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C9ORF72

This is a cross section MRI of a patient with ALS.

Featured Genetics Open Neuroscience Articles

·October 16, 2013·6 min read

‘Individualized’ Therapy for the Brain Targets Specific Gene Mutations Causing Dementia and ALS

Using neurons created from iPS cells derived from people with ALS, researchers develop a new drug which appears to halt the impact of the genetic mutations in some forms of ALS and dementia.

This image shows a motor neuron which was created from stem cells.

Featured Genetics

·March 6, 2014·4 min read

3D Changes in DNA May Lead to a Genetic Form of ALS

Researchers discover how a genetic code variation in the C9orf72 gene alters the shape of DNA, making cells more vulnerable to stress and apoptosis.

Featured Genetics Neurology Neuroscience

·June 16, 2021·2 min read

A Distinctive Inflammatory Signature Found in a Genetic Form of ALS

Researchers found an increased inflammatory signal in patients with the C90rf72 subtype of ALS. The increased inflammatory biomarkers could be found in peripheral serum tests.

Featured Genetics Neurology

·October 19, 2015·4 min read

ALS and Frontotemporal Dementia Linked to Nuclear Transport Problems

A new study points to a potential new target to treat neurodegenerative diseases.

Featured Genetics Neurology Neuroscience

·July 8, 2021·4 min read

ALS: Study Shows Role of Brain’s Immune Cells

Hyperactive microglia immune cells may play a significant role in the development of ALS, researchers report.

Featured Genetics Neurology

·August 20, 2020·5 min read

Autoimmune Diseases in ALS Patients Linked to Genetic Mutation

Study reveals why some people with ALS are prone to developing autoimmune diseases. A genetic mutation that decreases the expression of C9orf72 causes the stimulation of interferon genes (STING) protein to become hyperactive. The hyperactivity leads to increased production of interferons. This can lead to systemic inflammation and the development of autoimmune diseases.

Featured Genetics Neurology

·March 12, 2018·3 min read

CRISPR Helps Find New Genetic Suspects Behind ALS and FTD

Using CRISPR, researchers have identified a new set of genes that may be implicated in both ALS and frontotemporal dementia.

This shows a woman doing crossfit exercise

Featured Genetics Neurology Neuroscience Open Neuroscience Articles

·June 12, 2021·6 min read

Frequent Strenuous Exercise Increases the Risk of Developing ALS in Certain People

Researchers have identified a causal link between strenuous exercise and ALS in people with genetic risk factors for the neurodegenerative disease. The study reports intense physical exercise contributes to motor neuron injury in those susceptible to ALS.

Featured Genetics Neurology Neuroscience Open Neuroscience Articles

·October 16, 2019·4 min read

Frontotemporal dementia is associated with alterations in immune system function

Researchers discovered increased inflammatory activity in a subgroup of patients with frontotemporal dementia. The increased inflammation was indicated by elevated levels of cytokines known to increase inflammatory response and decreased levels of IL-10, which reduces inflammation. The inflammation was associated with Parkinsonism's symptoms and rapid cognitive and functional decline. The study also revealed patients with FTD are less likely to develop cancer.

Featured Genetics Neurology Open Neuroscience Articles

·December 8, 2017·3 min read

Genetic Mutations Cause ‘Vicious Cycle’ in Most Common Form of ALS

Researchers reveal a repeat element in the DNA of C9orf72 gene becomes toxic when faced with starvation, toxins and viral infection.

Featured Neurology Neuroscience

·May 15, 2020·4 min read

Gut microbiome influences ALS outcomes

Study reveals a new gut-brain connection in amyotrophic lateral sclerosis (ALS). The gut microbiome could influence the severity of the neurodegenerative disease. Altering the bacteria in the gut may prevent or improve symptoms of ALS.