MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

News 2018

An archive of News from 2018

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

Women in Cell Biology Award for Pleasantine Mill

Pleasantine Mill honoured with the 2019 Women in Cell Biology Early Career Medal: December 2018

Chromatin effects on CRISPR

Chromatin environment of CRISPR-Cas9 target sites affects rate of mutagenesis, but not types of mutation or frequency

Unlocking the genetic variation for hair colour

UK biobank study reveals nearly 200 genes for hair colour: December 2018

New DNA replication link to microcephalic primordial dwarfism

Mutations in DNA replication gene, polymerase epsilon, lead to growth restriction, adrenal dysfunction and immunodeficiency: November 2018

Mutations in a DNA methyltransferase cause microcephalic dwarfism

Interplay between DNA methylation and Polycomb at key developmental regulators helps determine organism size in mammals: November 2018

Real time changes in cilia during cell division

Seeing is believing: monitoring real time changes in cilia during cell division in our bodies: November 2018

Celebrating Nick Hastie’s legacy

Celebrating Nick Hastie’s legacy
Hastie's Career Advancement Fund will support talented early-career scientists at IGMM: November 2018

Chancellor's Award for David FitzPatrick

David FitzPatrick honoured with Chancellor's Award for Impact at Holyrood Palace

PCD Awareness Event 2018

Researchers, families and advocates discuss research, diagnostics  and the patient and family perspective for primary ciliary dyskinesia (PCD): October 2018

Gene ATLAS for genetic discovery in UK Biobank

complex traits, statistical genetics, prediction
Scientists have developed an atlas of genetic associations with data from over 452,000 individuals: October 2018

HiP-HoP: A new inter-disciplinary approach to predict complex 3D genome folding

Gilbert and colleagues describe a new method, HiP HoP, for predicting the 3 dimensional folding of chromatin
Gilbert and colleagues describe a new method for prediction of the 3 dimensional folding of chromatin in a Molecular Cell paper: October 2018

Antibiotic may selectively kill dangerous skin cancer cells

antibiotic may kill dangerous skin cancer
Patton and IGMM colleagues demonstrate potential use for nifuroxazide in melanoma: October 2018

HGU Hosts European Genome and Epigenome Integrity Conference

chromatin 3d meeting 2018
International scientific meeting of Chromatin3D training network: September 2018

Joint meeting with MRC Integrative Epidemiology Unit

Collaborative workshop between Units held at the MRC HGU: September 2018

Edinburgh Super-resolution Imaging Consortium Summer School 2018

The fifth annual summer school of the Edinburgh Super-Resolution Imaging Consortium (ESRIC) took place at the MRC Institute of Genetics and Molecular Medicine from the 16th - 20th July. It was attended by 32 students who came from as far afield as Canada and Australia to learn from leaders in the field and access state of the art technologies: August 2018

Genomic Ribonucleotides Produce PARP-Trapping Lesions

RNASEH2 deficiency impairs ribonucleotide excision repair to confer PARP inhibitor sensitivity: July 2018

RNase H2 promotes LINE-1 retrotransposition

Research challenges prior model of immune activation in Aicardi-Goutieres syndrome

Science Insights work experience week

It’s been another successful year for the Science Insights work experience week: August 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Findings may help guide clinical care: July 2018

New insights into regulation of gene linked to diabetes

Schematic of Pax6 gene region and gene expression pattern in developing mouse
Two new PAX6 regulatory elements identified and characterised

Tours, Talks and Tea Party - people-powered genetic research

For the MRC Festival of Medical Research, the MRC Human Genetics Unit celebrated research findings that public participation in Generation Scotland has made possible: June 2018

Professor Ian Jackson, Inaugural Lecture: Marvellous melanocytes

Professor Ian Jackson, Inaugural Lecture: Marvellous melanocytes
Ian Jackson Inaugural Lecture - first at IGMM: June 2018

Students win 2018 John Inglis prize

Congratulations to Irene Kallimasioti and Ilya Flyamer for winning the 2018 John Inglis prize for the best student presentation: June 2018

Molecular motor clue to rare genetic disorder

Chaperone protein could provide new therapeutic avenue for primary ciliary dyskinesia

Joe Marsh awarded Lister Institute’s Prize Fellowship

IGMM News 2015 -  joe marsh
Fellowship will support computational study of protein complexes in normal biological processes and human disease

MRC HGU joins patient-led ME research

PhD studentship will study immune differences in patients with ME: May 2018

Genetic links to corneal disorders

Genetics of corneal thickness link to corneal disease: May 2018

£53m funding boost for MRC Human Genetics Unit

​​​​​​​The MRC Human Genetics Unit has received a £53 million funding boost from the Medical Research Council (MRC), supporting research at the Unit for the next five years: May 2018

MRC Harwell joint meeting

MRC Harwell join MRC Human Genetics Unit researchers in Edinburgh for a joint scientific meeting: April 2018

Dr David Hunt awarded Emerging Leader Prize

Dr David Hunt
Congratulations to Dr David Hunt, who is based between the MRC Institute of Genetics and Molecular Medicine and the Centre for Clinical Brain Sciences at the University of Edinburgh, for winning the Medical Research Foundation’s first Emerging Leaders Prize: April 2018

PhD students explore the role of scientists in industry

Science Interface to Industry event 2018
The MRC Institute of Genetics and Molecular Medicine hosted the first “Science at the Interface to Industry” 3 day workshop: April 2018

Poster prizes at Biotexcel Genomic Medicine

Poster prize Biotexcel Genomic Medicine
MRC HGU researchers win poster prizes and participate in Biotexcel Genomic Medicine meeting 2018: April 2018

Edinburgh scientists leading groundbreaking research to help predict bowel cancer risk

The SCOTTY Study
Scientists in Edinburgh are leading a groundbreaking study that could help doctors and scientists identify patients at risk of developing bowel cancer and find new treatments for the disease: April 2018

3 IGMM researchers awarded ERC Advanced Grants

Crow, Jackson and Ralston awarded grants to study interferonopathies
Crow, Jackson and Ralston awarded grants to study interferonopathies, brain size and Paget’s disease: April 2018

Protein complex evolution influenced by ligand binding site structure

J.Marsh - Research Image
Different types of ligand binding site affect the way that protein complexes have evolved: April 2018

Cross-Disciplinary Fellowships (XDF) Programme

XDF Programme
Up to 8 fellows who have acquired strong data analytical and/or computational skills from their PhD studies in physics, mathematics, computer science, engineering, or similar are to be recruited: Closing date 8 March 2018

Dr Liz Patton - Woman of the Week in Stylist magazine

Visible Women initiative – celebrating women making a difference to society: March 2018

Prof Chris Ponting becomes FRSE

Chris Ponting
Professor Chris Ponting has been elected as a Fellow of the Royal Society of Edinburgh: February 2018

Cancer drugs could transform the lives of children with blood vessel defects

Drugs normally used to treat cancer could reduce the disfigurements of thousands of children born with life-threatening blood vessel defects: February 2018

MRC IGMM Health, Safety and Wellbeing Strategy Launched

The MRC Institute of Genetics and Molecular Medicine launched its 2018-2022 Health, Safety and Wellbeing Strategy on Monday 5 February 2018

Enhancer link to developmental disorders

super-enhancer link developmental disorder
A new genetic cause of Cornelia de Lange–like syndrome improves our understanding of how our genome controls our development: January 2018

Professor Margaret Frame receives OBE

New Year Honour for IGMM Director: January 2018

Steroid study sheds light on long term side effects of medicines

The study in immune cells may help to explain why some people develop resistance to these drugs, which have powerful anti-inflammatory benefits: December 2017

Applications closed for multi-disciplinary PhD programme at the MRC Human Genetics Unit

Applications are open for multi-disciplinary PhD programme at the MRC Human Genetics Unit
Outstanding candidates are being invited to join an MRC funded 4-year multi-disciplinary PhD programme in Human Genetics, Genomics and Disease at the MRC Human Genetics Unit (HGU), within the Institute of Genetics and Molecular Medicine (IGMM) at the University of Edinburgh: December 2017

The 2018 ESRIC Interdisciplinary Consortium Meeting at the IGMM

ESRIC Interdisciplinary Consortium
The annual Edinburgh Super-Resolution Imaging Consortium (ESRIC) Symposium Meeting promotes interdisciplinary research in advanced and super-resolution optical imaging and its application to biomedical science: December 2017