Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Latest News

The following news articles were published in 2020.

EEF1A2 mutations in a human neurodevelopmental disorder

eEF1A2 protein with D252H mutation
In a publication in the journal Human Molecular Genetics, Prof Cathy Abbott and her team describes a mouse model of a human neurodevelopmental disorder that can recapitulates a mutation seen in humans. March 2020

Mutations in NNROS gene cause an early onset, lethal microgilopathy

magnetic resonance image of the brain
A study published in Acta Neuropathologica identifies mutations in NRROS as a novel microgliopathy. Feb 2020.

Shining a Light on Labrune syndrome

Simon presents to IGMM staff
On 25 February, scientists, staff and students from across the Institute and wider University were fortunate enough to hear first-hand from a family affected by Labrune Syndrome, a very rare genetic condition: February 2020

University of Edinburgh team identify possible trigger of devastating spinal cord inflammation

Two ladies in the Anne Rowling Clinic
A report published in this month’s Lancet Neurology shows how a novel ultrasensitive assay can help define an important new side effect of interferon-α therapy. January 2020.

Dissection of the genetic basis of childhood lupus

A large genetic panel analysis published in Lancet Rheumatology provides important new insights into the molecular architecture of childhood-onset lupus. January 2020

Characterisation of IFIH1 gain-of-function

The largest published study to date defines the phenotypic and molecular landscape associated with IFIH1 gain-of-function. January 20.

Open approach to animal research earns accolade

The University’s work on communicating how animals are used in research has won a national award: December 2019