Allelica, Inc’s Post

#Adrenoleukodystrophy #ALD #Genomics Here is an interesting paper currently being researched on ALD (Adrenoleukodystrophy) disease: The study titled "Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy" investigates the impact of ABCD1 deficiency on demyelination and neurological damage using a cuprizone mouse model. It found that while ABCD1 deficiency accelerates oligodendrocyte loss and axonal damage, it does not significantly affect the microglial or astrocyte function in myelin clearance or remyelination. This study highlights the role of ABCD1 in exacerbating demyelination but also shows that remyelination potential remains intact despite the genetic deficiency. Mouse model : CPZ For a basic introduction to ALD (Adrenoleukodystrophy), please check out the following video link! https://lnkd.in/gAJ7nJNC https://lnkd.in/gMgg56e7

Eye's microbiome in dry eye disease. A nice publication on the pathogeny using metagenomics and tear proteomics. As for other microbiomes and unsurprisingly, compositional and functional features of the ocular surface microbiome and the tear proteome are altered in patients with dry eye disease. Probably, a metaproteomic approach would have advantageously supplemented and clarified the information at the level of mechanisms of action. https://lnkd.in/dGeYyVHK

Here is a new preprint from a collaborative study on macrophages in ovarian aging, led by the wonderful Zijing Zhang. We identified a new macrophage population specifically induced in the aged ovary and revealed the potential link between the myeloid cells and aging-associated changes. https://lnkd.in/epe5Fi6k

📃Scientific paper: Short structural variants as informative genetic markers for ALS disease risk and progression Abstract: There is considerable variability in disease progression for patients with amyotrophic lateral sclerosis (ALS) including the age of disease onset, site of disease onset, and survival time. There is growing evidence that short structural variations (SSVs) residing in frequently overlooked genomic regions can contribute to complex disease mechanisms and can explain, in part, the phenotypic variability in ALS patients. Here, we discuss SSVs recently characterized by our laboratory and how these discoveries integrate into the current literature on ALS, particularly in the context of application to future clinical trials. These markers may help to identify and differentiate patients for clinical trials that have a similar ALS disease mechanism(s), thereby reducing the impact of participant heterogeneity. As evidence accumulates for the genetic markers discovered in SQSTM1 , SCAF4 , and STMN2 , we hope to improve the outcomes of future ALS clinical trials. Continued on ES/IODE ➡️ https://etcse.fr/pMenK ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you. #amyotrophiclateralsclerosis #als #charcot

An exciting new study on inter-organ spread of senescence!

Research reveals that genetic makeup significantly influences sepsis response, suggesting treatments could be based on immune response rather than symptoms. Conducted by the Wellcome Sanger Institute and University of Oxford, the study identifies genetic regulators and cell types involved in sepsis. This paves the way for personalised therapies and rapid tests to improve treatment outcomes. Learn more: https://iii.hm/1r18 #PersonalisedMedicine #Genomics #Sepsis

🌟 Upcoming Event: Rafa's Moonshot to Speak at the STXBP1 Summit 🌟 We’re thrilled to announce that Rafa's Moonshot will be speaking at the STXBP1 Summit in July. Hosted by STXBP1 Foundation, the STXBP1 Summit is a critical event that brings together researchers, clinicians, and advocates dedicated to advancing our understanding and treatment of STXBP1 disorders. Sagi Gidali and Dr. Ella Gordon will talk at the researchers' round table about 'moonshot thinking', researcher collaboration, and Rafa's Moonshot's strategic plan to accelerate treatment development. Their insights will contribute to the broader conversation on innovative approaches for STXBP1 research. Learn more about the summit here: https://lnkd.in/gysiX9dX Stay tuned for more updates as we continue to advance research in rare genetic diseases. #RafasMoonshot #STXBP1 #RareDiseaseResearch #STXBP1Summit #InnovativeMedicine #DrugDevelopment

Check out this fantastic article written by Nostos Genomics to highlight the SGS Foundation's work and all the work being done to develop and better understand Schinzel-Giedion Syndrome. https://lnkd.in/e2yCcASi

Take a look at the observational, genetic and mechanistic evidence that has put Lp(a) in the spotlight as a heart disease risk factor – with Professor John Chapman on Lpa Forum >> https://lnkd.in/e5SD_PZH #Lpa #lipoproteina #heartdisease #CVD #ASCVD #lipidologists #cardiologists

The COL1A1 and COL1A2 genes, responsible for encoding type I collagen, play a vital role in maintaining connective tissue strength. Variants in these genes are the primary cause of Osteogenesis Imperfecta (OI), a condition characterized by fragile bones, frequent fractures, and other connective tissue-related complications. Osteogenesis Imperfecta is a stark reminder of the importance of early and accurate genetic diagnoses. In a blog we shared earlier, we highlighted our colleague’s remarkable journey in her fight to secure the correct diagnosis for OI. Her story reflects the struggles many face with rare diseases and the critical role genetic insights play in providing answers. At Genomenon, we are proud to support the rare disease community through curated genetic data, helping clinicians and researchers uncover the root causes of complex conditions like OI. By connecting patients’ stories to the science behind the diagnosis, we strive to bring hope and clarity to those navigating the diagnostic journey. 🔗 Revisit Jessica’s story here: https://lnkd.in/gMHkTy6v #OsteogenesisImperfecta #COL1A1 #COL1A2 #GenomicIntelligence #Genomics #Genetics #MastermindGIP