An archive of Centre news from 2020
Genes could be key to new Covid-19 treatments, study finds
Edinburgh researchers collaborating in the global GenOMICC consortium identify potential treatments for Covid-19 after the discovery of five genes associated with the most severe form of the disease: December 2020
The Universities of Edinburgh and Glasgow join forces to train young doctors in musculoskeletal disease
The Universities of Edinburgh and Glasgow are joining forces to train young doctors in research relevant to the causes and treatment of musculoskeletal disorders. The ambitious new project which will see the institutions combine their global excellence in biomedical research and teaching to advance understanding of musculoskeletal diseases.
Two new genes involved in Aicardi-Goutières syndrome
A publication in Nature Genetics from Prof Yanick Crow’s laboratory has identified two new genes involved in the Mendelian inflammatory disorder Aicardi-Goutières syndrome.
MRC award to better understand leukoencephalopathy with calcification and cysts
Prof Yanick Crow’s recent award from the Medical Research Council will be used to gain a better understanding of the molecular pathology of a rare disease of the brain called leukoencephalopathy with calcification and cysts (LCC). Nov 20.
FAST Trial reports no cardiovascular risk of a treatment for gout
A treatment for gout presents no increased risk of cardiovascular events for patients compared to an older alternative, a major new study published in the Lancet has found. Nov 20.
Cohort study describes the molecular pathology of LCC
Using data from the largest cohort of patients yet studied, Prof Yanick Crow’s research team describe the clinical spectrum and molecular pathology of the disease leukoencephalopathy with calcification and cysts (also known as Labrune syndrome). October 20.
A faecal protein biomarker for risk of Crohn’s Disease progression
An association between the protein Faecal calprotectin and risk of progression of Crohn’s disease is investigated in a new publication led by Prof Charlie Lees. Sept 2020
COPA protein linked to type I interferon induction
In a new publication in the Journal of Experimental Medicine, Professor Yanick Crow’s group investigated the link between COPA protein and type I interferon induction. August 20
Scientists to develop antibody fingerprint serology test in fight against COVID-19
LifeArc and Medical Research Scotland have recently awarded funding to a multidisciplinary cross-College research team for a new project called TEST-COVID: July 2020
Genetic and epigenetic correlates of inflammatory protein level
Inflammatory response protein plasma concentration is shown to be associated with genetic and epigenetic correlates in a recent Genome Medicine publication. July 2020
Proteomics add power to drug discovery
Combining protein and DNA information provides stronger support for specific proteins in development of disease: July 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.