Splicing News and Research

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Non-coding RNA mutations unveiled as new cause of retinitis pigmentosa

Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with night blindness in youth and progresses to tunnel vision as daylight-sensing photoreceptor cells in the retina gradually die, potentially leading to blindness over time.

9 Jan 2026

Novel antisense oligonucleotide shows promise against aggressive pancreatic cancer

Pancreatic ductal adenocarcinoma (PDAC) is the most lethal form of pancreas cancer. It's also the most common form of the disease.

8 Jan 2026

RNA splicing and processing genes emerge as central drivers of aging across tissues

A new research paper featured as the cover of Volume 17, Issue 12 of Aging-US was published on December 22, 2025, titled "A combination of differential expression and network connectivity analyses identifies a common set of RNA splicing and processing genes altered with age across human tissues."

5 Jan 2026

Splicing regulator U2AF1 promotes angiogenesis in cardiac injury

A study published in Engineering shows that a protein called U2 small nuclear RNA auxiliary factor 1 (U2AF1), released by immune cells known as macrophages, helps grow new blood vessels in the heart after a myocardial infarction (MI) by altering how the gene Yap1 is spliced.

22 Dec 2025

Gestational diabetes alters the placenta at the molecular level, study reveals

Gestational diabetes can cause a multitude of complications in the offspring, but to date, the reasons are incompletely understood.

18 Dec 2025

RNAConnect launches the UltraMarathonRT Direct RNA‑Seq Kit to advance nanopore-based native RNA sequencing

RNAConnect, a life science company providing next generation tools to the RNA community, today announced the commercial availability of the UltraMarathonRT® Direct RNA‑Seq (uMRT DRS) Kit, a native‑RNA library preparation solution for Oxford Nanopore Technologies® direct RNA sequencing (SQK-RNA004).

From RNAConnect 17 Dec 2025

Human gene maps show widespread gaps in non-European representation

Human gene maps contain major blind spots because they were built largely from the DNA sequences of people with European ancestry, according to a study published today in Nature Communications.

3 Dec 2025

Protein tied to ALS and dementia plays a role in regulating DNA mismatch repair

New Houston Methodist research has revealed that a protein associated with neurodegenerative diseases such as dementia and amyotrophic lateral sclerosis (ALS) also plays a role in regulating DNA mismatch repair, a process essential for replicating genetic information and cell health.

2 Dec 2025

Researchers capture a ribozyme in motion for the first time

RNA is a central biological macromolecule, now widely harnessed in medicine and nanotechnology. Like proteins, RNA function often depends on its precise three-dimensional structure.

27 Nov 2025

Study reveals how gestational diabetes disrupts the placenta at the molecular level

Gestational diabetes can cause a multitude of complications in the offspring, but to date, the reasons are incompletely understood.

18 Nov 2025

Targeting RNA splicing errors protects against tau-induced neurodegeneration

Alzheimer's Disease (AD), the leading cause of dementia, affects nearly 40 million individuals globally, resulting in a gradual loss of memory and independence. Despite extensive research over the past decades, no treatments have been found that can halt or reverse the progression of this devastating disease.

11 Nov 2025

New insights reveal how TCF and LEF proteins control Wnt signaling and disease progression

Researchers have unveiled the intricate molecular mechanisms governing TCF/LEF-mediated transcription in the canonical Wnt pathway, identifying these proteins as promising therapeutic targets for cancer and fibrotic diseases.

7 Nov 2025

Study reveals how TDP-43 causes neuronal overactivity in ALS and FTD

A new Northwestern University study using patient nervous tissue and lab-grown human neurons has uncovered how a key disease protein, TDP-43, drives overactive nerve cells in the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

31 Oct 2025

Reducing ketone levels and increasing exercise capacity could help manage diabetic ketoacidosis

A researcher at the University of Houston finds management of diabetic ketoacidosis may center around reducing ketone levels in diabetic patients and increasing exercise capacity for better health outcomes.

30 Oct 2025

Understanding the role of m6A methylation in acute lung injury pathogenesis

Acute lung injury (ALI) is a critical clinical condition characterized by diffuse inflammation of the lung parenchyma and intractable hypoxemia, typically caused by factors, such as trauma, pneumonia, shock, and sepsis.

30 Oct 2025

Cancer hijacks embryonic gene editors to fuel growth

Cancer cells are known to reawaken embryonic genes to grow. A new study reveals the disease also hijacks the proteins, or "editors", that control how those genes are read.

16 Oct 2025

Scientists uncover 53 genetic clues that shape math ability beyond IQ

Researchers uncovered 53 genetic loci linked to quantitative ability, distinguishing it from general intelligence and non-cognitive skills. The study highlights brain pathways in axon guidance, synaptic signaling, and mRNA splicing as biological underpinnings of math-related ability.

22 Sep 2025

Researchers uncover how HIV-1 uses RNA:DNA hybrids to integrate into the genome

Researchers at the German Center for Infection Research (DZIF) at Heidelberg University Hospital have decoded a previously unknown mechanism by which HIV-1 selects its integration targets in the human genome.

16 Sep 2025

New method advances RNA velocity analysis with spatial and multi batch integration

Essentially all cells in an organism's body have the same genetic blueprint, or genome, but the set of genes that are actively expressed at any given time in a cell determines what type of cell it will be and its function.

5 Sep 2025

Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth retardation, small head (microcephaly), developmental delays, cognitive impairments, excess hair growth, and limb anomalies.

29 Aug 2025