Splicing News and Research

RSS

New insights into the interplay between prions and TDP-43 in neurodegenerative pathology

Neurodegenerative diseases are characterized by the deposition of clumped proteins in the brain and progressive neuronal cell death.

4 Dec 2023

Study identifies how three novel genes cause neurodevelopmental disorders

An international study group led by researchers of Children's Hospital of Philadelphia (CHOP) have identified how three novel genes cause neurodevelopmental disorders.

28 Nov 2023

Exonate announces successful completion of Phase Ib/IIa trial in diabetic macular oedema

Lead ophthalmology candidate EXN407 has potential to be the first topical treatment for diabetic retinopathy/diabetic macular oedema.

28 Nov 2023

Gene splicing determines CD20 levels and response to monoclonal antibody therapy

Immunotherapies that target the CD20 antigen have revolutionized how patients with a variety of blood cancers and hematologic disorders have been treated.

16 Nov 2023

Multi-ancestry study reveals 187 new genetic risk factors for prostate cancer

In a comprehensive multi-ancestry GWAS meta-analysis, researchers identified 451 risk variants for prostate cancer, including 187 new variants, demonstrating the utility of such studies across diverse populations. This analysis not only increased understanding of genetic risk factors but also differentiated between aggressive and non-aggressive prostate cancer types, underscoring the potential of genetic risk scoring in guiding screening and early detection strategies.

12 Nov 2023

Can adding RNA sequencing to germline genetic testing improve accuracy and clinical sensitivity over time compared to DNA sequencing alone?

Concurrent sequencing of DNA and RNA to detect the predisposition to hereditary cancer.

8 Nov 2023

Study provides insights into the epidemiology and genetics of clonal hematopoiesis

A comprehensive new study from deCODE genetics, a subsidiary of Amgen, published today in Nature Genetics, provides insights into the epidemiology and somatic and germline genetics of clonal hematopoiesis.

7 Nov 2023

Unsupervised genome-wide variant effect predictor based on pretraining of DNA language models

The Genomic Pre-trained Network (GPN), a multispecies model developed to learn genome-wide variant effects.

31 Oct 2023

Gene therapy breakthrough: Scientists develop method to deliver larger genes to target cells

Gene therapy currently represents the most promising approach for the treatment of hereditary diseases. Yet despite significant breakthroughs in recent years, there are still a number of hurdles that hinder the wider application of gene therapies.

24 Oct 2023

Researchers create interpretable neural network to predict complex biological outcomes

A team of New York University computer scientists has created a neural network that can explain how it reaches its predictions.

6 Oct 2023

Unlocking the code: BigRNA's deep learning model predicts RNA behavior

Researchers have developed BigRNA, a groundbreaking deep learning model capable of predicting RNA behavior, including tissue-specific expression and splicing, directly from genomic DNA sequences. The model excels in identifying pathogenic variants and could be a game-changer in the development of personalized RNA-based therapies for treating genetic diseases.

28 Sep 2023

Unlocking the secret drivers of deadly pancreatic cancer: New target offers hope for treatment

Researchers identify a super-enhancer-regulated RNA-binding protein cascade that drives the growth of pancreatic ductal adenocarcinoma, a deadly form of pancreatic cancer. The discovery offers a promising new avenue for targeted therapy, potentially sidestepping severe side effects associated with other treatments.

10 Sep 2023

Study explores the role of sex on mRNA and protein levels and its genetic regulation in brain

Researchers investigated the impact of biological sex on protein levels and its genomic control by analyzing 1,277 proteomes of the brain.

4 Sep 2023

Non-traditional gene fusions in luminal breast cancer: A new target for therapy

A new editorial paper was published in Oncotarget's Volume 14 on June 12, 2023, entitled, "Are cis-spliced fusion proteins pathological in more aggressive luminal breast cancer?"

21 Aug 2023

Next-generation sequencing provides novel insights into the mechanisms underlying autism and myotonic muscular dystrophy

The pathomechanistic connection between autism and myotonic muscular dystrophy type 1.

16 Aug 2023

UCLA study finds new way to protect livers during transplantation

UCLA-led research describes the role that a protein called CEACAM1 plays in protecting the liver from injury during the transplantation process, potentially improving transplant outcomes.

2 Aug 2023

Cryo-EM reveals structure of key enzyme involved in protein production

Transfer RNAs (tRNAs) are among the most common types of RNA in a cell and are indispensable for protein production in all known organisms.

13 Jul 2023

The ethics of nanobiotechnology: A call for global regulation

Prosthetics moved by thoughts. Targeted treatments for aggressive brain cancer. Soldiers with enhanced vision or bionic ears.

13 Jul 2023

2023 recipients of the Diversity in Lupus Research Awards announced

The Lupus Research Alliance is pleased to announce the 2023 recipients of the Career Development and Postdoctoral Awards to Promote Diversity in Lupus Research.

12 Jul 2023

New therapy to mitigate fragile X syndrome may be on the horizon

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 2023