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SARS-CoV-2's microRNAs may have promoted its jump to humans

A new study uses machine learning to explore the small microRNAs (or miRNAs) of SARS-CoV-2 that may determine the virus's ability to successfully infect humans by altering the course of transcriptional events.

1 Dec 2020

Scientists unlock crucial molecular details regarding tau's activity

Frontotemporal lobar degeneration (FTLD) is a type of dementia that appears earlier in life than Alzheimer's disease (AD).

15 Sep 2020

Scientists elucidate cause for Parkinson's disease and identify potential treatments

In a seven-year research effort, an international team of scientists has clarified the cause for certain genetic forms of Parkinson's disease, and has identified potential pharmacological treatments.

12 Sep 2020

Targeted therapy can provide benefits to lung cancer patients with specific gene mutations

A targeted therapy called capmatinib can provide significant benefits to patients who have advanced lung cancer with specific gene mutations, according to recently published results from a phase two clinical trial.

8 Sep 2020

FDA approves new treatment option for patients with rare Duchenne muscular dystrophy mutation

Today, the U.S. Food and Drug Administration granted accelerated approval to Viltepso (viltolarsen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.

12 Aug 2020

SARS-CoV-2 a "swarm" of mutant viruses

In this new study, the virus was serially passaged in independent cell types in a controlled environment. The researchers found that the virus rapidly adapts to the changing conditions in culture by selecting for pre-existing species.

12 Aug 2020

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020

Study shows how G406R single point mutation of the Cav1.2 channel confers autism

Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory proteins that control arrays of cellular pathways.

3 Aug 2020

Novel short ACE2 isoform may influence SARS-CoV-2 susceptibility

A study led by researchers at the University of Southampton, UK, has identified a novel short isoform of the full-length receptor that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) uses to gain entry to host cells.

3 Aug 2020

Analysis of the SARS-CoV-2 proteome via visual tools

Now, a new study published on the preprint server bioRxiv* in July 2020 shows how this can be advanced at a greater speed by combining experimental results with homology models obtained by high-throughput pipelines. This will help produce new hypotheses that will show novel druggable targets for effective drug development.

21 Jul 2020

Targeted therapy tepotinib shows durable response in NSCLC patients with METex14 skipping mutation

Patients with advanced non-small cell lung cancer (NSCLC) and the MET exon 14 (METex14) skipping mutation had a 46.5% objective response rate to the targeted therapy drug tepotinib, as shown in a study published today in the New England Journal of Medicine and presented at the 2020 American Society of Clinical Oncology Annual Meeting ASCO20 Virtual Meeting (Abstract 9556 - Poster 322) by researchers from The University of Texas MD Anderson Cancer Center.

29 May 2020

Study pinpoints electrophysiological mechanism behind upper motor neuron disease

Scientists from Northwestern Medicine and the University of Belgrade have pinpointed the electrophysiological mechanism behind upper motor neuron disease, unlocking the door to potential treatments for amyotrophic lateral sclerosis and other neurodegenerative diseases, such as Hereditary Spastic Paraplegia and Primary Lateral Sclerosis.

21 May 2020

Takeda to present oncology pipeline data at upcoming virtual scientific congresses

Takeda Pharmaceutical Company Limited today announced that the company will present data from its expanding oncology pipeline and established product portfolio at two upcoming virtual scientific congresses: the 56th Annual Meeting of the American Society of Clinical Oncology, May 29-31 and the 25th Virtual Congress of the European Hematology Association, June 11-14.

18 May 2020

Researchers develop a faster visualization method for constructing pan-genome subgraphs

Kadir Dede and Dr. Enno Ohlebusch at Ulm University in Germany have devised a method for constructing pan-genome subgraphs at different granularities without having to wait hours and days on end for the software to process the entire genome.

23 Apr 2020

Some genetic sequencing misses out large parts of the genome

A study of patient samples has found that more than a quarter of genes are missed in genetic sequencing procedures.

7 Jan 2020

OGT develops targeted NGS panel for constitutional cytogenetics research

Oxford Gene Technology, A Sysmex Group Company, has developed a breakthrough targeted NGS panel for constitutional cytogenetics research. The new CytoSure NGS panel—launching early in 2020—will combine the strengths of microarrays and NGS to deliver a comprehensive all-in-one assay.

From Oxford Gene Technology 11 Dec 2019

Researchers reveal molecular cause for severe multi-organ disorder

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare disease.

18 Jul 2019

New drug provides hope for patients with Duchenne muscular dystrophy

The results from three clinical trials have shown that a new drug can successfully delay the progression of Duchenne muscular dystrophy.

10 Jul 2019

Study demonstrates viability of gene editing strategy for recessive dystrophic epidermolysis bullosa

A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras, Universidad Carlos III de Madrid, the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz have led a study which demonstrates the viability of a gene editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly chilidren) with the tool CRISPR/Cas9 in preclinical models with this disease.

8 Apr 2019

Researchers develop new method to boost efficiency of CRISPR gene editing in DMD

Scientists have developed a method to boost the efficiency of CRISPR gene editing in Duchenne muscular dystrophy (DMD), according to a study that could have implications for optimizing gene therapies for other diseases.

7 Mar 2019