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

Latest News

The following news articles were published in 2020.

COVID-19 classifiers identified through Ultra-high-throughput clinical proteomics

Research involving CGEM groups led by Prof David Porteous and Dr Riccardo Marioni, describing an ultra-high-throughput platform for COVID-19 biomarker discovery published in Cell Systems. June 2020

The role of SORL1 in Alzheimer’s Disease

A recent award from the charity Alzheimer’s Research UK to Dr Kathy Evans, will seek to understand the link between the gene SORL1 and Alzheimer’s Disease. June 2020

Zebrafish model of U8 snoRNA deficiency provides new insights into the pathology of leukoencephalopathy with calcification and cysts (Labrune syndrome)

IGMM zebrafish facility
A new publication in the American Journal of Human Genetics describes a Zebrafish model of the neurological disorder called leukoencephalopathy with calcification and cysts, or Labrune syndrome. May 2020

IGMM to support NHS by testing Covid-19 samples

Scientists, laboratory space and equipment from the University of Edinburgh are being used at IGMM to support NHS Lothian’s testing efforts to combat the Covid-19 pandemic: April 2020

CovidLife survey launched

Survey launched to gauge Covid-19’s impact on our everyday lives. April 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