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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

Single CRISPR treatment can safely and stably correct genetic disease

Researchers at Duke University have shown that a single systemic treatment using CRISPR genome editing technology can safely and stably correct a genetic disease -- Duchenne muscular dystrophy (DMD) -- for more than a year in mice, despite observed immune responses and alternative gene editing outcomes.

18 Feb 2019

Study points to potential new biomarker and drug target for amyotrophic lateral sclerosis

Research led by stem cell scientists at Harvard University points to a potential new biomarker and drug target for amyotrophic lateral sclerosis, a neurological disease that is extremely difficult to diagnose and treat.

16 Jan 2019

Research may pave way for development of potent weapons against cancer

Despite significant advances in cancer research, the disease continues to exact a devastating toll. Because cancer is a disease of the body's own cells, which mutate and develop under evolutionary pressure, conventional treatments like chemotherapy and radiation often leave behind a residue of resistant cells that go on to expand and wreak havoc.

27 Nov 2018

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalized treatment in the future.

16 Nov 2018

Study: Targeting specific genomic mutation in breast cancer improves survival

Targeting a common mutation in patients with hormone receptor positive (HR+) HER2 negative (HER2-) advanced breast cancer with the alpha-specific phosphatidylinositol-3-kinase (PI3K) inhibitor alpelisib significantly improves progression-free survival, according to late-breaking results reported at ESMO 2018.

22 Oct 2018

Deciphera presents Phase 1 clinical results of DCC-2618 in patients with gastrointestinal stromal tumors

Deciphera Pharmaceuticals, Inc., a clinical-stage biopharmaceutical company focused on addressing key mechanisms of tumor drug resistance, announced the presentation today of updated preliminary results from its ongoing Phase 1 clinical study of DCC-2618, the company's broad-spectrum KIT and PDGFRα inhibitor, in patients with gastrointestinal stromal tumors as a proffered paper presentation at the European Society of Medical Oncology 2018 Congress in Munich, Germany.

22 Oct 2018

New blood test may detect early-stage lung cancer when surgical intervention is not possible

Non-small-cell lung carcinoma is often fatal because most cases are not diagnosed until they are so advanced that surgical intervention is no longer possible. To improve outcomes researchers are developing a blood test to detect lung cancer earlier in the disease.

8 Oct 2018

Pfizer announces FDA approval of VIZIMPRO for first-line treatment of EGFR-mutated metastatic NSCLC

Pfizer Inc. today announced that the U.S. Food and Drug Administration has approved VIZIMPRO [vih-ZIM-pro] (dacomitinib), a kinase inhibitor for the first-line treatment of patients with metastatic non-small cell lung cancer with epidermal growth factor receptor exon 19 deletion or exon 21 L858R substitution mutations as detected by an FDA-approved test.

28 Sep 2018

Urine exRNA may be source of biomarkers for muscular dystrophy

Massachusetts General Hospital researchers have found that extracellular RNA in urine may be a source of biomarkers for the two most common forms of muscular dystrophy, noninvasively providing information about whether therapeutic drugs are having the desired effects on a molecular level.

26 Sep 2018

Exon News and Research

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

Some genetic sequencing misses out large parts of the genome

OGT develops targeted NGS panel for constitutional cytogenetics research

Researchers reveal molecular cause for severe multi-organ disorder

New drug provides hope for patients with Duchenne muscular dystrophy

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

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

Single CRISPR treatment can safely and stably correct genetic disease

Study points to potential new biomarker and drug target for amyotrophic lateral sclerosis

Research may pave way for development of potent weapons against cancer

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

Study: Targeting specific genomic mutation in breast cancer improves survival

Deciphera presents Phase 1 clinical results of DCC-2618 in patients with gastrointestinal stromal tumors

New blood test may detect early-stage lung cancer when surgical intervention is not possible

Pfizer announces FDA approval of VIZIMPRO for first-line treatment of EGFR-mutated metastatic NSCLC

Urine exRNA may be source of biomarkers for muscular dystrophy

New assay may help improve both sarcoma diagnosis and treatment

New CRISPR technology may help eliminate mutated gene sequence

Hearing partially restored in deaf lab mice using novel therapy

KFU medical departments seek to find treatments for hereditary syndromes

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