Eric R. Gamazon
@egamazon
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Genomics & Genetic Medicine. Life Member, @clarehall_cam, Cambridge University. Associate Professor w/ tenure @VUMCgenetics. NIH Genomic Innovator Award.
Nashville, TN; Cambridge, UK
Joined June 2009
Excited that our study on a unified framework for joint-tissue transcriptome-wide association and MR analysis is now out @NatureGenet Huge thanks and congrats to postdoc @zdangm and colleagues at @VUMCgenetics @UpstateNews
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Our new work in @Cell_Metabolism by @ArtemAKhan describes three new SLC transporters, including SLC25A45, a mitochondrial transporter for methylated amino acids that is essential for carnitine synthesis and fasting adaptation. @RockefellerUniv
cell.com
Khan et al. apply machine learning to identify substrates of UNC93A, SLC45A4, and SLC25A45. Biochemical assays and in vivo metabolite tracing establish SLC25A45 as a key mediator of mitochondrial...
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Excited to share our work on discovery of SLC25A45 as a mediator of mitochondrial methylated amino acid import and carnitine biosynthesis. @Cell_Metabolism @RockefellerUniv
cell.com
Khan et al. apply machine learning to identify substrates of UNC93A, SLC45A4, and SLC25A45. Biochemical assays and in vivo metabolite tracing establish SLC25A45 as a key mediator of mitochondrial...
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Thank you so much to @patrickhu and all the other amazing folks, including @NancyGenetics, @AlexBickMDPhD, @ZinkelLab, @egamazon, from the @VUMC_MedPSTP + @VUMCDiscoveries I had the privilege to interact with as the Harrison Society Visiting Professor!
Many thanks to Harrison Society Visiting Professor @bloodgenes for his AMAZING @VUMCDiscoveries Medicine Grand Rounds presentation on genotype-phenotype correlations in human hematopoiesis (and sage advice to our young physician-scientists over lunch)
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It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS, indeterminate dendritic cell histiocytosis
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So excited to announce publication of our research paper "Myeloid-Specific JAK2 Contributes to Inflammation and Salt Sensitivity of Blood Pressure" in @CircRes @AHAScience @nih_nhlbi! https://t.co/6CaZiUxrpq Congrats @saleemMMH @ashleylpitzer @LErtuglu @DoctorAlbritton
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1. The layman summary of our recent publication @CircRes 1. We study why some people's blood pressure goes up when they eat too much salt. We found that certain immune cells, called antigen-presenting cells (APCs), play an important role in this process. https://t.co/2QoMnkwvMK
ahajournals.org
BACKGROUND: Salt sensitivity of blood pressure (SSBP), characterized by acute changes in blood pressure with changes in dietary sodium intake, is an independent risk factor for cardiovascular disease...
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So awesome to hang out with wildly successful lab alumnus @AlexBickMDPhD, the new Division Director of Genetic Medicine @VUMC_Medicine!
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A study in @NatureGenet presents a multiomic GeneMAP platform for discovery of metabolic gene function and identifies SCL25A48 GENE as a mediator of mitochondrial choline import. https://t.co/SxulnBDkuo
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Recently, at least three research groups independently discovered a mitochondrial membrane choline transporter protein, SLC25A48. Two of the discoveries were through GWAS of plasma and urine choline levels. A nice example of human genetics → new biology. I wrote a small blog
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New work from our lab’s genomics guru @ArtemAKhan with @egamazon. Artem generated a new platform for metabolic gene discovery and identified the mitochondrial choline transporter. @RockefellerUniv @NatureGenet
nature.com
Nature Genetics - This study presents a multiomic Gene–Metabolite Association Prediction (GeneMAP) platform for discovery of metabolic gene function and identifies SLC25A48 as a mediator of...
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I am thrilled to share that our recent study on the development of a metabolic gene function discovery platform is now online on Nature Genetics. https://t.co/Ti3RDpMTSG.
nature.com
Nature Genetics - This study presents a multiomic Gene–Metabolite Association Prediction (GeneMAP) platform for discovery of metabolic gene function and identifies SLC25A48 as a mediator of...
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I would like to thank @KivancBirsoy and @egamazon for their mentorship, all the coauthors for their valuable input as well as @RockefellerUniv and Boehringer-Ingelheim PhD Fonds for providing me with the funding and the resources.
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A few thoughts on the recent set of papers torture testing genomic deep learning for predicting individual-level gene expression [ https://t.co/rRUBH7sW6m , https://t.co/ZLcoXGPbWD , https://t.co/Je9pFg4kX2 ]. First a brief summary 🧵: https://t.co/yUKnoeeA4r
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A picture of Cambridge every day since 2010. (No 5000) Tuesday 5th December 2023. So here it is - my final picture of uninterrupted daily photographs of Cambridge - 5,000 consecutive posts over 13 years. I’m sure you’ll forgive the fact that it wasn’t taken today but a week ago
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Combining health records from primary and secondary care we identified >5k cases @uk_biobank and identified 3 genomic risk loci 🧬 replicated findings in @EastLondonGenes and @VUMChealth
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🚨Paper alert🚨 There are hundreds of disease that are common, but understudied. We linked electronic health records with #Genetics @uk_biobank and identified the first risk genes for #Raynauds phenomenon that causes painful vasospasms @WeAreSRUK
https://t.co/RDI7sr1yF5
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It's always exciting and thrilling to read about the GWAS discoveries of low-hanging fruits. Recently, two research groups have gotten their hands on a GWAS signal near ADRA2A that turned out to be a strong genetic risk factor for Reynaud's phenomenon. The first preprint by
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Excited to share our work, just out & featured in @NatMachIntell We develop a ML approach for gene expression imputation across cell types/tissues. With Ramon @bidumit @pl219_Cambridge @chaitjo @DobrikG Phillip @VUMCgenetics @Cambridge_CL @cancer_dynamics
https://t.co/gO4VfnZI8z
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I always questioned when do you really **need** hypergraph GNNs? For modelling biological interactions beyond pairs, such as gene expression: HYFA processes gene expression values for patients collected from multiple organs. Paper: https://t.co/EcHQv7xsPJ
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Excited to share the final version of our work out now in @Cell_Metabolism! Our new data show that choline loss severely impacts mitochondrial ultrastructure and membrane potential. We also partially rescue the embryonic lethality of Flvcr1 KO mice with choline supplementation
Our (now published) work identifying the major mammalian choline transporter by fantastic @TimCKenny @RockefellerUniv
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