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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

New review explains how circular RNAs could unlock fat browning therapies

A Cell Death & Disease review synthesizes preclinical evidence that circular RNAs regulate adipose browning and metabolic pathways through microRNA interactions, protein binding, and organelle-linked stress mechanisms. It highlights their biomarker and therapeutic potential in obesity and type 2 diabetes while underscoring key translational challenges, including delivery specificity and human validation.

26 Feb 2026

Study identifies mitochondrial circular RNAs in aging and senescence

A new research paper was published in Volume 18 of Aging-US on February 10, 2026, titled "Aging-associated mitochondrial circular RNAs."

24 Feb 2026

MULTI-evolve accelerates protein engineering with machine learning

The search space for protein engineering grows exponentially with complexity. A protein of just 100 amino acids has 20^100 possible variants-more combinations than atoms in the observable universe.

19 Feb 2026

Study explores how reversible RNA editing could transform future cardiovascular medicine

This mini-review synthesises evidence showing that adenosine-to-inosine RNA editing plays an important regulatory role in cardiovascular development, cellular homeostasis, and disease biology. It highlights emerging links between dysregulated RNA editing and cardiovascular conditions while outlining biomarker potential and reversible RNA-editing therapeutic strategies that remain under investigation.

15 Feb 2026

Alternative splicing of DOC2A gene shown to drive schizophrenia risk

In an important new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia.

16 Jan 2026

Polyamines reshape protein phosphorylation to guide key cellular fate decisions

Polyamines are small molecules naturally present in all cells and are critical in guiding cellular decisions, whereas an alteration in the abundance of these metabolites is invariably observed in pathological scenarios such as cancer or aging.

14 Jan 2026

Study shows biosynthetic method to make low-calorie sugar substitute

From saccharin in the 19th century to stevia and monk fruit in the 21st, researchers and the food industry have long sought a sweetener that delivers the taste of sugar without its drawbacks-excess calories, tooth decay, and heightened risk for obesity, insulin resistance, and diabetes.

12 Jan 2026

Study identifies PUF60 as a critical vulnerability in triple negative breast cancer

Researchers at University of California San Diego have identified a previously unrecognized treatment target for triple‑negative breast cancer (TNBC), the most aggressive subtype of breast cancer.

12 Jan 2026