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The UK is developing a new approach to patient-centric precision medicine research

Sano Genetics, Zetta Genomics and Genomics England have partnered to develop a novel system to allow rare disease patients and […]

Genetics Unzipped Podcast: Involving Patients in Genomics Research

“Nothing about me without me!” is the rallying cry for patient involvement in research. In the latest episode of Genetics […]

“Our geneticist could only find three published articles about the GRIN1 gene at the time” – Interview with Jillian Hastings Ward, Chair of the Participant Panel at Genomics England

Jillian Hastings Ward is Chair of the Participant Panel at Genomics England. The Panel acts as an advisory body to the Genomics England board to ensure that the data collected by the 100,000 Genomes Project is being used for the best interests of the participants.

“Usually, you’re relatively alone in your rare disease community” – Interview with Shelley Simmonds, Patient Advocate for rare diseases

Shelley Simmonds is a patient advocate whose son has Duchenne muscular dystrophy. Duchenne causes muscle weakening and wasting and is […]

Cancer Genomics: From Diagnosis to Treatment

Introduction The first publication of cancer genome sequencing was in 2006, whereby more than 13,000 genes involved in breast and […]

Does genomics hold the key for African cancer care?

Researchers recently explored whether the genetic landscape of tumours could be captured through blood collection in African women with breast […]

Genome Giants: Heidi Rehm – Chief Genomics Officer, Mass General Hospital

Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at […]

JAG2 Mutation – New cause for Muscular Dystrophy

A mutation in a previously unexamined Notch ligand, JAG2, is found to cause a rare form of muscular dystrophy (MD) […]

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 […]

Young people can make informed decisions about genome sequencing

A recent study, published in the European Journal of Medical Genetics, has explored the understanding, attitudes and involvement in decision-making […]