Friedrich Thienemann’s Post

Quite insightful|New targets to accelerate development of new antimalarial treatments.

📖In a recently published review, Sudeshi M. Abedeera and co-authors survey the cellular proteins currently known to bind the 5′-UTR and influence viral gene expression with emphasis on comparing proteins’ functions and localizations pre- and post-(EV-A71) infection. Find out more about "The Repurposing of Cellular Proteins during Enterovirus A71 Infection" below👇: https://lnkd.in/d6p4zYev

Antimicrobial resistance (AMR) emerges through various mechanisms within patients, yet understanding how these differ across infections is limited. Advances in pathogen genome sequencing are shedding light on four key processes: spontaneous resistance mutations, horizontal gene transfer, selection of pre-existing resistance, and immigration of resistant lineages. These mechanisms vary by bacterial species, infection site, and host niche, influencing treatment outcomes. Embedding ecological and evolutionary analysis in clinical trials can reveal how these factors shape AMR development. A deeper understanding of these dynamics will drive more personalized, effective antimicrobial therapies for patients.

Pompe disease, also referred to as glycogen storage disease type II, is a rare neuromuscular disorder caused by mutations in the GAA gene. This genetic defect results in deficiency of the enzyme alpha-glucosidase, leading to accumulation of glycogen in various tissues, particularly muscles. There are different forms of Pompe disease such as infantile-onset to late-onset, both of which present their own symptoms. Individuals diagnosed with Pompe disease may experience progressive muscle weakness, an enlarged heart, and other symptoms that can impact mobility and overall quality of life. At TRiNDS we specialize in rare neuromuscular diseases such as Pompe disease, working tirelessly to advance research and improve outcomes to patients and their families. Learn more about the vital work being done by our team at https://lnkd.in/dqejNGKk #PompeDisease #ClinicalResearchOrganization #ClinicalTrials #DuchenneAwareness #MuscularDystrophy #MuscularDystrophyResearch #RareDiseaseResearch #ResearchForACure #PatientDrivenResearch

We all carry an APOL1 gene, and the science is clear that those with two variants within this gene have a significantly increased risk of early kidney failure. The people most impacted have one commonality—recent ancestry from the West African region, where these same variants evolved to offer protection from an endemic neglected tropical disease known as HAT (human African trypanosomiasis, coincidentally part of my portfolio when I was at the Bill and Melinda Gates Foundation). Given this ancestral linkage, the Black community in the US experiences the highest prevalence and incidence of APOL1 kidney disease. Hope is on the horizon as several organizations and companies are actively developing potential treatments, but ongoing research studies and clinical trials continue to face significant challenges with enrollment and sustained participation. Join the community on Tuesday, September 24 from 12:00 to 1:00 p.m. ET for the third webinar on KHI's APOL1 KD roadmap. At this final webinar and discussion, three thought leaders share their experiences and tips on how care teams can address sources of mistrust to empower and motivate patients as they consider participating in clinical research. Bring your own experiences, tips, and questions for the speakers and other participants! Register today to secure your spot and join this important and timely discussion. https://lnkd.in/eN-mWTEA

🔬 Groundbreaking Discovery: Gene Linked to Severity of Respiratory Viral Infections 🧬 In a pioneering study, scientists at the Peter Doherty Institute for Infection and Immunity have identified the OLAH gene, a key determinant in the severity of respiratory viral infections. Published in Cell, the research demonstrates that elevated expression levels of OLAH correlate strongly with severe outcomes, including death, in patients with viruses like influenza and COVID-19. This discovery offers a promising new avenue for predicting disease severity and tailoring personalized treatments, potentially transforming how we manage respiratory infections globally. #HealthcareInnovation #Genetics #ViralInfections #PersonalizedMedicine Read more: https://lnkd.in/eQ3fNfc2

Article published in BMJ case reports Our case report, entitled Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) published in BMJ case reports. It is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of a genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome. To cite: Sathiyaseelan SL, Krishna K, Agarwal D, Oswal J. BMJ Case Rep 2024;17:e260146. doi:10.1136/bcr-2024- 260146 https://lnkd.in/g4aWNdv2

Looking forward to seeing you in Boston José M Carballido! See more information on the 7th ASIT Summit here: https://ter.li/iaozo1 Join Jose and 100+ immune tolerance enthusiasts, decision makers, and innovators at the 7th Antigen-Specific Immune Tolerance Summit to: Identify antigens driving autoimmune diseases & biomarkers of antigen-specific immune tolerance, evaluate tissue-specific tolerogenic approaches & novel delivery systems, & advance durable therapeutics into proof-of-concept trials and beyond 2024 Event Partners include: Novoviah Pharmaceuticals, Barinthus Biotherapeutics, Nykode Therapeutics, Beacon See the full event guide here: https://ter.li/iaozo1 #ASIT #ASIT2024 #immunetolerance #tolerance #tolerizing #antigenspecific #antigen #celiacdisease #type1diabetes #multiplesclerosis #rheumatoidarthritis #drugdevelopment #lnp #mrna #tregs

A systematic review (DOI: 10.1002/ijd3.1182) examines autophagy-related gene polymorphisms and their impact on HBV-associated hepatocellular carcinoma (HCC). Of 422 studies, polymorphisms like rs2241880 in ATG16L1 and rs77859116, rs510432, and rs548234 in ATG5 were significant. These genetic variations were notably associated with an elevated risk of HBV infection, which could lead to HCC. This underscores the genetic underpinnings that may influence HBV infection outcomes and HCC development. #LiverCancer #GeneticRiskFactors #AutophagyGenes #HBVResearch #MedicalGenomics

#CeliacDiseaseResearch tackles disease management from all angles: immune response modulation, microbiome manipulations, and precision medicine approaches for those with celiac-promoting HLA gene variants. Enzymatic approaches, like our primary asset #latiglutenase, break down gluten into harmless fragments, aiding gluten digestion and reducing immune reactions for all people living with #CeliacDisease. Learn more about the state of celiac disease research, diagnostics, and progress towards treatments: https://bit.ly/3Wbyjq3