes: It's caused by mutations in genes that provide instructions for making clotting factors. Symptoms: Prolonged bleeding from cut or injury, easy bruising, joint pain and bleeding, and in severe cases, spontaneous bleeding. Prevention: Since it's genetic, prevention strategies focus on genetic counseling and prenatal testing for carriers. Treatment: Replacement therapy with clotting factors, medications to stimulate clotting factor production, and in some cases, gene therapy. Physical therapy can help manage joint pain and complications. STAY HEALTHY❤️ -------------------------------------------------------------------- Light Salubrity International Realize,Lead,Thrive #Haemophilia #LightSalubrityInternational

Are you living with SCD? Do you have a relative, or friend living with SCD? Current Research in the field is greatly promising, not only in the development of new therapies but offering hope for CURES that can be made available to many more people. Learn more about gene therapies and other sickle cell disease treatments: https://bit.ly/3sI8D9t #Geneandcelltherapies #SCDcures #Blooddisorders

Don’t stop at BRAF V600E.. When DNA sequencing for BRAF/MAP2K1/KRAS/NRAS mutations is negative in the workup of #histiocytoses.. start thinking about gene fusions (actually preferable to start thinking about fusions from the start!)... Below is a KIF5B::ALK fusion from targeted RNA-sequencing making a diagnosis of this entity - https://lnkd.in/g6sKjqEP Clinicopathological features of this rare disease (ALK-positive histiocytosis) -         Presentation any time from infant to adult -         Can be single system (most often CNS) or multisystem involvement (CNS, bone, lungs..) -         Bone lesions can look like Erdheim-Chester disease -         Beware – ALK IHC may show dot-like positivity that may be interpreted as negative.. - Almost always ALKex20 fused to KIF5Bex24 MOST IMPORTANTLY..  like almost all histiocytoses… targeted inhibition of molecular driver is remarkably effective and the therapy of choice. Multiple ALK inhibitors have been used in this entity (#crizotinib, #alectinib, #lorlatinib, #brigatinib, #ceritinib..) - 100% response rate (!) in the above linked work. #WilsonCentreforBloodCancerGenomics #PrecisionDiagnostics #AllHaemRNA #FusionPanels #hemepath #NGS 

Great Relief for ALS Patients! New treatment for rare motor neurone disease recommended for approval EMA has recommended granting a marketing authorisation in the European Union for a new therapy for the treatment of adult patients with amyotrophic lateral sclerosis (ALS), a rare and often fatal disease that causes muscles to become weak and leads to paralysis. #Qalsody (#tofersen) is indicated for the treatment of adults with #ALS, who have a mutation in the superoxide dismutase 1 (SOD1) gene. #NeuroMotorDisease #RaReDisease #EMA #amyotrophiclateralsclerosis #Biogen

🌟 A new gene therapy could save the lives of children with a severe inherited disease. 🏥 Skåne University Hospital takes the lead as the Nordic center for treating a rare genetic disease, MLD, which primarily affects young children. Historically associated with significant suffering and shortened lifespans, there is now a life-saving treatment, marking a turning point for those affected. This achievement is a direct result of Region Skåne's strategic investment in ATMPs (advanced therapy medicinal products), showcasing our dedication to innovative solutions with the potential to cure severe diseases. In the autumn of 2023, a significant milestone was reached as the first child underwent this transformative treatment at Skåne University Hospital. This is not just a medical breakthrough; it's a testament to our commitment to providing hope and healing to those facing challenging health conditions. #MedicalBreakthrough #GeneTherapy #SkaneUniversityHospital #InnovationInHealthcare #HopeAndHealing 🌟🏥 Photo: Erik Eklund, Senior Consultant in paediatrics.

Missed Dr. Fred Askari’s 2023 conference presentation recapping the advances made for Wilson disease in 2023? You can watch Dr. Askari’s presentation on WDA’s YouTube channel at @WilsonDiseaseAssociation. “2023 Year in review for Wilson disease” 2023 has been an 🔆 eventful year for the Wilson disease community. The first patients received gene therapy 💉 and a stable form of trientine 💊 was launched plus many other advances. Dr. Askari discusses these and other developments ⚕️and describe emerging therapies and diagnostic tools. https://lnkd.in/gtdjzaW2 #WilsonDiseaseAssociation #Wilsondisease #Raredisease