SynaptixBio Ltd.’s Post

The power of large #Proteomic studies combined with #GWAS is undeniable- the future is #multiomics. For industry the ability to find causation, new drug targets and repurposing opportunities is massive. For anyone looking to better understand a plethora of diseases the #UKBiobank is an amazing resource

When merging GWAS with Olink proteomics, in large UKBiobank dataset: what appears is a wonderful Atlas of protein-trait associations from the blood proteome. Grand feat of these authors Deng et al. Pointing with confidence towards biomarkers for: disease risk and outcomes, stratification, therapeutic interventions, drug repositioning, target validation and, not least, to unravel the underlying biology.

"Immune monitoring and treatment in immune-mediated inflammatory diseases" Immune-mediated inflammatory diseases (IMIDs) can occur in a number of organ systems as a result of aberrant innate and adaptive immune responses to genetic and environmental triggers. Immune-monitoring technologies are used to detect disease-relevant immune biomarkers, either to enable diagnosis or monitor response to therapy. Immune monitoring is predominantly used in the research setting at present but routine clinical use is increasing. This poster explores the mechanisms underlying a number of common IMIDs, biomarkers relevant to the diagnosis or monitoring of IMIDs, and therapies used to treat these diseases. https://lnkd.in/dRcEuyJj #Immune_mediated_inflammatory_diseases #biomarkers #Immune_Monitoring #Autoimmune Diseases

Not so innocent after all! Functional studies showing the impact of E148Q in Familial Mediterranean Fever (#FMF) (and possibly other #autoinflammatory phenotypes). "(...) our data should be interpreted as indicating an increased risk of developing disease or increased severity of the disease. In some families, this increased risk can probably explain why FMF could segregate as an apparently dominant disease. Our data demonstrates that variants not considered as meaningful and nowadays discarded as benign could potentially modify the effect of other variants. This is again an evidence to not delay diagnosis and treatment of genetically heterozygous FMF patients." So much more to discover! #autoinflammatorydisease #familialmediterraneanfever #clinicalimmunology #internalmedicine https://lnkd.in/dBsFqq7e

Honoring Rare Disease Day: Shedding Light on the Unseen Struggles Every year, on the last day of February, the world comes together to observe Rare Disease Day—a day dedicated to raising awareness about rare diseases and the challenges faced by those affected. Rare diseases, often referred to as orphan diseases, collectively impact millions globally, yet each individual condition is so rare that it may only affect a handful of people or even just one person in a given population. These diseases encompass a wide spectrum of conditions, from genetic disorders to autoimmune diseases, each presenting its own set of unique challenges. Despite their rarity, the collective impact of rare diseases is significant, with approximately 300 million people worldwide living with a rare disease. For those living with rare diseases, every day can be a battle. Misdiagnosis, lack of treatment options, and limited access to specialized care are just a few of the hurdles they face. Furthermore, the burden extends beyond the patients themselves, affecting their families, caregivers, and communities. Rare Disease Day serves as a platform to amplify the voices of those affected, advocating for greater awareness, research, and support. It fosters collaboration among patients, healthcare professionals, researchers, and policymakers to address the unmet needs of the rare disease community. In recent years, significant strides have been made in advancing research and treatment for rare diseases. Breakthroughs in genomic sequencing, precision medicine, and gene therapy offer hope for many who previously had few options. However, there is still much work to be done to ensure equitable access to these innovations for all those in need. As we commemorate Rare Disease Day, let us not only celebrate the resilience of those living with rare diseases but also reaffirm our commitment to creating a world where every individual, regardless of the rarity of their condition, has access to timely diagnosis, effective treatment, and compassionate care. Together, we can shine a light on the unseen struggles of the rare disease community and work towards a future where no disease is too rare to matter. #rarediseases #stem #academia

Check out the most recent UDN publication! ⭐️Key takeaway: Biallelic #UQCRFS1 variants cause a rare mitochondrial complex III deficiency with lactic acidosis and scalp alopecia, with recent findings confirming complex III dysfunction and expanding the understanding of this and #GJA8-related cataracts. Undiagnosed Diseases Network (UDN) Undiagnosed Diseases Network Foundation (UDNF)

Nationwide study of patients with #diarrheal disease in Bangladesh studying #bacteria-phage #coevolution indicates that the phage-to-bacteria ratio may serve as a biomarker of disease severity in #cholera patients #microbiome #microbiota #diarrhea #phage #vibrio https://lnkd.in/ecTjGvN9 (behind paywall)

WHY AN ALL AUTOIMMUNE DISEASE REGISTRY? Established in 2016, the Autoimmune Registry is modeled on the National Cancer Registry, which provides data on incidence, demographics, and survival rates for all types of cancer in the United States. Before us, no such registry existed for autoimmune diseases, leaving patients uncertain about how their diseases would progress or their potential for developing comorbid autoimmune diseases or cancers. Our goal is to collect this data to better understand autoimmune diseases, the populations they affect, the risks of comorbidities, and their natural progression over time. In 2022, the National Academy of Sciences recently published a report on Enhancing NIH Research on Autoimmune Diseases, in which it identified these same gaps in data and research: Strong epidemiologic data of the U.S. incidence and prevalence of autoimmune diseases in the past 10–20 years are limited, and a lack of population-based data is of particular concern. . . . there are important gaps, including incidence and prevalence trends, comprehensive evaluations of the risk factors and the burden (including direct and indirect costs) of these diseases, the impact on different populations, the trajectory of these diseases from the period before disease manifests through the life course, and the impact of specific treatments and interventions. https://lnkd.in/g9ge26fX #BioSensics #AmylyxPharmaceutical #Rapamycin #indeelift #Creatinemonohydrate #Fisherscientific #merck #Arimoclomol #novartis #Octapharma #janssen #Abcuro #CSIPharmacy #MallinckrodtPharmaceuticals #Orphazyme #Alzehon #AdvancedBionutritionals® #mrpeterframpton #stephenmoore #AlexionPharma #AcceleronPharma #KPITherapeuticsInc #Nobelpharma #Orphazyme #Ultragenyx #myositisassociation #neuromuscular #romyonrare #catalyst #Romy

We are thrilled to announce positive results from Part 1 of our two-part Phase 2 ELIMINATE trial were published today in The Lancet Infectious Diseases. This Phase 2 trial is evaluating LBP-EC01, a CRISPR-Cas3 genetically engineered bacteriophage therapy, designed to treat patients with urinary tract infections (#UTIs) caused by antimicrobial-resistant (#AMR) and multi-drug-resistant (#MDR) E. coli.   Additionally, we are excited to share that dosing has begun in the randomized, controlled, and blinded Part 2 portion of this Phase 2 study. This clinical trial is supported by the Biomedical Advanced Research and Development Authority (BARDA).   With an estimated 150 million people worldwide affected by UTIs annually, the CDC and the World Health Organization have identified antibiotic-resistant E. coli as an urgent and serious public health threat requiring the development of new treatments.   Stay tuned for more updates as we continue our mission to combat these challenging infections! https://lnkd.in/eZDuCx9Y

The “Atlas of the Plasma #Proteome in Health and Disease” is a new step that showcases the power of integrating #Genomics, #Proteomics, #Microbiome, and #Metabolomics with #MachineLearning to uncover detailed disease profiles. This #Panomics approach is a game-changer for #PrecisionMedicine, paving the way for truly #Personalized #Healthcare. #CellMagazine