Mitochondrial Medicine
Lead Research Organisation:
MRC Centre Cambridge
Abstract
This programme will allow us to identify new disease-genes and proteins, to investigate disease mechanisms, and to test new interventions for effective treatment of Mitochondrial Disorders, a group of genetic maladies characterized by dysfunction of oxidative phosphorylation (OXPHOS), the energy-supplying metabolic pathway carried out by the mitochondrial respiratory chain (MRC) complexes. Thirteen MRC protein subunits are encoded by mtDNA, which adds to the genetic, functional and structural complexity of OXPHOS, and of its disorders as well. The heterogeneity of mitochondrial disorders makes the identification of effective therapy an exceedingly difficult task. However, the elucidation of many of the pathophysiological features of these conditions give us now several clues for the development of therapeutic strategies, with the ultimate goal to cure mitochondrial disease.
Technical Summary
This project is aimed at identifying new genes responsible for mitochondrial disorders, characterized by isolated or combined defects of the mitochondrial respiratory chain (MRC) complexes by exome sequencing of human DNA samples using Illumina technology. An inter-institutional agreement between the MRC-MBU in Cambridge, UK and the Fondazione Istituto Neurologico Carlo Besta, Milan, Italy, allow us to get access to genomic DNA samples from numerous patients with biochemically defined mitochondrial diseases. To the same aim, collaborations have been established with other Research Centres in the UK, such as the Mitochondrial Disease Centre at the University of Newcastle and the Institute of Neurology at Queen Square in London; and abroad, e.g. the Max Planck Institute for Aging in Cologne, and the Institute of Human Genetics in Munich, Germany. We expect that the project will lead to the genetic definition of all or most of our cohort of probands, an achievement that will contribute to define the molecular-genetic basis of this vast group of conditions. The identification of new mitochondrial disease proteins is essential to further elucidate the pathogenesis of mitochondrial disorders, is important to complete our knowledge on the composition of the human mitochondrial proteome, and will contribute to the molecular characterization of mitochondrial energy-related pathways. This goal will be implemented by creating recombinant cell models for new mutant genes, in vitro characterization by proteomics approaches, and investigating suitable animal models, including mouse and zebrafish. Examples of gene products that will be studied include TTC19, an assembly factor for complex III; Mpv17, a mitochondrial protein of unknown function whose mutations cause profound depletion of mtDNA in livers of knockout mice and patients; FBXL4 and Apopt1, two proteins of unknown function associated with mtFDNA depletion and deficiency of cytochrome c oxidase, respectively; and Pitrm1, a mitochondrial protease we recently found mutated in patients showing a neurodegenerative disease. The molecular and functional characterization of new disease genes/proteins and pathways will underpin the development of rational therapeutic strategies. Effective therapy for OXPHOS diseases is missing. We have collected a huge series of mutant cell (fibroblast) lines and created numerous mouse recombinant lines with specific defects in genes associated with human mitochondrial disease. The availability of these tools will be exploited to develop experimental therapy transferable to humans. The translational agenda that will be implemented at the MBU will include three main strategies for experimental therapy, based on (a) Activators of mitochondrial biogenesis acting on the PGC1-alpha axis; (b) Gene replacement using adeno-associated viral vectors; (c) Xenogene targeting using alternative oxidases expressed in recombinant mouse lines.
Organisations
- MRC Centre Cambridge, United Kingdom (Lead Research Organisation)
- University College London, United Kingdom (Collaboration)
- Swiss Federal Institute of Technology in Lausanne (EPFL) (Collaboration)
- Ospedale Pediatrico Bambino Gesu (OPBG) (Collaboration)
- University of Bologna, Italy (Collaboration)
- Newcastle University, United Kingdom (Collaboration)
- German Centre for Neurodegenerative Diseases (Collaboration)
- University of Parma, Italy (Collaboration)
- Tampere University of Technology, Finland (Collaboration)
- University of Padova (Collaboration)
- University of Bergen, Norway (Collaboration)
- Helmholtz Zentrum München (Collaboration)
- University of Barcelona, Spain (Collaboration)
- University of Naples (Collaboration)
- Carlo Besta Neurological Institute (Collaboration)
People |
ORCID iD |
Massimo Zeviani (Principal Investigator) |
Publications

Ardissone A
(2014)
Mitochondrial Diseases in Childhood.
in Current molecular medicine

Ardissone A
(2015)
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
in JIMD reports

Barboni P
(2014)
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
in American journal of ophthalmology

Barboni P
(2013)
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
in Brain : a journal of neurology

Baruffini E
(2013)
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
in Human mutation

Bee L
(2015)
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
in EMBO molecular medicine

Boncompagni S
(2020)
Physical and Functional Cross Talk Between Endo-Sarcoplasmic Reticulum and Mitochondria in Skeletal Muscle.
in Antioxidants & redox signaling

Bottani E
(2014)
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
in Molecular therapy : the journal of the American Society of Gene Therapy

Bottani E
(2017)
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.
in Molecular cell

Brea-Calvo G
(2015)
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
in American journal of human genetics
Description | FP7 ERC Advanced Grant |
Amount | € 2,004,200 (EUR) |
Funding ID | FP7-322424 |
Organisation | European Research Council (ERC) |
Sector | Public |
Country | Belgium |
Start | 06/2013 |
End | 06/2018 |
Title | Mouse and cell lines |
Description | Recombinant mouse lines for mitochondrial diseases and cell derivatives from primary human fibroblasts. |
Type Of Material | Cell line |
Year Produced | 2013 |
Provided To Others? | Yes |
Impact | Publications. |
Title | Next generation sequencing |
Description | Whole exome sequencing of patients with mitochondrial disease aimed at identifying new oxphos-related genes relevant to human medicine. |
Type Of Material | Biological samples |
Year Produced | 2013 |
Provided To Others? | Yes |
Impact | Several papers in high impact journals. |
Title | Mitochondrial disease genes |
Description | Development of database on new mitochondrial disease genes. |
Type Of Material | Database/Collection of data |
Year Produced | 2013 |
Provided To Others? | Yes |
Impact | We have published a few papers on new mitochondrial disease genes. |
Title | Recombinant Mouse models of mitochondrial disease |
Description | We have developed numerous mouse lines of mitochondrial disease and have build up a database containing the genotypes, phenotypes and response to medications of these lines. |
Type Of Material | Database/Collection of data |
Year Produced | 2013 |
Provided To Others? | Yes |
Impact | Our research is largely based on the study of mouse models both to understand the pathomechanisms of mitochondrial disease and test pharmacological or gene therapeutic approaches to mitigate the phenotype. |
Description | Ashcroft |
Organisation | University College London |
Department | Division of Medicine |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Collaborative support for work on mitochondrial function. |
Collaborator Contribution | Provision of advice and reagents. |
Impact | .. |
Start Year | 2013 |
Description | Auwerx |
Organisation | Swiss Federal Institute of Technology in Lausanne (EPFL) |
Department | Laboratory of Integrative Systems Physiology (LISP) |
Country | Switzerland |
Sector | Academic/University |
PI Contribution | Identification of mitochondrial biogenesis. |
Collaborator Contribution | Testing cell lines. |
Impact | .. |
Start Year | 2013 |
Description | Besta |
Organisation | Carlo Besta Neurological Institute |
Country | Italy |
Sector | Public |
PI Contribution | Genetic analysis of patient DNA samples. |
Collaborator Contribution | Identification and characterisation of mitochondrial disease patients. |
Impact | Publications. |
Start Year | 2013 |
Description | Dr Carlo Dionisi-Vici |
Organisation | Ospedale Pediatrico Bambino Gesu (OPBG) |
Country | Italy |
Sector | Academic/University |
PI Contribution | Genetic and biochemical definition of patients with ethylmalonic encephalopathy and follow up of patients under pharmacological treatment or treated with liver transplantation. |
Collaborator Contribution | Clinical management of patients with ethylmalonic encephalopathy. |
Impact | Several papers in high impact journals. |
Start Year | 2010 |
Description | Ferrero |
Organisation | University of Parma |
Department | Department of Life Sciences |
Country | Italy |
Sector | Academic/University |
PI Contribution | Collaboration on modelling several human diseases in yeast. |
Collaborator Contribution | Provision of scientific material. |
Impact | .. |
Start Year | 2013 |
Description | Jacobs |
Organisation | Tampere University of Technology |
Country | Finland |
Sector | Academic/University |
PI Contribution | Creation of genetically defined recombinant mitochondrial disease mouse models. |
Collaborator Contribution | Creation of transgenic mice expressing alternative oxidases. |
Impact | .. |
Start Year | 2012 |
Description | Mitochondrial Neurodegeneration |
Organisation | German Centre for Neurodegenerative Diseases |
Country | Germany |
Sector | Public |
PI Contribution | We found a mutation in a family with neurodegeneration in PITRM1 a gene encoding a mitochondrial metalloprotease. We found accumulation of A-beta amyloid in a hemyzygous +/- mutant mouse for this gene. We have established a collaboration with Prof. Gasser to produce IPSC and programmed neuronal cell lines carrying the mutation and study the cell biology of abnormal PITRM1 function. We also plan to carry out a screening for PITRM1 variants in samples from patients with neurodegeneration provided by Prof. Gasser and other suitable sources. |
Collaborator Contribution | Prof. Gasser and his collaborators will give us access to the DZNE biobank of DNA samples from patients with neurodegeneration and will develop the cell biology section of the project. |
Impact | We have published one paper in EMBO Molecular Medicine at the end of 2015 reporting the PITRM1 mutation and the characterisation of the PITRM1 homozygous knockout mouse. No collaborative output with DNZE has been produced yet as the collaboration just started in 2016. |
Start Year | 2016 |
Description | Professor Andrea Ballabio |
Organisation | University of Naples |
Department | Medical School Naples |
Country | Italy |
Sector | Academic/University |
PI Contribution | Investigation of the phenotype of crosses between mouse models of mitochondrial disease and a transgenic mouse over-expressing TFEB, a master regulator of autophagy and lysosomal biogenesis. |
Collaborator Contribution | Creation and characterisation of a TFEB over-expressing mouse. |
Impact | Not yet. |
Start Year | 2012 |
Description | Professor Cesare Galli |
Organisation | University of Bologna |
Country | Italy |
Sector | Academic/University |
PI Contribution | Phenotypic characterisation of recombinant swine models for mitochondrial disease. |
Collaborator Contribution | Creation of recombinant swine models for mitochondrial disease. |
Impact | Not yet. |
Start Year | 2013 |
Description | Professor Laurence Bindoff |
Organisation | University of Bergen |
Country | Norway |
Sector | Academic/University |
PI Contribution | Biochemical and molecular characterisation of human mutant cell lines for POLG encoding the mitochondrial DNA polymerase. Characterisation of a knock out mouse model for PIPRM1 in mitochondrial protease. |
Collaborator Contribution | Identification and clinical characterisation of patients with POLG and PIPRM1 mutations. Neuropathological neuro imaging studies and creation of patient derived cell lines. |
Impact | Several papers in high impact journals. |
Description | Professor Luca Scorrano |
Organisation | University of Padova |
Country | Italy |
Sector | Academic/University |
PI Contribution | Investigation of the effect of OPA1 over-expression on a genetic mouse model of severe mitochondrial myopathy. |
Collaborator Contribution | Creation of an OPA1 over-expressing transgenic mouse model. |
Impact | Two papers submitted to Cell Metabolism. |
Start Year | 2013 |
Description | Professor Michael Hanna |
Organisation | University College London |
Department | Faculty of Medical Sciences |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Genetic investigation of patients and clinical trials for developing drug based therapies for mitochondrial diseases. |
Collaborator Contribution | Genetic investigation of patients and clinical trials for developing drug based therapies for mitochondrial diseases. |
Impact | Not yet. |
Start Year | 2013 |
Description | Professor Robert Taylor |
Organisation | Newcastle University |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Identification and characterisation of mitochondrial disease genes from patients' samples shared with partner organisation. |
Collaborator Contribution | Identification and characterisation of mitochondrial disease genes from patients' samples shared with partner organisation. |
Impact | Several papers in high impact journals. |
Start Year | 2012 |
Description | Professor Rodolfo Costa |
Organisation | University of Padova |
Country | Italy |
Sector | Academic/University |
PI Contribution | Biochemical characterisation of fly models of mitochondrial disorders. |
Collaborator Contribution | Creation of knock down flies for genes involved in oxidative phosphorylation. |
Impact | Several papers in high impact journals. |
Description | Professor Rosario Rizzuto |
Organisation | University of Padova |
Country | Italy |
Sector | Academic/University |
PI Contribution | Provision of human cell lines and trans-mitochondrial cybrids from patients with different pathogenic mutations in mitochondrial DNA. |
Collaborator Contribution | Investigation of the autophagic and mitophagic flux in vivo. |
Impact | One paper submitted to Hum. Mol. Genet. |
Start Year | 2011 |
Description | Prokisch |
Organisation | Helmholtz Zentrum München |
Department | Institute of Human Genetics |
Country | Germany |
Sector | Academic/University |
PI Contribution | Genetic screening of mitochondrial disease patients. |
Collaborator Contribution | Next generation sequencing of selected DNA samples. |
Impact | Numerous publications. |
Start Year | 2011 |
Description | Ramon Marti-Sevres |
Organisation | University of Barcelona |
Country | Spain |
Sector | Academic/University |
PI Contribution | Experimental trial on mouse models of a gene replacement therapy against MNGIE. Transfer of these observations in a clinical trial on patients. |
Collaborator Contribution | Creation of a mouse model for MNGIE and participation in the future clinical trial. |
Impact | One publication in Mol. Ther. More will follow. |
Start Year | 2012 |
Description | AIM National Congress |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to present current work. |
Year(s) Of Engagement Activity | 2016 |
Description | Attendance at conferences and scientific meetings |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Type Of Presentation | Keynote/Invited Speaker |
Geographic Reach | International |
Primary Audience | Other academic audiences (collaborators, peers etc.) |
Results and Impact | Various conferences throughout the year. Potential collaborations; networking opportunities at which to promote the Unit/MRC/research. |
Year(s) Of Engagement Activity | 2013 |
Description | Big Biology Day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Schools |
Results and Impact | Members of the MRC MBU, with a guest from the MRC Cancer Unit, participated in the Big Biology Day 2016 at Hills Road Sixth Form College. Scientists explained the Unit's research with hands-on activities, such as crystallography, DNA sequencing puzzles and computer-based protein analysis.... and good use was made of the whiteboard! |
Year(s) Of Engagement Activity | 2016,2018 |
URL | http://www.mrc-mbu.cam.ac.uk/news/2650/big-biology-day-2016 |
Description | Bioenergetics Lecture |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Postgraduate students |
Results and Impact | In house training lecture given to PhD Students on Mitochondrial Medicine. One hour lecture followed by one hour discussion group one week later. |
Year(s) Of Engagement Activity | 2016 |
Description | Bologna University - Keynote Speaker |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to deliver keynote speech |
Year(s) Of Engagement Activity | 2016 |
Description | Broadening Horizons (Anglia Ruskin) |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | Careers fair for primary school students |
Year(s) Of Engagement Activity | 2016 |
Description | Convention, Rome |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to present on specialist field in Mitochondrial Medicine. |
Year(s) Of Engagement Activity | 2016 |
Description | Dissemination of scientific achievements via the internet |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Dissemination of scientific achievements and publications to the general public, scientists and others via Alpha Galileo, the Unit's website, Twitter and Facebook. https://www.facebook.com/mrc.mbu/; Twitter - @MRC_MBU; http:// www.mrc-mbu.cam.ac.uk/ http://www.alphagalileo.org/ http://www.mrc-mbu.cam.ac.uk/people/massimo-zeviani |
Year(s) Of Engagement Activity | 2015,2016,2017,2018 |
URL | https://www.facebook.com/mrc.mbu/ |
Description | EBEC ascientific Meeting. Garda |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to present. |
Year(s) Of Engagement Activity | 2016 |
Description | Genetics Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | University College, London Genetics Meeting - Attendee |
Year(s) Of Engagement Activity | 2016 |
Description | International Myopathies Workshop |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | The workshop was designed to discuss ideas, generate new ideas for the future and catch up with current and new collaborators. |
Year(s) Of Engagement Activity | 2016 |
Description | Key Note Speaker |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | George Karpati Lecture, Montreal. Invitation to attend and deliver the keynote presentation. |
Year(s) Of Engagement Activity | 2016 |
Description | Lectures on Mitochondrial Medicine at The Scuola Galileiana, University of Padova, Italy |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Massimo Zeviani delivered eight lectures (titles below) in the Mitochondrial Biology and Genetics Lecture Series: joint initiative between the Galilean School of Higher Education and PhD Courses in Biosciences and Biomedical Sciences of the University of Padova. Introduction to mitochondrial biology and mtDNA genetics; Mitochondria and the evoluation of eukaryotes; The respiratory chain and oxidative phosphorylation; Methods of investigation in mitochondrial disorders; Disorders of mitochondrial DNA; Disorders of nucleus-mitochondria cross talk; Nuclear-gene mutations and OXPHOS disorders; Mitochondrial dysfunction in medicine; Impact: greater awareness. |
Year(s) Of Engagement Activity | 2015 |
Description | MBU Annual Open Day |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | The Unit was opened to visitors for a tour and a series of talks on our research activities. Approximately 60 people attended. Further interest from general public - they want to visit in 2015! Also, interest from sixth form science students in scientific careers. And the Unit was invited to participate in the Society of Biology's Big Biology Day (annually - October). |
Year(s) Of Engagement Activity | 2014,2015 |
URL | http://www.mrc-mbu.cam.ac.uk/news/2335/open-day-2015 |
Description | MEET (Mitochondrial European Education Training) Symposium 2016 |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | From bench to bedside, and back: Patients MEET Researchers - providing an opportunity for patients and scientists to meet and discuss mitochondrial diseases. |
Year(s) Of Engagement Activity | 2016 |
URL | http://www.itn-meet.org/MEET-Symposium-2016 |
Description | MRC MBU Annual Open Day (MRC Festival of Medical Research) |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | Overview of work at the MRC MBU; explanations of how mitochondrial dysfunction causes mitochondrial diseases. Audience: Secondary school students, tutors, general public and scientists from neighbouring institutes. Impact: increased awareness. |
Year(s) Of Engagement Activity | 2015,2016,2017 |
URL | http://www.mrc-mbu.cam.ac.uk/news/2335/open-day-2015 |
Description | MRC MBU Centenary Open Day |
Form Of Engagement Activity | Participation in an open day or visit at my research institution |
Part Of Official Scheme? | No |
Type Of Presentation | Keynote/Invited Speaker |
Geographic Reach | Local |
Primary Audience | Public/other audiences |
Results and Impact | To celebrate the Centenary of the Medical Research Council, the Mitochondrial Biology Unit opened its doors to the public on 20 June for demonstrations and presentations based on the theme 'How do we get energy out of food?'. Visitors were shown three presentations explaining where energy comes from, how it is 'stored' in chemical bonds, how energy is released during the breakdown of food and used to generate the cellular energy currency ATP, and what happens when these complex processes fail in mitochondrial dysfunction and disease. Visitors were also invited to view mitochondria in human cells, observing the complex networks they form. For most of our visitors, this was the first time that they had been inside the Unit and their feedback indicated that there was a high level of interest in mitochondria, how they work, and what important roles they play in the body. Our visitors came from a cross-section of the local and wider community, and they were very interested to learn about our research through talks and informative diagrams and images. Attendees: 22 Staff: 5 Students: 9 Interest was generated from schools (proposed visits) and from members of the general public. The Unit will be holding similar events in the future. |
Year(s) Of Engagement Activity | 2013 |
Description | Media interest |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | Provision of an image to the BBC for Professor Brian Cox's "Human Universe" series. Not yet known. |
Year(s) Of Engagement Activity | 2014 |
Description | Mitochondrial Medicine Conference |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Part of the organising committee for a large Mitochondrial Medicine Conference held at Hinxton Hall. |
Year(s) Of Engagement Activity | 2016 |
Description | Networking meeting |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Study participants or study members |
Results and Impact | Two day collaboration and network meeting to strengthen working relationships between Cambridge University and Colleague in Newcastle University |
Year(s) Of Engagement Activity | 2016 |
Description | Public Engagement Training |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Other audiences |
Results and Impact | Topics covered: Who are the public and what do they think? Understanding body language Intentions and measuring success Engagement in practice - case studies/experiences Places to find further support and methods to engage further |
Year(s) Of Engagement Activity | 2017 |
Description | Remix Meeting |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | First of many meeting in regards to the Remix Project. An ongoing commitment. |
Year(s) Of Engagement Activity | 2016 |
Description | Research Sympoisum |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to this workshop to further strengthen collaboration relationships and discuss current science |
Year(s) Of Engagement Activity | 2016 |
Description | SIN Congress Workshop |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to attend conference as specialist in field of Mitochondrial Medicine. |
Year(s) Of Engagement Activity | 2016 |
Description | SSIEM Conference |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to present Keynote Speach |
Year(s) Of Engagement Activity | 2016 |
Description | Science Day - Queen Edith's Primary School, Cambridge |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Schools |
Results and Impact | Members of the MBU visited Queen Edith's Primary School, Cambridge to participate in their Science Day. This was a carousel-type event, with students in years 1-4 rotating around the room. The demonstrations included Lego models, computer games, pipetting and DNA sequencing puzzles. Feedback from a teacher: Thank you so much for coming here today. The children have not stopped talking about it since leaving the room. |
Year(s) Of Engagement Activity | 2017 |
Description | Seminar |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Other audiences |
Results and Impact | Invited to deliver a presentation in Oxford for the Harwell Seminar |
Year(s) Of Engagement Activity | 2016 |
Description | St Mary's School, Cambridge |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Schools |
Results and Impact | The aims of the event was to give Year 5 and 6 students a greater insight into some of the career options available to them so that they are better informed in advance of making career choices. |
Year(s) Of Engagement Activity | 2017,2018 |
URL | http://www.mrc-mbu.cam.ac.uk/news/2765/careers-carousel-st-marys-school-cambridge |
Description | Symposium attendance |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Other audiences |
Results and Impact | Invited to present current work in the field of Mitochondrial Medicine. |
Year(s) Of Engagement Activity | 2016 |
Description | The Big Bang Fair Eastern |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Schools |
Results and Impact | Computer games aimed at understanding mitochondrial dysfunction, Posters explaining the science, Movies. Impact: increased awareness. Feedback: Thank you for your email, it was lovely to meet you all too. The girls had a lovely time. I am happy to let you know that the school gives permission for you to use the image. Thank you also for inspiring and educating our girls. |
Year(s) Of Engagement Activity | 2015,2016,2017 |
URL | http://nearme.thebigbangfair.co.uk/eastern/ |
Description | University of Cambridge Science Festival |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | Demonstrating how mitochondrial dysfunction leads to illness and giving insight into the work of the MBU. ?The whole CSF presence in the Clinical School was excellent, and the MRC's contribution was very much appreciated. Interest in attending the Unit's open day in June. |
Year(s) Of Engagement Activity | 2015,2016,2017,2018 |
URL | http://www.sciencefestival.cam.ac.uk/about/past-festivals/2015-cambridge-science-festival |
Description | Website videos |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Schools |
Results and Impact | Participation in video filming for MBU website (Cambridge TV) |
Year(s) Of Engagement Activity | 2016 |
Description | Work Experience |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | Visit by three Year 10 students (age 15) to the Unit for one week each - work experience/shadowing in various research groups/environments, chaperoned throughout by individual members of the Unit. Presentation by the visitors at the end of the week. |
Year(s) Of Engagement Activity | 2016,2017 |
Description | Workshop |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | EMBO Workshop held in Tammsvik. |
Year(s) Of Engagement Activity | 2016 |