Olga Anczukow

CRISPR activation for SCN2A-related neurodevelopmental disorders - Nature Using SCN2A haploinsufficiency as a proof-of-concept, upregulation of the existing functional gene copy through CRISPR activation was able to rescue neurological-associated phenotypes in Scn2a haploin...

CRISPR activation restores expression of a haploinsufficient neuronal sodium channel, rescuing neuronal deficits associated with multiple neurodevelopmental disorders. #NBThighlight www.nature.com/articles/s41...

The cover illustrates a lipid nanoparticle-encapsulated mRNA vaccine (left) producing and launching a nanoparticle immunogen (right) that elicits broad and durable immune responses.

This week's issue of #ScienceTranslationalMedicine has arrived!

New mRNA vaccines generate self-assembling nanoparticles to enhance immunity, dual-targeting "decoys" prevent metastasis and potentiate immunotherapy against melanoma in mice, and more. https://scim.ag/4n6wrKC

Somatic mutation and selection at population scale - Nature A new version of nanorate DNA sequencing, with an error rate lower than five errors per billion base pairs and compatible with whole-exome and targeted capture, enables epidemiological-scale studies of somatic mutation and selection and the generation of high-resolution selection maps across coding and non-coding sites for many genes.

Our latest work is out in Nature today. In this paper, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people www.nature.com/articles/s41...

Cambridge researchers show that whole genome sequencing for breast cancer patients is likely to identify unique genetic features that could guide treatment or help match patients to clinical trials - which could benefit over 15,000 women a year.

🔗 crukcambridgecentre.org.uk/news/researc...

Head-to-head preclinical treatment design prioritizes promising therapies for neurofibromatosis type 1 optic glioma clinical translation AbstractBackground. Authenticated preclinical brain tumor models provide unprecedented opportunities to evaluate next-generation treatments. However, some

Excited to share our latest work in Neuro-Oncology Advances! 🥳 After comparing several potential therapies, we identified lamotrigine as a promising therapy for NF1 optic glioma, showing both tumor reduction and vision protection. Check out the work of our great team!

Collective homeostasis of condensation-prone proteins via their mRNAs - Nature The authors discover a homeostatic process termed interstasis, in which an increased concentration of proteins within RNA–protein condensates induces the sequestration of their own mRNAs.

This is a fascinating paper that particular types of RNA binding proteins with IDRs that target nuclear speckles also can recruit their own RNAs to nuclear speckles as a negative feedback mechanism for condensation the authors call "interstasis" www.nature.com/articles/s41...

Huntington's disease successfully treated for first time One of the most devastating diseases finally has a treatment that can slow its progression and transform lives, tearful doctors tell BBC.

New cures feel sudden, but the seeds were planted decades ago by basic scientists.

Which seeds will turn into cures? Unpredictable looking forward, a straight line looking back. 🧪🧬 🧵

Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome UPF1 depletion inhibits nonsense-mediated mRNA decay (NMD) and stabilizes direct target transcripts within hours. Boehm et al. use conditional protein degradation and advanced transcriptomics to map t...

Very harmonious and inspiring collaboration with Niels Gehring, @volkerboehm.bsky.social and team at Uni Köln, and colleagues at @mdc-berlin.bsky.social . Rapid UPF1 depletion illuminates the temporal dynamics of the NMD-regulated human transcriptome: Molecular Cell www.cell.com/molecular-ce...

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE).

📄 www.medrxiv.org/content/10.1...

QKI ensures splicing fidelity during cardiogenesis by engaging the U6 tri-snRNP to activate splicing at weak 5ʹ splice sites During organogenesis, precise pre-mRNA splicing is essential to assemble tissue architecture. Many developmentally essential exons bear weak 5'splice sites (5'SS) yet are spliced with high precision, ...

Excited to share some new work from our group - www.biorxiv.org/content/10.1...

A great collaboration with @kurianlab.bsky.social that began with how an RBP (QKI) controls cardiomyocyte function, and led to uncovering a unique mechanism of direct interaction with U6 & the tri-snRNP at weak 5'SS

We are proud to present a Special Issue on Cancer Neuroscience, curated by editors Bennie Babayan & Ted Dobie. This issue offers a snapshot of the field through a collection of Perspectives, Reviews, and NeuroViews: cell.com/neuron/issue.... See below for details on the pieces:

Interferons in health and disease The cytokine messenger proteins known as interferons are central to protective immune responses against infections, but they are also involved in inflammatory and autoimmune diseases. This review maps...

Finally officially out in the latest issue of @cp-cell.bsky.social as a #free #featured #LeadingEdge paper: everything you wanted to know about #InterferonPower! ❤️ @danielboehmer.bsky.social @bostonchildrens.bsky.social @harvardmed.bsky.social www.cell.com/cell/fulltex...

RNA is far more than a messenger.

Its structures regulate, evolve, and catalyze — carrying out functions DNA alone cannot.

But predicting #RNA structure from sequence is still extremely difficult.

In our recently published paper in @narjournal.bsky.social we present a way forward.

🧵 ⤵️

Isoform-level profiling of m6A epitranscriptomic signatures in human brain Direct RNA-seq in brain reveals RNA isoform and region-specific m6A modifications, highlighting their role in gene regulation.

Our paper using Oxford #Nanopore direct RNA sequencing to identify m6A modifications on RNA isoforms in human brain is now out in Science Advances. 🧪
www.science.org/doi/10.1126/...

It’s out!!!!! We hope our review on aging, immunity, and cancer is helpful.

Such a rewarding group effort led by Melissa Dolan, with Kendra Libby, Alison Ringle, and @vangalenlab.bsky.social

So grateful to @gabriellebrewer.bsky.social @natrevcancer.nature.com for her efforts and support

Excited to announce a new paper in ‪@aacrjournals.bsky.social‬ with Junwei Shi and Tony Daniyan. We perform screens of GAPs and GEFs in AML and discover a hematopoietic-specific GAP (ARHGAP45) required in a variety of hematologic malignancies:
aacrjournals.org/cancerdiscov...

MechanoAge, a machine learning platform to identify individuals susceptible to breast cancer based on mechanical properties of single cells https://www.biorxiv.org/content/10.1101/2025.08.08.668946v1

Respiratory viral infections awaken metastatic breast cancer cells in lungs - Nature Mouse models show that respiratory infections from viruses such as influenza and SARS-CoV-2 can trigger metastasis of dormant breast cancer cells in the lungs, a finding supported by epidemiological d...

Delighted to see this story out and collaborate with amazing teams led by @jdegregori.bsky.social Mercedes Rincon & @roelvermeulen.bsky.social. Proud to see science propelled by our lab @cdi-einstein.bsky.social expanded to better understand cancer dormancy. Congrats! www.nature.com/articles/s41...

Autocrine interferon poisoning mediates ADAR1-dependent synthetic lethality in BRCA1/2-mutant cancers Nature Communications - The RNA editing enzyme ADAR1 blocks interferon responses triggered by cytosolic RNA sensors, and has been proposed as a potential target in immuno-oncology. Here, the...

With super Roman Chabanon and Sophie Postal Vinay, we show that inhibition of RNA editor ADAR1 causes a new form of BRCA synthetic lethality>autocrine inferferon poisoning. Relevant for ADAR1 drug discovery. Could provide a mechanistically different approach than PARPi. rdcu.be/eyo6t

U-rich elements drive pervasive cryptic splicing in 3’ UTR massively parallel reporter assays - Nature Communications Massively parallel reporter assays (MPRAs) are powerful technologies for measuring the impact of non-coding sequences on gene expression. Here, the authors demonstrate that MPRA reporters often underg...

Our collaboration with Tony Mustoe's lab us out today. MPRA libraries and possible cryptic splicing in MPRA reporters, or reporters in general. The additional novelty here is that such events are controlled or influenced by AU-rich sequences.

www.nature.com/articles/s41...

A resource of RNA-binding protein motifs across eukaryotes reveals evolutionary dynamics and gene-regulatory function - Nature Biotechnology RNA-binding motifs in eukaryotic proteins are presented in a comprehensive resource.

A resource of RNA-binding protein motifs across eukaryotes reveals evolutionary dynamics and gene-regulatory function go.nature.com/4mc1SmQ

SPIDR enables multiplexed mapping of RNA-protein interactions and uncovers a mechanism for selective translational suppression upon cell stress SPIDR, a massively multiplexed method that simultaneously maps dozens of RNA-binding proteins to their RNA targets at single-nucleotide resolution, uncovers new RNA-protein interactions and provides c...

Woohoo! So psyched to see this awesome work from the Jovanovic lab out in the world! Congrats to all the authors on this tour-de-force!

www.cell.com/cell/fulltex...

New paper:
More than 2700 human 3′UTRs are highly conserved. These 3′UTRs are essential components in mRNA templates, as their deletion decreases protein activity without changing protein abundance. Highly conserved 3′UTRs help the folding of proteins with long IDRs.

www.biorxiv.org/content/10.1...

Our latest study is now out in @narjournal.bsky.social‬: we identify a post-transcriptional bottleneck in interferon gamma signaling that hinges on proper maturation of JAK2 mRNA.
Paper: academic.oup.com/nar/article/...

Review: From computational models of the splicing code to regulatory mechanisms and therapeutic implications https://www.nature.com/articles/s41576-024-00774-2 (read free: https://rdcu.be/dVNV4)

Identification of non-canonical peptides with moPepGen - Nature Biotechnology moPepGen enables the detection of peptides across species, proteases and technologies.

Identification of non-canonical peptides with moPepGen - @uclahealth.org @uoftmedicine.bsky.social @kislingerthomas.bsky.social go.nature.com/3HYJyyz

U1 snRNP regulates alternative promoter activity by inhibiting premature polyadenylation Kim et al. uncover a role for U1 snRNP in regulating internal promoter activity. Beyond its canonical role in splicing, U1 snRNP suppresses premature polyadenylation, enabling upstream transcription t...

Very excited to share our new paper out now in
@MolecularCell. We show how U1 snRNP -a well-known splicing factor- regulates the activity of alternative promoters in human cells www.cell.com/molecular-ce...

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease | NEJM Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality ...

A lipid nanoparticle–delivered base-editing therapy was custom designed for an infant with a ureacycle disorder. The affected infant was treated at approximately 7 and 8 months of age. Read the Brief Report: nej.md/42XF03F

#ASGCT2025 #MedSky @asgct.bsky.social

Chromatin-bound U2AF2 splicing factor ensures exon inclusion Wu et al. reveal that the splicing factor U2AF2 binds chromatin independently of RNA to guide accurate exon selection during transcription. Their findings uncover a chromatin-based mechanism that enhances splicing efficiency and ensures proper expression of genes essential for RNA processing.

Chromatin-bound U2AF2 splicing factor ensures exon inclusion

Single-molecule multimodal timing of in vivo mRNA synthesis mRNA synthesis requires extensive pre-mRNA maturation, the organisation of which remains unclear. Here, we directly sequence pre-mRNA without metabolic labelling or amplification to resolve transcript...

The timeline of co-transcriptional #mRNA processing and #modification may have to be revised: cleavage, termination, and #m6A deposition may occur earlier than most #splicing! Potential textbook changing study in bioRxiv by edueyras.bsky.social & Rippei Hayashi labs!
www.biorxiv.org/content/10.1...