Avash Das, MBBS, PhD
@avash22
Molecular Genetic Pathology Fellow @MGBpathology via @BIDMCpath @harvardmed| PhD @lab_hobbs @UTSW via @SaumyaDas_lab|
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A bird's eye view of the human genetics of non-alcoholic fatty liver disease (NAFLD) showing genes linked to NAFLD via common and rare germline variants and somatic mutations, from a recent review by Mancina, Valenti & Romeo. Nat Metab 2025 (nature.com/articles/s4225…) One thing…
Great preview from @SanchoShimizu on the challenge of VUS in inborn errors of immunity and in general. AND on the fact that IEIs are likely more common than thought in general pop. cell.com/cell/fulltext/… in @CellPressNews
Curious how proteins find their way to #LipidDroplets? Our bipartite review traces their journey from ER insertion to LD partitioning: 👉 Navigating lipid droplet proteins - part II: Molecular mechanisms of ER-to-LD protein partitioning tinyurl.com/377hn9zs
portlandpress.com
Navigating lipid droplet proteins – part II: molecular mechanisms underlying ER-to-lipid droplet...
Lipid droplets (LDs) originate from the endoplasmic reticulum (ER) and are unique among cellular organelles, as they consist of a hydrophobic core of neutral lipids that is surrounded by a phosphol...
Excited to present at USCAP 2026 in San Antonio! Grateful for the opportunity to present and connect with the incredible pathology community! #hemepath #uscap2026
The functional impact of 17,000 (!) missense LDLR variants on LDLR cell-surface abundance and LDL uptake and their effects on hyperlipidemia phenotypes @ScienceMagazine
In this 6-min video, I show how to use iDEP to interpret bulk RNA-seq data. Start with QC plots and exploratory analyses before identifying differentially regulated genes and pathways. Here, we picked up on high mitochondrial rRNA counts, one male sample mixed in with seven…
Entering our fourth decade: The next chapter of Liver Transplantation by @acv69cardenas @timucin_taner journals.lww.com/lt/citation/99…
We published on the feasibility of panel-based PGx testing from @MayoClinicCIM grant in 2017. ✔️Quick cheek swab/mail-out. 🧪 ✔️3-5 days turnaround.⏱️ ✔️Cost effective. Cheaper to do 29 genes than ordering one gene.🤯 ✔️Oncology➕Supportive care🧬 🔗journals.sagepub.com/doi/10.1177/15…
The prognosis of liver disease depends on the extent of fibrosis, which is usually staged with the use of liver biopsy. The limitations of biopsy have led to the development of noninvasive tests, which Drs. Laurent Castera, Mary E. Rinella, and Emmanuel A. Tsochatzis review.…
I just got laid off this morning from Myriad Genetics Looking for new opportunities, RT’s appreciated, DM’s open My experience: Protein design + engineering NGS + Bioinformatics + some software dev Data Science + Analytics Synbio + Cancer Genetics
New in @MolecularCell! We discovered how mitochondrial succinate dehydrogenase (SDH) controls purine synthesis—and it's not what you'd expect. SDH loss → succinate buildup → SHMT2 succinylation → blocked one-carbon flow → no purines 🧬
Excited to share our latest work out today in @MolecularCell, revealing a molecular link between succinate dehydrogenase and purine synthesis, connecting two fundamental metabolic pathways. Congratulations to first author @MushtaqNengroo! sciencedirect.com/science/articl…
Optimizing multifunctional fluorescent ligands for intracellular labeling | PNAS pnas.org/doi/10.1073/pn…
We're thrilled to announce SeqHub, an AI-enabled platform for biological sequence analysis. SeqHub brings together sequence search, genome annotation, and data sharing in one place. I dreamed of a single place where I could learn everything about my sequences. Today, a much more…
Effects of nutrients and diet on mitochondrial dysfunction: An opportunity for therapeutic approaches in human disease sciencedirect.com/science/articl…
11/ Want to learn bioinformatics without the fluff? Stick around. I’ve been where you are. Let’s make the leap—together. Follow for real-world tips from the lab to the cloud. — Tommy aka. crazyhottommy
One of the main goals of our review article in @NEJM on MGUS was to provide clear clarifications on the concept of “monoclonal gammopathy of clinical significance” (MGCS). It’s all very confusing in the literature and can cause problems for patients if we are not totally clear of…
Enjoyed reading this recent work by Farooqi, Collet and colleagues in Nature Medicine on the paradoxical reduction in cardiovascular risk in MC4R deficiency. Obesity is a major risk factor for cardiovascular disease. So, you'd expect individuals with MC4R deficiency, who often…
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