Molecular Pathology & Genomics

Nanopore sequencing for rare genetic disorders

Using nanopore sequencing investigators can accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing.

My lab: encouraging and supporting research

Professor Stephen Fôn Hughes gives a guided tour of his laboratory in Wrexham, North Wales.

Characteristics of stable vitiligo skin disease

A new study reveals the unique cell-to-cell communication networks that can perpetuate inflammation and prevent repigmentation in patients with vitiligo disease.

Early disease detection using DNA droplets

A group of scientists has developed a computational DNA droplet with the ability to recognise specific combinations of chemically synthesised microRNAs (miRNAs) that act as biomarkers of tumours.

British Journal of Biomedical Science: second quarter 2022

Deputy Editor Dr Mark Hajjawi gives a round-up of the papers published over recent months.

AI potential for breast cancer screening

A major new study shows that artificial intelligence (AI) is a promising tool for breast cancer detection in screening mammography programmes.

Revolutionary thinking

Another step has been taken in the battle against antimicrobial resistance with the development of a synthetic antibiotic.

Eye scanner targets neurodegenerative diseases

In a large-scale EU project, the capabilities of optical coherence tomography (OCT) and Raman spectroscopy have been combined in a novel eye scanner. Using this, it is possible to add molecular information to the visualisation of the internal structure of the eye .

Expanding the target range of crispr/cas systems

US researchers have created genome editing technology that allows for variations in target DNA but retains local specificity.

My lab: A genomics unit in Wales

Joanne Watkins, Senior Biomedical Scientist and Deputy Head of Pathogen Genomics Unit, gives a guided tour of her laboratory in Cardiff.

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