The following news articles were published in 2020.
EEF1A2 mutations in a human neurodevelopmental disorder
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
A study published in Acta Neuropathologica identifies mutations in NRROS as a novel microgliopathy. Feb 2020.
Shining a Light on Labrune syndrome
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
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.