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Innovative super minigene to revolutionize spinal muscular atrophy research

Ravindra Singh has spent years studying a gene that when missing or mutated causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children.

13 Mar 2024

Research identifies genetic change associated with human tail loss

A genetic change in our ancient ancestors may partly explain why humans don't have tails like monkeys, finds a new study led by researchers at NYU Grossman School of Medicine.

28 Feb 2024

Novel splicing mechanism for short introns discovered

Researchers confirm that the established pre-mRNA splicing mechanism that appears in textbooks cannot work in a subset of human short introns: A novel SAP30BP–RBM17 complex-dependent splicing has been uncovered.

15 Feb 2024

Researchers discover mechanism that protects tissue after faulty gene expression

The genetic material, in the form of DNA, contains the information that is crucial for the correct functioning of every human and animal cell.

2 Feb 2024

Arxspan BioDrive: A Versatile Solution for Molecular Biology

In this interview, NewsMedical speaks to Arxspan about its new all-in-one solution for molecular biology.

From Arxspan 5 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

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

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

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

Urban jungle: How city living may impact mental health

Researchers explore the effects of the urban environment on adult mental health.

19 Jun 2023

The role of RNA splicing in one of the deadliest forms of pancreatic cancer

In this interview, we spoke to Adrian Krainer, a Professor at Cold Spring Harbor Laboratory, about his latest research into the role of RNA splicing in one of the deadliest forms of pancreatic cancer.

22 May 2023

New model contributes to the understanding of huge variety of genome sizes in nature

A new model developed at Tel Aviv University offers a possible solution to the scientific question of why neutral sequences, sometimes referred to as "junk DNA", are not eliminated from the genome of living creatures in nature and continue to exist within it even millions of years later.

22 Feb 2023

NEJM study shows hidden genetic anomaly behind common late-onset cerebellar ataxia

Researchers at the University of Miami Miller School of Medicine, McGill University and other institutions have found that a well-concealed genetic variation in the gene FGF14, called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement.

16 Dec 2022