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Genomics week in brief: Week ending 24th April

We have gathered all the best and latest genomics news and research from the past week, and put it here, […]

Antisense therapy for MECP2 duplication syndrome

A preclinical study has provided experimental evidence that supports the use of antisense oligonucleotides as a strategy to treat MECP2 […]

A well camouflaged zebra

For my undergraduate research project, I studied a rare neurological disease known as Landau-Kleffner Syndrome. It was then that I […]

Rapid Whole-Genome Sequencing-Informed Precision Medicine for Critically Ill Children by Stephen F. Kingsmore

At the Festival of Genomics and Biodata 2021, we were joined by Stephen F. Kingsmore (President and CEO, Rady Children’s […]

Gene therapy in sickle cell disease patients

A team at Boston Children’s Hospital have reported on the success of their virus gene therapy in six sickle cell […]

Round-up: COVID-19 November 2020 (Part Two)

Despite the rise in COVID-19 cases and deaths, hopes for a vaccine have become more of a reality. Here, we […]

Intersex: When binary notions simply don’t fit

The term ‘gender’ can be subjective. It is often seen as a social construct that each individual has their own […]

All Wales, All the way!

Megan Fealey, NovaSeq Implementation Lead, and Joseph Halstead, Bioinformatician, from All Wales Medical Genomics Service (AWMGS) joined us to discuss […]

Potential drug targets for paediatric germ cell tumours

Researchers have performed a comprehensive genetic analysis and identified potential drug targets for paediatric germ cell tumours (GCTs). Germ cell […]

Whole-exome sequencing as a tool to detect inborn errors of metabolism

A study published in Nature Medicine has demonstrated the potential of whole-exome sequencing (WES) in detecting inborn errors of metabolism […]