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New Biomarker Offers Early Detection of ALS and FTD

Two progressively degenerative diseases, amyotrophic lateral sclerosis (ALS, commonly known as Lou Gehrig's disease) and frontotemporal dementia (FTD, recently in the news with the diagnoses of actor Bruce Willis and talk show host Wendy Williams), are linked by more than the fact that they both damage nerve cells critical to normal functioning -; the former affecting nerves in the brain and spinal cord leading to loss of movement, the latter eroding the brain regions controlling personality, behavior and language.

19 Mar 2024

Study Reveals Genetic Mechanism Behind 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.

29 Feb 2024

Researchers Reveal Evolutionary Origin of Mysterious Immune System Molecule in Humans

Biological systems can behave as siblings in several ways, including by borrowing something and never giving it back.

31 Jan 2024

Gene Splicing Affects CD20 Expression and Response to Cancer Immunotherapy

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

17 Nov 2023

The Role of CRISPR-Cas9 in Treating Primary Immunodeficiency Disorders

Severe Combined Immunodeficiencies (SCIDs) encompass a collection of serious primary immunodeficiency disorders primarily instigated by genetic mutations that disrupt the development of T-cells.

30 Oct 2023

Novel Replacement Strategy Opens the Door to Therapeutic Interventions for Genomic Diseases

Severe Combined Immunodeficiencies (SCIDs) are a group of debilitating primary immunodeficiency disorders, primarily caused by genetic mutations that disrupt T-cell development.

27 Oct 2023

Disclosing the Key Role of Mitofusin 2 Cellular Makeup in Interconnecting Organelles Within Cells

Researchers at IRB Barcelona, the University of Barcelona (UB), VIMM, and the University of Padua unveil the key role of Mitofusin 2 cellular makeup in interconnecting organelles within cells.

29 Jun 2023

New Genetic Mutations Linked to Canine Bladder Cancers Identified

Researchers have identified new genetic mutations linked to a subset of canine bladder cancers. Their findings have implications both for early cancer detection and for targeted treatments in dogs and humans.

26 Apr 2023

Pancreatic islet microexons play key role in islet function and glucose homeostasis

When cells copy DNA to produce RNA transcripts, they include only some chunks of genetic material known as exons and throw out the rest.

10 Feb 2023

New tool advances potential means to deliver gene therapy

Researchers from Johns Hopkins Medicine claim to have successfully “slid” genetic instructions into a cell and produced essential proteins that were lacking from those cells using a cell’s normal process for creating proteins.

1 Nov 2022

NATA accreditation for BGI Australia to perform whole exome sequencing

The National Association of Testing Authorities (NATA) has accredited BGI Australia’s lab to conduct clinical Whole Exome Sequencing in Australia, opening the door for the multinational life sciences company to offer clinical sequencing services for locating potential disease-causing genetic changes.

25 Oct 2022

New computer model helps identify mutations that drive tumor growth

Cancer cells can have thousands of mutations in their DNA. However, only a handful of those actually drive the progression of cancer; the rest are just along for the ride.

22 Jun 2022

Novel molecular pathway shared by ALS and frontotemporal dementia identified

Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.

1 Mar 2022

Researchers identify a novel pathomechanism leading to Usher syndrome

Human Usher syndrome (USH) is the most common form of hereditary deaf-blindness. Sufferers can be deaf from birth, suffer from balance disorders, and eventually lose their eyesight as the disease progresses.

12 Jul 2021

Researchers systematically analyze alternative splicing in the family of glutamate receptors

Alternative splicing can lead to the formation of numerous protein variants. For the first time, alternative splicing has now been systematically analysed for the family of glutamate receptors.

17 Jun 2021

New gene therapy could help treat Duchenne muscular dystrophy

Researchers from UT Southwestern used a new kind of gene therapy to successfully treat mice with Duchenne muscular dystrophy (DMD), distinctively employing CRISPR-Cas9-based tools to restore a large section of the dystrophin protein missing in several DMD patients.

3 May 2021

Study reveals process behind key cellular change in amyotrophic lateral sclerosis

A research team has discovered the trigger of a crucial cellular change in amyotrophic lateral sclerosis (ALS)—a form of motor neuron disease.

5 Mar 2021

Researchers identify gene variant associated with childhood asthma

Researchers at Henry Ford Health System, as part of a national asthma collaborative, have identified a gene variant associated with childhood asthma that underscores the importance of including diverse patient populations in research studies.

1 Mar 2021

Researchers identify mechanism that prevents death of neurons

When our neurons -- the principle cells of the brain -- die, so do we. Most neurons are created during embryonic development and have no "backup" after birth.

27 Jul 2020

Bioinformaticians reveal previously unknown features of genes involved in brain functioning

In a recent study of genes involved in brain functioning, their previously unknown features have been uncovered by bioinformaticians from the Moscow Institute of Physics and Technology and the Institute of Mathematical Problems of Biology, RAS. The findings are reported in PLOS One.

10 Jul 2020