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)
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
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.
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