Splicing News and Research

RSS

Dr. Dan Landau receives Lotus Award for ovarian cancer research

Dr. Dan Landau, the Bibliowicz Family Professor of Medicine, and a member of the Sandra and Edward Meyer Cancer Center and the Englander Institute for Precision Medicine at Weill Cornell Medicine, has received a Lotus Award from the Pershing Square Foundation for research aimed at uncovering new immunotherapy targets in ovarian cancer.

15 Jun 2026

Bee-derived propolis shows potent antiviral activity against varicella-zoster virus

Announcing a new article publication for Zoonoses journal. Varicella-zoster virus (VZV) is a clinically important human neurotropic herpesvirus that causes varicella (chickenpox) as primary infection, typically in children.

5 Jun 2026

Hidden junk DNA could play decisive role in cancer

Many repetitive regions of the genome have been considered "junk DNA" because the technologies available did not allow them to be studied at sufficient resolution.

5 Jun 2026

New study reveals nitric oxide’s widespread impact on genetics

Genes undergo extensive editing through a process called alternative splicing, which greatly increases the size of the functional genome, the working portion of our DNA that helps make each person unique. Put simply, a single gene can be edited in different ways to produce multiple sets of instructions.

22 May 2026

Tracking the aging process across tens of millions of individual cells

While much is mysterious about the aging process, change over time remains its cornerstone. The biological shifts that accompany aging seemingly occur in many cells in the body.

13 May 2026

Blood-based biomarkers identified for early inflammatory breast cancer diagnosis

Researchers at The University of Texas MD Anderson Cancer Center and The University of Texas at Austin have identified specific blood-based genomic biomarkers that distinguish inflammatory breast cancer from other subtypes, providing a new and less invasive method for early diagnosis, disease progression monitoring and treatment development for patients with this aggressive disease.

6 May 2026

Tumor splicing burden predicts treatment response in kidney cancer

Researchers at City of Hope® and TGen (part of City of Hope) have identified a significant correlation between a tumor's "splicing burden" and its clinical response to treatment for metastatic renal cell carcinoma (mRCC).

5 May 2026

Single protein shapes both brain connectivity and vascular stability

The communication network in the developing brain builds when neurons partner up to form contact points called synapses, allowing signals to pass form one cell to another.

27 Apr 2026

Stem cell model recreates early human embryo with yolk sac

For the first time, a stem cell model has produced a structure resembling an early human embryo with a yolk-sac-like structure, from a single starting stem cell population and without direct genetic manipulation.

21 Apr 2026

Early genomic testing prevents years of inconclusive visits for pediatric patients

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026

New gene target offers hope for fatal infant cardiomyopathy

Researchers from the Keck School of Medicine of USC have made an important advance toward understanding-and potentially treating-a rare cardiomyopathy (heart muscle disease) that is present from birth.

20 Apr 2026

How next-generation proteomics is decoding the language of life

This review examines how next-generation protein sequencing and analysis technologies are expanding proteomics beyond the limits of mass spectrometry, especially for detecting proteoforms and analyzing proteins at single-molecule resolution. It highlights maturing fluorescence-based and nanopore-based platforms that could complement existing methods and deepen insight into protein sequence, structure, function, and modification states.

13 Apr 2026

Mutations in RNU2-2 gene linked to neurodevelopmental disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2026

Toxic RNA drives progressive heart damage in myotonic dystrophy

Myotonic dystrophy type 1 (DM1) is the most common cause of adult-onset muscular dystrophy, a genetic disorder that leads to muscle weakness and wasting, but also affects the brain, the gastrointestinal tract and the heart.

3 Apr 2026

Study identifies a common hidden genetic cause of neurodevelopmental disorder in children

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by intellectual disability, global developmental delay, and frequent seizures. The study suggests this condition may be the most prevalent known recessive neurodevelopmental disorder currently diagnosable by sequencing, with RNA data pointing to a loss-of-expression mechanism.

2 Apr 2026

Genomic study advances prioritization of variants in cancer diagnostics

Hiroshima University researchers have developed a practical framework to identify candidate pathogenic variants hidden among the large number of variants of uncertain significance (VUS) detected in comprehensive genomic profiling (CGP) of cancers.

31 Mar 2026

DNASE1L2 identified as a dynamic biomarker for TB progression

Tuberculosis (TB) remains one of the world's most serious public health threats, with approximately one-quarter of the global population infected with Mycobacterium tuberculosis. While most infections remain latent (LTBI), individuals with LTBI are at risk of progressing to active TB and potentially becoming new sources of transmission.

31 Mar 2026

Predicting cancer behavior through splicing fingerprints

Cancer is caused by faulty genes, but what also shapes a cancer cell's behaviour is how a gene's instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive.

13 Mar 2026

FOXJ3 gene identified as the critical link between abnormal brain development and epilepsy

Researchers have discovered that mutations in the FOXJ3 gene act as a "master switch" failure, disrupting how the brain builds its layers and leading to FCD, a primary cause of drug-resistant epilepsy.

9 Mar 2026

Researchers find novel path to treat Rett syndrome

A team of researchers at Texas Children's Duncan Neurological Research Institute (NRI) and Baylor College of Medicine report in Science Translational Medicine a potential new approach to treat Rett syndrome – offering early promise for a rare neurodevelopmental disorder that currently has no cure.

5 Mar 2026