Omid S. Alavijeh
@OAlavijeh
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Currently: @NIHRresearch Clinical Lecturer @RenalUCL Recent: @The_MRC Doctoral and @AstraZeneca fellow Academic Renal Trainee #bioinformatics #genomics
@renalgenomics
Joined June 2019
The primary piece from my PhD on cystic kidney disease is out today in @jclinicalinvest! . The full thread discussing the paper is linked in the tweet below. As always many thanks to @The_MRC and @GenomicsEngland, @RenalGenomics and many more!
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RT @RenalGenomics: Congratulations to @OAlavijeh for a wonderful presentation and his Raine award #UKKW25!
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RT @FutureHealthJ: #Medicine2050. From innovative dialysis solutions to xenotransplantation and AI-powered diagnostics, we explore the poss….
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RT @PKDCharity: 📢The PKD Partnership—a collaboration between the PKD Charity and Kidney Research UK—seeks leaders for PKD research subgroup….
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RT @FinnGen_FI: Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This f….
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RT @jclinicalinvest: This comprehensive analysis of variants in cystic kidney disease leveraged 100,000 genomes! .
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As always thanks to @RenalGenomics @drmelaniechan @GTDoctor @DannyGale_1 and others for your support, @The_MRC for funding the work, and to the patients and families who have taken part in #100GKP @GenomicsEngland. Link to the pre-print below:.
medrxiv.org
Background Unexplained kidney failure (uKF) affects 15% of individuals requiring kidney replacement therapy. Absence of a diagnosis creates uncertainty around recurrence after transplantation,...
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In conclusion, we show that high-risk APOL1 variants and **HLA-DQB1*03:19** may contribute to uKF in people of African ancestry. Time to rethink genetic testing strategies and embrace genomics in clinical nephrology! 🧬🧠#NephTwitter #TranslationalResearch.
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Our study emphasizes the importance of genomics in uKF, especially for patients of African ancestry. It also suggests that combining APOL1 and PRS data could provide more precise insights into disease mechanisms and risk. #PrecisionHealth.
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Notably, we didn’t see enrichment of CKD-related polygenic risks in uKF cases. This highlights that the biology of uKF is distinct from common CKD, supporting the need for different diagnostic approaches in these patients. #CKD #GeneticsMatters.
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Why does this matter? 🤔 It suggests that APOL1 and HLA might interact to drive autoimmune kidney damage (podocytopathy), contributing to uKF in these individuals. A key step toward understanding the complex genetics of kidney disease! 🧬🧠 #APOL1HLA.
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Using polygenic risk scores, we found something interesting: patients with high-risk APOL1 genotypes also had higher SSNS (Steroid-Sensitive Nephrotic Syndrome) PRS, particularly driven by an HLA variant – **HLA-DQB1*03:19**. This allele is enriched in West Africa specifically.
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One standout result: **APOL1**. 🚨 52% of uKF patients of African ancestry carried high-risk APOL1 variants (vs. 8.4% of controls). This shows APOL1 plays a significant role in uKF for people with African ancestry. #HealthDisparities #APOL1.
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We found that 17% of patients had a clear genetic diagnosis, especially younger individuals (<36 years) or those with a family history. However, fewer diagnoses were made in older patients or those without a family history. #WGS #PrecisionMedicine.
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KF is a mystery in ~15% of patients requiring kidney replacement therapy. Without a diagnosis, it’s hard to predict recurrence after transplant, assess familial risk, or guide treatments. Enter genomics! 🧬 #Nephrology #Genomics.
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🚨 New pre-print alert! 🚨Our team explored the genetic causes behind unexplained kidney failure (uKF) using whole-genome sequencing (WGS) in a cohort of 218 patients @GenomicsEngland. Let’s dive into the key findings! 🧵👇 #NephTwitter #Genetics #KidneyDisease #100KGP.
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RT @LTubularCentre: We are heartbroken to announce that Prof (Stephen) Ben Walsh, died peacefully on 30th Sept while surrounded by family &….
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Help UCL Renal raise money to support UCL
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RT @RenalGenomics: Quantifying the effect sizes across the spectrum of variants in cystic kidney disease is out today: .
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RT @EdjCarr: Now open! . Incl an IgA nephropathy project in my group. We will fill in gaps in pathogenesis, aiming to better match new/up….
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RT @JASN_News: Study demonstrates polycystin-2 is a key regulator of cardiomyocyte’s ability to produce natriuretic peptides in mouse and h….
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