Henrik Tommerup’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

The #proteogenomics revolution marches on to the beat of it's own drum! Fresh off the press in Cell Press; a reanalysis of large scale #plasma #proteomics and #GWAS data using #UKBB samples providing the definitive atlas of the blood proteome in relation to common complex diseases with endless potential to develop new #biomarkers and #therapies improving #patient #outcomes. #patientsarewaiting #sciencethatinspires #UKBB #proteomics #genomics #olink #PEA https://lnkd.in/eP_nrvb3

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

Benefits of fasting beyond weight loss https://lnkd.in/gRgXRwAf #fasting #weightloss #proteomics #genomics #rheumatoidarthritis #heartdisease

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)

How do we get to actionable biomarkers of disease? we explore, define, develop and validate. An excellent resource on exploratory proteomics and human disease. https://lnkd.in/ggAJhrpg the great thing is the group also developed a web-based tool to mine the data. https://lnkd.in/gp5WBxDD #proteomics #humandisease #informatics #biomarkeeexploration

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

ANNOUNCEMENT: Over the next few weeks we will be posting on a range of topics around rare diseases - their causes, nature, impacts and treatments. The first post (below) is about the number and nature of rare diseases. The full list of topics we will post about is:   - Rare diseases – not a numbers game - What exactly is TUBB4A leukodystrophy? - What is gene silencing – and how does an antisense oligonucleotide work? - The nature and impacts of TUBB4A leukodystrophies - What are orphan drugs and what rules apply to them? - How are clinical trials organised and run? Rare Diseases – not a numbers game*   TUBB4A leukodystrophy is just one of a large and increasing number of recognised rare diseases.   Estimates vary, but the general consensus is that there are somewhere between 6,000 and 10,000 worldwide.   Definitions vary too:   United States: 1 in less than 200,000 people European Union (including UK): 1 in less than 2,000 people.  Japan: 1 per 2,500 people. World Health Organization: 65 per 100,000 people.    However they are defined and counted, we can all agree they affect a small number of people - but because there are so many, today approximately 300 million people worldwide live with a rare disease.   What are the defining characteristics of rare diseases?   Around 80% of have a genetic cause, and almost 70% of those develop symptoms in childhood.   Sadly, given their generally life-limiting impact, only about 5% have approved treatments; equally sad is that the average time for an accurate diagnosis is 4-8 years.   Tragically, 30% of children with a rare disease die before age 5 years.   This is why we do what we do. *The figures quoted are from several sources: WHO/Orphanet, NORD and The Lancet, though multiple sources use figures in that range.

This study supports the development of predictive #bacteriophage (phage) therapy: the concept of phage #cocktail selection to treat a bacterial infection based on #machinelearning (ML) models. For this purpose, ML models were trained on thousands of measured interactions between a panel of phage and sequenced #bacterial isolates. The concept was applied to Escherichia coli associated with urinary tract #infections. E. coli exhibit extensive genome-level variation due to horizontal #gene transfer via phage and #plasmids. Associated with this, phage selection for E. coli is difficult as individual isolates can exhibit considerable variation in phage susceptibility due to differences in factors important to phage infection including phage receptor profiles and #resistance mechanisms. The activity of 31 phage was measured on 314 isolates with growth curves in artificial urine. Random Forest models were built for each phage from bacterial genome features, and the more generalist phage, acting on over 20% of the bacterial population, exhibited F1 scores of >0.6 and could be used to predict phage cocktails effective against previously untested strains. The study demonstrates the potential of predictive ML models which integrate bacterial genomics with phage activity datasets allowing their use on data derived from direct #sequencing of #clinical #samples to inform rapid and effective phage #therapy. https://lnkd.in/g27dEQ4R

Rare Disease Day - February 29, 2024 It’s a day to raise awareness of the over 7,000 rare diseases that impact over 300 million people globally! --> 300 million people worldwide have rare diseases (The US has 339 million people) --> 1 in 10 people are affected by a rare disease --> 1 in 2 rare diseases are not supported by research or a foundation --> 1 in 2 people affected by rare disease are children --> 3 in 10 people suffer from a rare disease globally Source: https://lnkd.in/e2nh5pd #ShowYourStripes, #RareDiseaseDay #ugenome, #ugenomeai, #ugenomebiotech, #bioinformatics, #biotech, #genetics, #science, #dna, #research, #genomics, #medicine, #immunology, #drugdiscovery, #datascience, #lifesciences, #biostatistics, #health, #pharma, #genomeannotation, #pharmacogenomics, #pharmacogenetics, #genomicmedicine, #sequencing, #dataanalysis, #machinelearning, #precisionmedicine, #metagenomics,