ClinGen Resource’s Post

Such important work and the foundation for accurate variant classification.

In chronic inflammatory bowel diseases, such as ulcerative colitis and Crohn’s disease, a robust communication network involving macrophages and inflammatory fibroblasts within inflamed intestinal tissues is unveiled by single-cell RNA-sequencing and spatial transcriptomics. This comprehensive approach has highlighted the potential significance of myeloid and stromal cell subsets in understanding the diverse symptom presentation and treatment responses. A great study by Alba Garrido-Trigo, et al. on Nature Genetics “Macrophage and neutrophil heterogeneity at single-cell spatial resolution in human inflammatory bowel disease”. #crohnsdisease #ulcerativecolitis #scRNA #BioTuring Read the publication here: https://lnkd.in/gdW6mwQ9 Explore the dataset on Talk2Data now: https://lnkd.in/gqGiZ8kA

Genetics and Aortic Dissections Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these aortic diseases. In the case of thoracic aortic aneurysm and dissections (thoracic aortic disease), genetic data can be used to identify some at-risk individuals and dictate management of the associated vascular disease. To read more just click on the link below. https://lnkd.in/e44sFUtB #aortaed #aorticdissection #aortichope #ThinkAorta #genetics #ThinkAortaThinkFamily

I am pleased to announce that in collaboration with Dawn Laney and Jingjing Yang at the Emory University School of Medicine – Department of Human Genetics, our work developing a risk assessment screening tool for Fabry disease, the FDrisk, has been published online in The Journal of Rare Diseases. https://lnkd.in/eSzhkziy Lobel, C.J., Laney, D.A., Yang, J. et al. FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data. J Rare Dis 3, 2 (2024). Fabry disease is a rare genetic disease affecting many organs in the body. Like most rare diseases, there is a lack of awareness of Fabry disease which often causes long delays in diagnosis and treatment. We developed the FDrisk to address the critical need for correct and earlier diagnosis and treatment. #fabrydisease 

Scientists have developed an innovative ATM method to create a representation of longitudinal medical records, using age-dependent comorbidity profiles to identify distinct biological disease subtypes. This research extends previous work on genetic subtype identification and low-rank modeling of diseases, highlighting three key contributions. Firstly, they integrated age at diagnosis data into the representation, demonstrating its significant value in understanding comorbidity patterns. Secondly, they identified 52 diseases with diverse comorbidity profiles to define unique disease subtypes, showing consistency across different datasets. Lastly, they validated these disease subtypes using genetic data, confirming their relevance in understanding disease etiology. This study underscores the importance of context, such as age, in genetic risk assessment and calls for further exploration into other contextual factors. Despite some limitations, the ATM approach proves to be a valuable tool for uncovering age-related comorbidity profiles and disease subtypes. #MedicalResearch #GeneticsResearch #Alpine #DNA #Research #AlpineInstitute #HealthResearch

New Call for Papers! This special issue of Human Molecular Genetics will highlight recent advances in the field of pathogen infection, the latest findings on the molecular mechanisms underlying immune disorders, inflammatory diseases, viral susceptibility, and more. Interested in publishing your research? Find out more about the special issue: https://oxford.ly/4be43B6

Happy #NationalDNADay from all of us at Passage Bio! 🧬 Today we are celebrating all the advancements made in the #geneticmedicine space that have helped pave the way for our vision of delivering life-transforming medicines that can permanently redefine the course of devastating #neurodegenerative diseases. Learn more about our work in genetic medicine: https://loom.ly/hkMUF98

Delighted to share my first-authorship here in our latest review, "Premature aging in genetic diseases: what conclusions can be drawn for physiological aging," from the group of Selma Osmanagic-Myers at the Medical University of Vienna. 📖 Exciting times ahead! #Progeria #Genetics #Aging #frontiers

Thalassemia could be easily ignored in the Neonatal Screening Test. 🧬🔍 Our VP, Dr. Peng Zhiyu, presented at the 2nd International Azerbaijan Laboratory Medicine Congress & Lab Expo (AZLTK 2024), suggested that #Thalassemia is preventable. For couples from areas with high Thalassemia prevalence, the VISTA™ Carrier Screening test is a powerful tool to identify genetic information that may be passed on to newborns. Additionally, the NOVA™ Newborn Genetic Screening can determine a baby's risk for 246 genes associated with 112 genetic diseases. By taking a proactive approach, hemoglobinopathies and other potential risks can be prevented and controlled early on. For Healthier, Happier Babies! 🌟👶💙 Read more: https://bit.ly/4eBogDf #BGIGenomics #BGIGeneTest #Insight #DaysMatter

Genomes2People director Dr. Robert Green MD, MPH, shared findings from the #BabySeq Project with CBS News (Boston) on #RareDiseaseDay, emphasizing the importance of screening newborn babies to detect rare conditions. A family who participated in the BabySeq Project shared their success story of genomic sequencing at birth and how it impacted them positively. Watch the full interview here: https://lnkd.in/guUBF59J #reserach #healthresearch #science #genetics #dna #genes #genetictesting #geneticcounseling #screening #geneticscreening #newbornscreening #geneticresearch #translationalresearch #genome #genomics #preventivegenomics #translationalgenomics #genomicresearch #newbornsequencing #genomesequencing #genomicsequencing #newborn #newbornhealth #newborncare #childhealth #health #precisionhealth #healthcare #childhealthcare #raredisease #raredisorders #geneticdisorders #primarycare #evidencebased #healthoutcomes #primaryhealthcare #medicine #precisionmedicine #genomicmedicine #healthcommunication #healthnews #sciencecommunication #sciencecommunity #scicomm