#ASHG

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

7 hours ago

HGG Advances Online Journal Club

Hear it directly from the author.
Join TODAY’s Journal Club for a live presentation + Q&A with @robbeewedow.bsky.social, exploring how genetics education challenges genetic essentialism.

⏰Starts at 12 pm U.S. ET
🔗Register now: https://bit.ly/4rF8FrE @hggadvances.bsky.social #ASHG #HumanGenetics

Shicheng Guo

@shihcheng.bsky.social

10 hours ago

Protein and genomic models achieve 99% precision, 92% recall in predicting antiphage systems, revealing 12 new ones in Escherichia & Streptomyces. PMID:41926572, Science 2026, @ScienceMagazine https://doi.org/10.1126/science.adv8275 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

14 hours ago

A woman in her 30s developed melanoma linked to a BAP1-inactivated melanocytic tumor. What's next in understanding genetic risks? PMID:41848722, JAMA Dermatol 2026 https://doi.org/10.1001/jamadermatol.2025.5354 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

15 hours ago

Dissecting yeast RNA polymerase I: Integrating biochemistry, biophysics & dynamics to unveil transcription initiation's quantitative landscape. PMID:41732916, Nucleic Acids Res 2026, @NAR_Open https://doi.org/10.1093/nar/gkag153 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

19 hours ago

Harnessing glucocorticoid receptor antagonism to enhance the efficacy of cardiac regenerative growth factors and cytokines | Nature Cardiovascular Research Myocardial injuries lead to cardiomyocyte loss and heart failure. Endogenous glucocorticoids, via the glucocorticoid receptor (GR), limit cardiomyocyte regeneration. Here we show that glucocorticoids suppress mammalian (murine) cardiomyocyte proliferative response to regenerative growth factors and cytokines. GR activation in neonatal cardiomyocytes upregulated MAPK–ERK inhibitors ERRFI1 and DUSP1. Using neuregulin 1 as a model, we demonstrated that glucocorticoids inhibit growth-factor-induced ERK activation, nuclear translocation and transcriptional output. Errfi1 and Dusp1 knockdown restored growth-factor-induced proliferation of glucocorticoid-exposed cardiomyocytes. Cardiac expression of DUSP1 and ERRFI1 increased postnatally, coinciding with regenerative capacity decline. In juvenile and adult cardiomyocytes, regenerative growth factors failed to induce the MAPK–ERK pathway and proliferation; however, DUSP1 inhibition restored these responses. GR antagonism enhanced growth-factor

Unlock heart healing! Glucocorticoid receptor (GR) blockage boosts heart cell regeneration via growth factors like Neuregulin1. PMID:41652035, Nat Cardiovasc Res 2026 https://doi.org/10.1038/s44161-026-00776-9 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

1 day ago

Inside HGGA: A Chat with Joshua Hack and Mohammad Nazim Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Joshua Hack and Mohammad Nazim to discuss the...

@hggadvances.bsky.social sat with Joshua Hack & Mohammad Nazim, PhD, in the latest "Inside HGGA" to discuss their recently published paper, “Gene-specific pathogenicity predictor for chromatin remodeling BAF complex-associated neurodevelopmental disorders.“ ➡️ https://bit.ly/4mamopg #ASHG

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

1 day ago

American Society of Human Genetics

ASHG has released a statement on the President's FY 2027 Budget Request, outlining serious concerns about proposed cuts to NIH, NSF, and ARPA‑H.

Strong federal investment in research matters. Members can take action today by contacting Congress.
🔗 https://bit.ly/4vhdF8A #ASHG

Shicheng Guo

@shihcheng.bsky.social

1 day ago

Evo 2. advances biological design by learning from genomes across all life. Transform insights with AI for smarter genomic editing and synthesis. PMID:41781614, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10176-5 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

1 day ago

The glomerular endothelial glycocalyx as a therapeutic target in proteinuric kidney disease | Nature Reviews Nephrology Endothelial glycocalyx lines every blood vessel throughout the body, and has key roles in vascular biology, including vascular permeability and inflammation. Accumulated evidence from the past 15 years shows that the glomerular endothelial glycocalyx is a vital component of the glomerular filtration barrier, which limits the filtration of macromolecules such as albumin. However, the contribution of endothelial glycocalyx to the pathogenesis of proteinuria and its potential as a therapeutic target have not been fully explored. Experimental disruption of the glomerular endothelial glycocalyx increases glomerular albumin permeability, and loss of endothelial glycocalyx integrity has been observed in diseases that compromise the glomerular filtration barrier, including diabetic kidney disease and other glomerular diseases. Strategies to protect the endothelial glycocalyx have successfully reduced proteinuria in animal models of proteinuric kidney disease, indicating that therapeutic modifi

Discover how the glomerular endothelial glycocalyx, crucial for vascular permeability, may be key in treating proteinuria! PMID:41272309, Nat Rev Nephrol 2026, @NatRevNeph https://doi.org/10.1038/s41581-025-01028-y #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

1 day ago

Organ-on-a-chip tech is a game-changer for cardiovascular research, beating limits of in vitro & animal models with 3D structures. PMID:41673471, Nat Rev Cardiol 2026, @NatRevCardiol https://doi.org/10.1038/s41569-026-01255-1 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

2 days ago

Discover how 1,089 proteins link pollutants to diseases. Study reveals 30 health risks tied to air pollution. Dive into the UK Biobank data for insights! PMID:41620459, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-68972-6 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

2 days ago

Lysine-11 ubiquitination drives type-I/III interferon induction by cGAS–STING and Toll-like receptors 3 and 4 | Nature Cell Biology Pattern recognition receptor (PRR)-induced interferon (IFN) is critical for effective immunity. The PRRs Toll-like receptor (TLR) 3, TLR4 and cyclic GMP–AMP synthase (cGAS), together with the stimulator of IFN genes (STING), signal through TANK-binding kinase 1 (TBK1), which activates the type-I/III IFN-inducing transcription factor interferon-response factor 3 (IRF3). The mechanism by which these PRRs activate TBK1 remains unresolved. Here we show that lysine-11 (K11)-linked ubiquitination drives TBK1 activation by these PRRs. The E3 ligase ANKIB1 attaches K11-linked ubiquitin chains to components of the TLR3- and cGAS–STING-induced signalosomes. This facilitates Optineurin recruitment to these complexes, in turn enabling recruitment and activation of TBK1 and IRF3, defining an uncharacterized signalling axis. In mice, ANKIB1 deficiency dampens IFN induction via TLR3 and cGAS–STING, reducing interferonopathy and compromising protection against HSV-1, respectively. Together, our result

K11-linked ubiquitination activates TBK1, driving type-I/III IFN induction via cGAS-STING, TLR3, and TLR4 pathways. Key PRR strategy! PMID:41792265, Nat Cell Biol 2026, @NatureCellBio https://doi.org/10.1038/s41556-026-01886-z #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

2 days ago

Entorhinal cortex represents task-relevant remote locations independently of CA1 | Nature Neuroscience Neurons can collectively represent the current sensory experience during exploration or remote experiences during immobility. Remote representations can reflect learned associations and support learning. Neurons in medial entorhinal cortex (MEC) represent the animal’s current location during movement, but little is known about MEC representations during immobility. We recorded hundreds of neurons simultaneously in MEC and CA1 as mice learned to associate pairs of rewarded locations. During immobility, the MEC neural population frequently represented positions far from the animal’s location (‘nonlocal coding’). Cells with spatial firing fields at remote locations drove nonlocal coding, even as cells representing the current position remained active. While MEC nonlocal coding has been reported during sharp-wave ripples in CA1, we observed nonlocal coding more often outside of ripples and saw less CA1–MEC coordination during nonlocal coding. Further, nonlocal coding preferentially represe

MEC neurons represent remote locations during immobility independently of CA1. Crucial for learning location pairs in tasks. #Neuroscience PMID:41922514, Nat Neurosci 2026, @NatureNeuro @Stanford https://doi.org/10.1038/s41593-026-02232-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

3 days ago

PDA cells modulate autophagy via ECM sensing through the α3 integrin-Hippo-YAP1 axis, highlighting a novel pathway in tumor heterogeneity regulation. PMID:41702399, Cell 2026, @Cell www.cell.com/cell/fulltext/S0092-8674... #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

3 days ago

Discover how 7 DNA repair patterns guide CRISPR outcomes! Dive into genome-wide networks with indel pattern-guided insights. PMID:41891877, Nucleic Acids Res 2026, @NAR_Open @OTSociety @NAR_Open https://doi.org/10.1093/nar/gkag260 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

4 days ago

Delve into ethical dilemmas of RDD trials for stopping opioid use disorder meds. Key insights from JAMA Psychiatry. PMID:41848706, JAMA Psychiatry 2026, @JAMAPsych https://doi.org/10.1001/jamapsychiatry.2026.0246 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

4 days ago

CRISPR-Cas12a activity enhanced! Reversible crRNA scaffold remodeling via short DNA blockers boosts precision and control. PMID:41784267, Nucleic Acids Res 2026, @NAR_Open @OTSociety @NAR_Open https://doi.org/10.1093/nar/gkag167 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

4 days ago

Detect disease origins and therapy responses from just 50μl of plasma with cf-EpiTracing! Profiles histone mods, integrates chromatin states, uses AI. PMID:41781618, Nature 2026, @Nature https://doi.org/10.1038/s41586-026-10224-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

4 days ago

Quality-oriented diet therapy for chronic kidney disease | Nature Reviews Nephrology Traditional dietary advice for people living with chronic kidney disease (CKD) focused predominantly on the quantity of energy and protein provided by the diet as well as restricting the consumption of single micronutrients. However, flaws in the assumptions that underlie this quantity-based approach have led to re-examination of medical nutrition therapy for kidney-related conditions, with a shift towards recommending more varied and liberalized plant-rich diets with a focus on dietary quality. Although clinical practice guidelines for patients with CKD have cautiously acknowledged this shift, less advice is available on how to translate new knowledge into practical and feasible recommendations that describe which foods patients should be advised to eat. In this Review, we provide a framework for the delivery of quality-oriented diet therapy for people with CKD based on the dietary principles of balance, variety and moderation. This approach also requires consideration of the manner i

Revised CKD diet therapy: Move from rigid nutrient limits to diverse, plant-rich focus for improved nutrition quality! PMID:41491876, Nat Rev Nephrol 2026, @NatRevNeph https://doi.org/10.1038/s41581-025-01034-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

4 days ago

Health of adipose tissue: oestrogen matters | Nature Reviews Endocrinology Menopausal women are more likely than premenopausal women to gain weight in the form of excess adipose tissue, which becomes preferentially deposited in the viscera. This body composition shift, largely driven by declining oestrogen levels, increases cardiometabolic disease risk. Oestrogens are key hormones involved in many metabolic processes, including in adipose tissue. Given the strong influence that adipose tissue health has on systemic metabolism, additional insights into mechanisms by which oestrogens affect adipose tissue phenotype and function are critical. Not only is adipose tissue affected by oestrogen signalling, adipose tissue is also a major source of circulating oestrogens, and the only appreciable source of oestrogens for men and postmenopausal women. Therefore, women with obesity have higher circulating levels of oestrogens, but whether this fact contributes to the diverse comorbidities of obesity (such as, cancer, metabolic syndrome and osteoporosis) remains unclear.

Menopause ups visceral fat, often due to lower oestrogen, raising cardiometabolic risk in women. Insights needed! PMID:41006902, Nat Rev Endocrinol 2026, @NatureRevEndo https://doi.org/10.1038/s41574-025-01180-2 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

4 days ago

What will next week’s Journal Club cover @robbeewedow.bsky.social explains—in under a minute.

Watch the video, then follow the link to register!
🗓️April 8
🔗learning.ashg.org/products/genetics-curric... #ASHG #HumanGenetics @hggadvances.bsky.social

Shicheng Guo

@shihcheng.bsky.social

5 days ago

Prime Editing corrects delGT in NCF1 for p47^phox-deficient CGD. Two participants received stem-cell therapy PM359 with busulfan prep. PMID:41358590, N Engl J Med 2026, @NEJM https://doi.org/10.1056/NEJMoa2509807 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

5 days ago

Programmable macromolecule delivery via engineered trogocytosis | Nature Cell Biology Trogocytosis, the transfer of plasma membrane fragments during cell–cell contact, offers potential for macromolecular delivery but is limited by the uncertain fate of trogocytosed molecules, restriction to membrane cargo and unclear generalizability. Here we demonstrate that donor cells engineered with designed receptors specific to surface ligands can transfer proteins to recipient cells through direct contact. We identified key engineering principles for enhancing transfer and ensuring cargo functionalization, including receptor design, pH-responsive membrane fusion, inducible cargo localization and release, and subcellular translocation. The method is broadly applicable across diverse cell types and operates through a dynamin- and endosome acidification-dependent pathway. Exploiting these findings, we developed TRANSFER, a versatile delivery system with programmable cell type specificity and tunability. TRANSFER can sense multiple ligand inputs, deliver large therapeutic protein car

New tech for macromolecule transfer: Engineered receptors enable direct protein delivery between cells via trogocytosis! #BiotechRevolution PMID:41922519, Nat Cell Biol 2026, @NatureCellBio @Stanford https://doi.org/10.1038/s41556-026-01920-0 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

5 days ago

DPEP2 cuts sepsis death risk, regulating inflammation via macrophage metabolism. Reduced DPEP2 in sepsis correlates with severe inflammation and outcomes. PMID:41803155, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-70466-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

5 days ago

Glucocorticoids in the ED for migraine may pose risks; not advised as first-line for adults or kids. Use with caution! PMID:41661582, JAMA Neurol 2026, @JAMANeuro https://doi.org/10.1001/jamaneurol.2025.5493 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social

5 days ago

Omics, Regulation, & AI for Precision Cardiovascular Medicine Virtual Symposium | April 28-29 Register Now ASHG

Two days on the future of cardiovascular research & care at the Omics, Regulation & AI for Precision Cardiovascular Medicine Virtual Symposium. Each day opens with a keynote—Bruce Gelb, MD (Apr 28) & Barry J. Byrne, MD, PhD (Apr 29). Register today: https://bit.ly/41wDRyt #ASHG

Shicheng Guo

@shihcheng.bsky.social

6 days ago

Discover how a new protein family, designed via deep learning and physics methods, achieves nanomolar to low micromolar affinities for 6 small molecules! PMID:41904144, Nat Commun 2026, @NatureComms https://doi.org/10.1038/s41467-026-70953-8 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

6 days ago

A study finds NANP inhibition radiosensitizes glioblastoma by a TNFR1-driven mesenchymal shift, potentially improving GBM therapy. PMID:41851195, Nat Commun 2026, @NatureComms @OTSociety @NAR_Open https://doi.org/10.1038/s41467-026-70853-x #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

6 days ago

Magnetic resonance microscopy maps widespread effects of Alzheimer’s disease on brain structures and behavior in mice | Nature Neuroscience Alzheimer’s disease has widespread effects on brain structure, function and behavior, but we lack a systematic dissection of its impact across hundreds of forebrain and brainstem regions. Here, using diffusion tensor MRI at 25 µm, we mapped the global consequences of mutations in APP and PSEN1 across 231 regions of interest (ROIs) in male and female 5×FAD BXD hybrid mice at 14 months. Over half of the ROIs change in volume along rostrocaudal and mediolateral axes of the CNS, with unexpected swelling in the neocortex, hippocampus and amygdala of up to 10%, counterbalanced by shrinkage in the thalamus, brainstem and most white matter tracts. Yet, total brain volume is unaltered. Variation in individual ROI volumes is highest in females. Differences in fear acquisition and contextual memory performance covary with volumes of several regions and can have opposite polarities between cases and controls. These structural benchmarks establish a foundation for testing therapeutic interventions

Alzheimer's mutations in APP/PSEN1 alter over 50% of 231 brain regions in 5×FAD BXD mice. Detailed MRI maps reveal vast changes at 25μm. PMID:41748785, Nat Neurosci 2026, @NatureNeuro https://doi.org/10.1038/s41593-025-02199-4 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪

Shicheng Guo

@shihcheng.bsky.social

6 days ago

Chronic kidney disease affects ~10% globally, challenging the single-cause approach. Reassessing kidney capacity-workload balance is key. PMID:41491877, Nat Rev Nephrol 2026, @NatRevNeph https://doi.org/10.1038/s41581-025-01038-w #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪