NHS Hospitals Partner for Joint Replacement Research

Culture was negative. The diagnosis was wrong. Then wrong again. A published case report in Pathogens (2024) describes a patient with pleural empyema who was misdiagnosed with tuberculosis, then nocardiosis- based on histopathologic findings, elevated adenosine deaminase, and Gram stain morphology. Three conventional methods. Three incorrect answers. Next-generation sequencing (NGS) identified the actual organism: Pseudopropionibacterium propionicum. A slow-growing anaerobe that clinically mimics TB and Nocardia but requires a distinct, prolonged antibiotic course. Conventional culture of the same specimen remained negative after four weeks of incubation. Earlier identification could have changed the treatment course. This is the diagnostic problem molecular sequencing was built to solve. Babar S, Liu E, Kaur S, Hussain J, Danaher PJ, Anstead GM. Pathogens. 2024;13(2):165. doi: 10.3390/pathogens13020165 #NGS #InfectiousDisease #ClinicalMicrobiology #MolecularDiagnostics #CultureNegative Read the full case: https://lnkd.in/gFxpXaJs

I’m pleased to share my latest contribution to the Wiley Online Library: "The Genetics of Norovirus: Understanding Its Genome and Genogroups" featured in the book Emerging Infectious Disease. ❤️ 🧬 Norovirus is much more than a common stomach bug; it is a master of rapid evolution. Understanding its genomic "engine" is critical for the future of global health. - The Blueprint: The virus uses three Open Reading Frames (ORFs). While ORF1 handles replication, ORF2 and ORF3 build the protective capsid (VP1/VP2) that shields the virus. - The Challenge: High mutation rates and frequent recombination create a "moving target." This genetic diversity is the primary reason why developing a universal vaccine remains so difficult. - Precision Tracking: The shift toward Next-Generation Sequencing (NGS) is a game-changer, allowing us to track how human-infecting genogroups (GI and GII) evolve and spread in real-time. Mapping these genomic shifts is the only way to stay ahead of future outbreaks and move toward effective antivirals. Full Chapter: 🔗 https://lnkd.in/dw6qhhVW

🧬 April 15, World Pompe Disease Awareness Day highlights the importance of awareness in rare diseases. 🔬 Pompe disease is a rare genetic disorder caused by a deficiency of the GAA enzyme, leading to glycogen accumulation in cells and primarily affecting the muscles. It follows an autosomal recessive inheritance pattern, meaning carriers may unknowingly pass it on. With genetic testing and family screening, Pompe disease can be definitively diagnosed, and at-risk individuals can be identified early. At Gene2Info, we accelerate genetic diagnosis through AI-powered, end-to-end solutions, supporting the early identification and evaluation of at-risk individuals.Let’s take a step together today and raise awareness of Pompe disease, helping more people understand the importance of genetic diagnosis for a healthier future. 🤍 #POMPE #rarediseases

On World Rare Disease Day, Dr. Ambrin Fatima lays out a reality we can’t ignore. Pakistan carries one of the highest burdens of rare genetic disorders, yet the system to deal with them barely exists. Microcephaly occurs at nearly 20 times the global rate. The country has just two trained clinical geneticists for over 230 million people. There is no national newborn screening program. Genetic testing is still treated as a luxury. At the same time, high rates of consanguinity significantly increase the risk of inherited conditions, while life-saving treatments can cost upwards of $2 million per patient. For most families, that is simply not an option. The path forward is clear. Prevention, early diagnosis, and access. Pakistan needs national screening programs, expanded genetic counseling, and inclusion in global clinical trials. The science exists. What’s missing is the system to support it. #WorldRareDiseaseDay #RareDiseases #Genetics #PublicHealth #Pakistan #Healthcare

On World Rare Disease Day, Dr. Ambrin Fatima lays out a reality we can’t ignore. Pakistan carries one of the highest burdens of rare genetic disorders, yet the system to deal with them barely exists. Microcephaly occurs at nearly 20 times the global rate. The country has just two trained clinical geneticists for over 230 million people. There is no national newborn screening programme. Genetic testing is still treated as a luxury. At the same time, high rates of consanguinity significantly increase the risk of inherited conditions, while life-saving treatments can cost upwards of $2 million per patient. For most families, that is simply not an option. The path forward is clear. Prevention, early diagnosis, and access. Pakistan needs national screening programmes, expanded genetic counseling, and inclusion in global clinical trials. The science exists. What’s missing is the system to support it. #WorldRareDiseaseDay #RareDiseases #Genetics #PublicHealth #Pakistan #Healthcare #Prevention #GeneticCounseling

A new study’s findings open a path for treating toxoplasmosis safely. By targeting TgAP2X-7, novel treatments can stop parasite growth without harming humans.

Lp(a) levels are largely genetically determined and may be inherited from one or both parents. In patients with a family history of premature cardiovascular disease or known elevated Lp(a), awareness of inherited risk may support earlier identification and risk stratification. Explore our Discussion Guide to support patient conversations: https://bit.ly/4rHtgfa #Lp(a) #CardiovascularRisk #PatientEducation #MendedHeartsEurope

Did you know that more than 300 million people worldwide, including three million Canadians live with a rare disease? At UHN, genetic testing is helping clinicians identify disease‑causing variants, improve diagnostic accuracy, and guide decisions about monitoring, prevention and treatment. By uncovering the underlying genetic causes of complex conditions, genomic testing can also shorten long diagnostic journeys for patients and families. Read more: https://bit.ly/4tQA3nR

What if autoimmune diseases could be treated at their source, not just managed? In this video, Dr. Panteli Theocharous discusses how new approaches, from CAR-T therapies to circular RNA technologies, are creating more targeted, durable treatments by addressing the underlying immune dysfunction. Watch it below.

#ESCMIDGlobal Day 3 — SC Malattie Infettive doppiamente presente. Within the poster session “Immune compromise & transplant ID,” with the abstract “Performance of the BioFire FilmArray Pneumonia Panel Plus compared to standard microbiology in #lungtransplant donor and recipient samples: a prospective cohort study.” This study addresses a critical diagnostic challenge in transplant infectious diseases: the need for rapid, accurate pathogen identification in highly vulnerable patients. Comparing advanced molecular diagnostics with conventional microbiology is key to understanding how we can shorten time to diagnosis, optimize antimicrobial therapy, and improve clinical outcomes in both donors and recipients. Alessandra Bandera Ospedale Policlinico di Milano Università degli Studi di Milano #ESCMIDGlobal2026 #TransplantID #RapidDiagnostics #AntimicrobialStewardship #InfectiousDiseases