MRC Human Genetics Unit
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News 2019

An archive of IGMM News from 2019

Long-serving staff congratulated with awards from Principal

Dedicated members of staff have recently been recognised by the University of Edinburgh for 25 and 40 years’ service: December 2019

Genetic clues to retinal detachment

A large study has identified 6 regions of the human genome influencing risk of sight-threatening condition: December 2019

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

European Research Council Consolidator Grant awarded to Pleasantine Mill

Image of cilia
€600 million has been awarded between 301 of Europe’s top scientists, including support for the CiliaCircuits project: December 2019

Rarity is Common: The Genetics of Shetland

Whole genome sequencing reveals high number of ultra-rare genetic variants, particularly in gene coding and regulatory regions: December 2019

Cabinet Secretary Jeane Freeman MSP visits the MRC Human Genetics Unit

The Medical Research Council (MRC) Human Genetics Unit at The University of Edinburgh welcomed Jeane Freeman MSP, Cabinet Secretary for Health and Sport for the Scottish Government: 7 November 2019

DNA: Disease, Nature, Ancestry ─ Three billion letters of you

​​​​​​​Professor Chris Ponting delivered a fascinating and engaging inaugural lecture at IGMM on 30 September: November 2019

Interpreting PAX6 mutations in microphthalmia

Protein-DNA interactions hold key to worse-than-null effects in microphthalmia: November 2019

Diabetes Scotland supporters visit research labs

Diabetes Scotland Supporters Visit IGMM
Professor Helen Colhoun welcomed a group of passionate fundraisers to find out more about Diabetes UK funded research at the IGMM: October 2019

Mill Lab shares research with families at primary ciliary dyskinesia support network event

To mark primary ciliary dyskinesia awareness month, the Mill Lab took their research and love for science to Glasgow for Scottish PCD Family Day: October 2019

IGMM welcomes the public inside for Doors Open Day

Visitors exploring IGMM for Doors Open Day 2019
The MRC Institute of Genetics and Molecular Medicine opened its doors to the public for its fourth Doors Open Day last month, hosting almost 200 visitors: October 2019

Scientists track cell family trees to discover their role in tissue scarring and liver disease

WT1-producing positive and negative cells
Researchers have discovered that a key cell type involved in liver injury and cancer consists of two cellular families with different origins and functions: October 2019

Novel cell states in melanoma progression and residual disease

Using zebrafish models to visualise cells at the site of melanoma residual disease with the potential to drive melanoma recurrence: October 2019

DNA findings suggest improved way to predict gout

Genetic data from half a million individuals informs on gout prediction and biological underpinning of high urate levels: October 2019

Probing TADs in development

Tad Shh diagram showing boundary disruption
Alteration of TAD boundaries does not prevent Shh gene function or impair development: September 2019

Physicists and biologists work together to shed light on genome reorganisation in senescence

Scientists from the School of Physics and Astronomy and the MRC Human Genetics Unit at the University of Edinburgh work together to uncover mechanisms governing genome reorganisation in senescence: September 2019

Activation at a distance: new evidence on enhancer-gene communication

enhancer-gene communication
Recent findings from scientists at the MRC Human Genetics Unit have shed new light on how enhancers and genes communicate at great distance along the chromosome: September 2019

Scotland’s genetic landscape echoes Dark Age populations

Genetic Map of Scotland
The DNA of Scottish people still contains signs of the country’s ancient kingdoms, with many apparently living in the same areas as their ancestors did more than a millennium ago, a study shows: September 2019

Lothian Birth Cohort study suggests ageing process accelerated by DNA changes

MRC Human Genetics Unit and Centre for Genomic and Experimental Medicine study with University of Glasgow links somatic mutations to a general measure of biological ageing: August 2019

Inaugural Hastie Career Advancement Awards given to IGMM postdocs

Magda and Carmen receive Hastie Career Advancement Fund
Carmen Amador and Magda Maslon, postdoctoral researchers at the MRC Human Genetics Unit, have received inaugural awards from the Hastie Career Advancement Fund.

John Inglis Prize Awarded for Best Student Presentations

Kathryn Jackson-Jones speaks at John Inglis talks 2019
Congratulations to Kathryn Jackson-Jones and Christina Joseph for winning the 2019 John Inglis Prize for Best Student Presentations: July 2019

Science Insights – New Insights MRC Festival of Medical Research

Over the last five years, Public Engagement staff from across the College of Medicine and Veterinary Medicine have coordinated Science Insights, a week-long summer work experience programme for S5 pupils: June 2019

Shining a Light on Genetic Disorders

On 18 June the public joined researchers, clinicians and patients at the MRC IGMM for ‘Shining a Light on Genetic Disorders’, part of this year’s MRC Festival of Medical Research: June 2019

Genetics Garden wins Silver Medal at the RHS Chelsea Flower Show

Centenary Garden at Chelsea Flower Show
Professor Wendy Bickmore and fellow members of the Genetics Society have proudly brought home a prestigious award by taking genetics to the general public at this year’s RHS Chelsea Flower Show.

DNA tests for patients move closer with genome analysis advance

Diseases caused by genetic changes could be detected more readily thanks to an advance in DNA analysis software.

ediRNA Meeting 2019

edinRNA 2019
Bringing together RNA researchers in Edinburgh: May 2019

Fine tuning energy production

Cerox1 long non-coding RNA regulates mitochondrial activity

Notch mediates secondary senescence

Novel signalling pathway identified using single cell approaches

From Green Bench to Lab Bench

Carol Monaghan MP in CGEM lab
Carol Monaghan MP took a walk in the shoes of an Edinburgh health data scientist as part of the Royal Society's pairing scheme for scientists and MPs. April 2019

Mum or dad? Parent-of-origin effects on metabolic traits

Methylation differences linked to parent of origin effects on multiple traits

Science at the Interface to Industry

science at the interface of industry
Workshop running from 24 - 26t April located at the Institute of Genetics and Molecular Medicine: March 2019

Early Career Prize for Olga Murina

Olga Murina receiving the SULSA ECR award
SULSA ECR award allows a Scotland-wide seminar tour and individual prize funding: March 2019

People choose romantic partners with similar lifespan

People tend to unwittingly choose a life partner with a comparable life expectancy, research suggests.

Royal Society of Edinburgh Fellowship for David FitzPatrick

David FitzPatrick
Fellowship recognises leadership in genetics of developmental disorders: March 2019

Shining a light on genetic disorders

The importance of the Patient Voice: February 2019

Study sheds light on damage linked to ageing

cells
Some of the damaging cell effects linked to ageing could be prevented by manipulating tiny parts of cells, a study shows: February 2019

Finding the breaking point of cancer

Cancer is a disease of the genome, and tumour sequencing projects have highlighted the enormous changes that the human genome undergoes during the evolution of a tumour: February 2019

Developing and demonstrating public presentation skills

The IGMM Heat of the 3MT Competition and “Do Your Looks Betray You?”: February 2019

International student visit from the Zhejiang University-University of Edinburgh (ZJE) Institute, China Collaborations in Biomedical Sciences and Biomedical Informatics

On 24 January, the IGMM was delighted to welcome 14 undergraduate students from the Zhejiang University-University of Edinburgh (ZJE) Institute, China. They are in the third year of a four-year dual award programme in Integrative Biomedical Sciences: February 2019

Enhancing Biobank Research

How MRC HGU is contributing to global biobanking efforts

New mitochondrial link to retinal degeneration

Mutations in Idh3a lead to defects in mitochondrial dysfunction: Dec 2018