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Prenatal editing halts progression of Hurler syndrome in pre-clinical model
US researchers used an AAV9 vector to edit a single base mutation in a prenatal mouse model, halting progression of Hurler syndrome.
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Genetic Analysis
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Why the system for biospecimen procurement is broken
Dr Robert Hewitt explains why the need of biospecimen brokers to protect their commercially-sensitive information can result in significant issues for industry end-users and the results of their research.
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Exome sequencing reveals genetic drug target for OCD
Following a whole exome sequencing study, researchers have found that mutations in the SLITRK5 gene could be targeted by drugs to treat OCD.
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Study of liver cancer reveals MAGEA3 gene as new drug target
A study has shown that blocking the gene expression of MAGEA3 in liver cancer cells prevents the tumour from proliferating.
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The potential of epigenomic medicine in cardiology
Advances in genomic medicine are playing an increasingly important role in the field of cardiology. Better analysis and understanding of patient genomic and epigenomic information can enable more personalised patient treatment and medical intervention. Here, Professor John Giannios considers the potential to use genomic medicine to prevent, monitor, diagnose and…
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Reference genome comparison finds exome variant discrepancies
Scientists have found differences in 206 genes between the GRCh38 (hg38) and GRCh37 (hg19) human reference genomes.
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Computational method developed to map chromosome folding in 3D
Researchers created their new method to analyse chromosomes in 3D, revealing how misconfigurations play a role in cancer.
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Genomic analysis reveals cellular cause of type 1 diabetes
Combining two genomic methodologies, researchers have shown that pancreatic exocrine cells are implicated in type 1 diabetes.
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Brochure: Diabetes Solutions
Solutions to aid understanding of cellular and molecular pathways in diabetes and translate these findings into prevention and treatment strategies.
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Genetic profile of skeleton osteocytes mapped for first time
Researchers have revealed which genes are switched on or off in osteocytes, a bone cell found in the skeleton.
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CRISPR reveals genes involved in zebrafish spinal cord regeneration
A CRISPR-Cas9 method has been used to identify which genes play a role in repairing zebrafish spinal cord injuries.
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UK Government to fund £37 million into genomics projects
UK Health Secretary Matt Hancock has announced £37 million of funding for genomics and data projects to support the life sciences sector.
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Gene changes caused by Spike protein could explain long COVID
Scientists have shown that the SARS-CoV-2 Spike protein can initiate gene expression changes, potentially explaining long COVID symptoms.
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Study points to treatment approaches for advanced small-cell lung cancer
Having sequenced samples of advanced small-cell lung cancer, researchers have identified patterns linked to resistance to certain therapies.
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Alliance to create atlas of human genetic variants launched
The Atlas of Variant Effects Alliance will develop a map of human genetic variants to advance the understanding and treatment of disease.