The role of MRAPs in the control of melanocortin receptor dependent energy homeostasis and adrenal function

Lead Research Organisation: Queen Mary, University of London
Department Name: William Harvey Research Institute

Abstract

The ‘melanocortin receptors‘ are an important group of proteins which are found on the surface of cells at many places in the body. They are responsible for a large number of different processes such as food metabolism, feeding behaviour and stress responses. Diseases which can present in childhood, such as severe obesity and the inability to fight infections, arise when these receptors fail to work properly. In the laboratory we have now identified two other proteins called MRAPs (Melanocortin Receptor Accessory Proteins) that affect the way in which the melanocortin receptors work. By studying the MRAP proteins in cells, and what happens when the MRAP proteins are absent, we will better understand how the MRAP/Melanocortin receptors work together, and how defects in them could lead to disease. In the long-term this understanding may help in the development of new drugs for the treatment of conditions such as obesity.

Technical Summary

The Melanocortin Receptor (MCR) family consists of five G protein-coupled receptors (MC1R to MC5R) which have a diverse role in human physiological and disease processes. MC1R is important in pigmentation, MC2R in steriodogenesis and MC5R has an exocrine function especially in sebaceous gland secretion. MC3R and MC4R are both highly expressed in the brain and play key roles in energy homeostasis. Mutations in MC4R are the most common cause of monogenic obesity. More recently, fat mass, weight, risk of obesity and insulin resistance were associated with common variants near the MC4R locus. Both MC4R knockout mice and humans with MC4R mutations display early onset obesity associated with hyperphagia. MC3R knockout mice, however, develop a milder phenotype with later onset obesity.
MRAP (Melanocortin-2-receptor accessory protein) is a small transmembrane MC2R accessory protein that enables the functional expression of MC2R. Mutations in MRAP result in the autosomal recessive disorder, Familial Glucocorticoid Deficiency type 2.
More recently, we identified and characterised a novel MRAP homologue highly expressed in the brain, which we have named MRAP2. We showed that the MRAPs were novel bidirectional regulators of the MCR family. MRAPs can interact with all five members of the MCR family, and in doing so regulate cell surface receptor expression and signalling. Both MRAP and MRAP2 are expressed in the hypothalamus, in regions where MC3R and MC4R are known to be expressed. This suggests that the MRAPs may play an important role in vivo in regulating appetite and weight. MRAP2 is also expressed in the adrenal gland and may play a role in adrenal function and/or development.
The ultimate aim of this Fellowship is to further characterise the role of MRAPs on MCR function and to establish the in vivo role of MRAPs in energy homeostasis and adrenal function. I hypothesise that: (1) MRAPs affect MCR binding and ligand specificity (2) Changes in the expression of MRAP and MRAP2 will affect MC3R and MC4R expression and signalling, hence disrupt and alter feeding behaviour, energy homeostasis and fat mass in murine models (3) MRAP2, in addition to the already established role of MRAP, plays an important role in adrenal function and/or development.
The potential medical and scientific opportunities are great as therapeutic manipulation of the melanocortin receptors is at the forefront of pharmacological research.

Publications

10 25 50
 
Title Poem for science engagement with the public 
Description Post doc created a poem describing science undertaken in lab. 
Type Of Art Performance (Music, Dance, Drama, etc) 
Year Produced 2020 
Impact Outreach - science engagement. 
URL https://vimeo.com/448844059
 
Description ACTH antagonist paper cited in a clinical update review
Geographic Reach Multiple continents/international 
Policy Influence Type Citation in clinical reviews
 
Description Change in course material (ESPE Science School)
Geographic Reach Asia 
Policy Influence Type Influenced training of practitioners or researchers
Impact Attended the first European Society for Paediatric Endocrinology. The suggestions I made on how the course content could be changed was taken up by the organizers to be undertaken in next years course.
 
Description Diagnosis and treatment of Cushing's disease in children and The genetics of familial glucocorticoid deficiency
Geographic Reach Multiple continents/international 
Policy Influence Type Citation in clinical reviews
Impact Published clinical reviews based on clinical experience in the department. Diagnosis and treatment of Cushing's disease in children. Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL. Endocr Dev. 2010;17:134-45. Epub 2009 Nov 24. The genetics of familial glucocorticoid deficiency. Clark AJ, Chan LF, Chung TT, Metherell LA. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):159-65. Review.
 
Description Endocrine Society Self-Assessment Program Faculty Member
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
URL https://education.endocrine.org/PESAP2019-2020#group-tabs-node-course-default2
 
Description Implementation of 'international trainee program' as part of ENDO
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
Impact Suggestion and implementation of new ENDO program for international trainees. Focusing on 'tool-kit' required for the international trainee to thrive in USA.
URL https://www.endocrine.org/endocareers/in-training-and-early-career-resources/international-seminar-s...
 
Description Implementation of new international trainees program at ENDO 2015
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
Impact Improving international relations and information on training in different countries as well as putting people (PIs and students) together.
 
Description Influence patient understanding of new therapies in adrenal diseases
Geographic Reach Europe 
Policy Influence Type Influenced training of practitioners or researchers
 
Description MDT working group meeting
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
URL https://www.genomicsengland.co.uk/about-genomics-england/
 
Description Minority Affairs Mentor and poster judge at ENDO 2011, 2012, 2015
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
Impact Providing mentorship to early career trainees from minority groups.
URL https://endo.confex.com/endo/2013endo/webprogram/Session2543.html
 
Description Representative for adrenal research for Barts Health as part of Endo-ERN and HPA representative to Endo-ERN general meeting 2018
Geographic Reach Europe 
Policy Influence Type Membership of a guideline committee
Impact The European Reference Network on rare endocrine conditions (Endo-ERN) aims to improve access to high-quality healthcare for patients with hormonal disorders. Endocrine conditions are often complex and require a long period of care due to chronic disease without being life-threatening. Therefore, endocrine care requires equal distribution of paediatric and adult care. Endo-ERN aims to provide this care for patients throughout their entire lives and to reduce and ultimately abolish inequalities in care for patients with rare endocrine disorders in Europe, through facilitating knowledge sharing and facilitating related healthcare and research. Clinical guidelines, registries and systems to allow clinicians to discuss complex patients have been developed to better care.
URL https://endo-ern.eu
 
Description Reviewer for ENDO Early Investigators Awards and Women's Health awards(2012-2017)
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
 
Description Self Assessment Athena Swan Group (School of Medicine and Dentistry) - Impacts and Implementation
Geographic Reach Local/Municipal/Regional 
Policy Influence Type Membership of a guideline committee
Impact Part of the Athena Swan assessment team to promoting diversity in the work place.
URL http://www.smd.qmul.ac.uk/about/athenaswan/index.html
 
Description Sub-committee for Trainee Day ENDO 2013 and 2015
Geographic Reach Multiple continents/international 
Policy Influence Type Influenced training of practitioners or researchers
Impact Organizing content, speakers, learning objectives for trainee day for ENDO 2013 and ENDO 2015.
URL https://endo.confex.com/endo/2013endo/webprogram/WORKSHOP.html
 
Description The Endocrine Society's Trainee and Career Development Core Committee
Geographic Reach Multiple continents/international 
Policy Influence Type Participation in a advisory committee
Impact Membership for 6 years and ability to change policy for trainees and suggest career development opportunities and setting up courses in the next 6 years.
URL https://www.endocrine.org/membership/society-committees
 
Description Adrenal dysfunction and obesity in Down Syndrome
Amount £99,984 (GBP)
Funding ID 217543 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2019 
End 12/2020
 
Description An interdisciplinary ageing alliance: cellular metabolism over a life-course in socioeconomic disadvantaged populations
Amount £202,431 (GBP)
Funding ID BB/W018276/1 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 02/2022 
End 02/2024
 
Description BSPED Research and Innovation Award
Amount £10,000 (GBP)
Organisation Royal College of Paediatrics and Child Health (RCPCH) 
Department British Society for Paediatric Endocrinology and Diabetes (BSPED)
Sector Charity/Non Profit
Country United Kingdom
Start 12/2018 
End 12/2020
 
Description Barts and the London Charity program grant
Amount £500,200 (GBP)
Organisation Barts Charity 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2018 
End 08/2022
 
Description Cell DIVE Imager for automated, single cell, multiplexed immunofluorescence microscopy
Amount £340,339 (GBP)
Funding ID 223803/Z/21/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2021 
End 10/2024
 
Description Clinical Fellowship
Amount £300,000 (GBP)
Organisation Portland Hospital 
Sector Hospitals
Country United Kingdom
Start 08/2021 
End 09/2024
 
Description Developing a novel compound to treat obesity
Amount £29,247 (GBP)
Organisation Barts Charity 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2021 
End 02/2022
 
Description East London Complications of Excess Weight Clinic
Amount £1,050,000 (GBP)
Organisation National Health Service 
Sector Hospitals
Country United Kingdom
Start 01/2022 
End 01/2025
 
Description Genome Editing Mice for Medicine
Amount £15,000 (GBP)
Organisation MRC Harwell 
Sector Academic/University
Country United Kingdom
Start 05/2021 
End 06/2024
 
Description In vivo characterisation of ACTH receptor antagonists
Amount £19,478 (GBP)
Funding ID MGU0458 
Organisation Barts Charity 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2019 
End 02/2020
 
Description International Funding Congenital Adrenal Hyperplasia project grant
Amount £78,000 (GBP)
Organisation International Fund raising for Congenital Adrenal Hyperplasia (IFCAH) 
Sector Charity/Non Profit
Country Global
Start 11/2018 
End 11/2020
 
Description Life Sciences Initiative funding
Amount £10,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2015 
End 04/2016
 
Description MRC Case Studentship
Amount £102,630 (GBP)
Funding ID MR/J006394/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 09/2012 
End 10/2016
 
Description Molecular characterisation of MC2R/MRAP antagonists for the treatment of ACTH excess in pituitary and neuroendocrine tumours.
Amount £108,559 (GBP)
Funding ID 2442100 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2020 
End 03/2024
 
Description Post award amendment MRC
Amount £179,000 (GBP)
Funding ID G0802796 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 06/2015 
End 01/2017
 
Description SC1-BHC-01-2019 - Understanding causative mechanisms in co- and multimorbidities combining mental and non-mental disorders
Amount € 5,965,968 (EUR)
Organisation European Commission H2020 
Sector Public
Country Belgium
Start 01/2020 
End 01/2025
 
Description The investigation of novel genetic causes of adrenal insufficiency
Amount £4,000 (GBP)
Funding ID MGU0483 
Organisation Barts Charity 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2019 
End 07/2020
 
Description Travel Grant from the British Society for Paedaitric Endocrinology and Diabetes
Amount £250 (GBP)
Organisation Royal College of Paediatrics and Child Health (RCPCH) 
Department British Society for Paediatric Endocrinology and Diabetes (BSPED)
Sector Charity/Non Profit
Country United Kingdom
Start 03/2010 
End 03/2010
 
Description Travel Grant from the Society for Endocrinology/The Society for Endocrinology
Amount £750 (GBP)
Organisation Society for Endocrinology 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2010 
End 06/2010
 
Description Travel and substinence grant for Invited speakers/Department of Neuroscience
Amount £405 (GBP)
Organisation Queen Mary University of London 
Sector Academic/University
Country United Kingdom
Start 01/2010 
End 01/2010
 
Description Travel grant
Amount € 500 (EUR)
Organisation European Society of Pediatric Endocrinology (ESPE) 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2013 
End 09/2013
 
Description Travel grant from Novo Nordisk
Amount £500 (GBP)
Organisation Novo Nordisk 
Sector Private
Country Denmark
Start 05/2010 
End 06/2010
 
Description Travel grant to attend ESPE Science school
Amount £500 (GBP)
Organisation Pfizer Ltd 
Sector Private
Country United Kingdom
Start 08/2010 
End 09/2010
 
Title Generation of antibodies 
Description Generation of polyclonal antibody 
Type Of Material Antibody 
Year Produced 2013 
Provided To Others? Yes  
Impact Reagent used in collaborative work. 
 
Title Generation of mouse model 
Description Novel mouse models, 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2018 
Provided To Others? Yes  
Impact Led to a collaboration with another centre and publication: https://pubmed.ncbi.nlm.nih.gov/31700171/, https://pubmed.ncbi.nlm.nih.gov/33026327/ 
URL https://www.ncbi.nlm.nih.gov/pubmed/29879378
 
Title Generation of transgenic mice in collaboration with the Sanger Institute 
Description Development of transgenic mouse in collaboration with the Sanger Institute. This has been used and published: https://pubmed.ncbi.nlm.nih.gov/33026327/, 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2016 
Provided To Others? Yes  
Impact PMID: 27106110 Used and published by others: https://pubmed.ncbi.nlm.nih.gov/33026327/ Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, Lévy-Marchal C, Tauber M, Scharfmann R, Weill J, Aubert C, Kerr-Conte J, Pattou F, Roussel R, Balkau B, Marre M, Boissel M, Derhourhi M, Gaget S, Canouil M, Froguel P, Bonnefond A. Nat Med. 2019 Nov;25(11):1733-1738. doi: 10.1038/s41591-019-0622-0. Epub 2019 Nov 7. PMID: 31700171 
URL http://joe.endocrinology-journals.org/content/230/1/13.long
 
Title Plasmids generated as part of funding from MRC 
Description Plasmids made as part of funding obtained from MRC. 
Type Of Material Technology assay or reagent 
Year Produced 2012 
Provided To Others? Yes  
Impact Shared reagents lead to the following publication: Mol Endocrinol. 2014 Sep;28(9):1547-57. doi: 10.1210/me.2014-1105. Epub 2014 Jul 22. Melanocortin 3 receptor has a 5' exon that directs translation of apically localized protein from the second in-frame ATG. Park J1, Sharma N, Cutting GR. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension. Baron M, Maillet J, Huyvaert M, Dechaume A, Boutry R, Loiselle H, Durand E, Toussaint B, Vaillant E, Philippe J, Thomas J, Ghulam A, Franc S, Charpentier G, Borys JM, Lévy-Marchal C, Tauber M, Scharfmann R, Weill J, Aubert C, Kerr-Conte J, Pattou F, Roussel R, Balkau B, Marre M, Boissel M, Derhourhi M, Gaget S, Canouil M, Froguel P, Bonnefond A. Nat Med. 2019 Nov;25(11):1733-1738. doi: 10.1038/s41591-019-0622-0. Epub 2019 Nov 7. PMID: 31700171 
URL http://www.ncbi.nlm.nih.gov/pubmed/25051171
 
Description Assessment of KO mice 
Organisation University of Cambridge
Department Institute of Metabolic Science (IMS)
Country United Kingdom 
Sector Academic/University 
PI Contribution Intellectual input on assessment of mice.
Collaborator Contribution Sharing of skills of knowledge of metabolic assessment of mice.
Impact Paper submitted.
Start Year 2010
 
Description Collaboration on MC4R structure and signalling 
Organisation Weizmann Institute of Science
Country Israel 
Sector Academic/University 
PI Contribution Intellectual input on melanocortin receptor biology, experiments, supervising of staff and students, writing and reviewing of manuscript.
Collaborator Contribution Expertise in protein modelling and Cryo-EM. Intellectual input, experiments, supervising of staff and students, writing and reviewing of manuscript.
Impact Science. 2021 May 21;372(6544):808-814. doi: 10.1126/science.abf7958. Epub 2021 Apr 15. Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling Hadar Israeli # 1 2 , Oksana Degtjarik # 1 , Fabrizio Fierro 3 4 , Vidicha Chunilal 5 , Amandeep Kaur Gill 5 , Nicolas J Roth 5 , Joaquin Botta 5 , Vadivel Prabahar 1 , Yoav Peleg 6 , Li F Chan 5 , Danny Ben-Zvi 7 , Peter J McCormick 8 , Masha Y Niv 9 4 , Moran Shalev-Benami 10 PMID: 33858992 DOI: 10.1126/science.abf7958
Start Year 2019
 
Description Collaboration on MRAP2 KO mice 
Organisation Boston Children's Hospital
Country United States 
Sector Hospitals 
PI Contribution Working group to devise experiments to be performed on MRAP2 KO mice and also mutations identified in human subjects.
Collaborator Contribution Mouse phenotyping.
Impact Science. 2013 Jul 19;341(6143):275-8. doi: 10.1126/science.1233000. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA. Source Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
Start Year 2010
 
Description Collaboration on MRAP2 PVN over expression 
Organisation Yale University
Country United States 
Sector Academic/University 
PI Contribution Collaborative project during academic visit to Yale - performed experiments, designed project and ideas, writing of manuscript.
Collaborator Contribution Bench space and use of reagents and consumables, sharing of expertise.
Impact Learning of techniques. Publication: Mol Metab. 2018 Dec;18:79-87. doi: 10.1016/j.molmet.2018.09.010. Epub 2018 Oct 4. Overexpression of melanocortin 2 receptor accessory protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure. Bruschetta G, Kim JD, Diano S, Chan LF.
Start Year 2017
 
Description Collaboration on project 
Organisation King's College University Hospital NHS Trust
Country United Kingdom 
Sector Hospitals 
PI Contribution Sharing expertise on a technique and performing laser capture experiments.
Collaborator Contribution Provision of transgenic animals.
Impact PMID: 27791019
Start Year 2014
 
Description Collaboration on project 
Organisation Queen Mary University of London
Country United Kingdom 
Sector Academic/University 
PI Contribution Concept and writing of proposal which was successfully funded. Provision of expertise.
Collaborator Contribution Provision of expertise and supervision.
Impact Funding successful.
Start Year 2015
 
Description Development of MC2R antagonists 
Organisation MRC-Technology
Country United Kingdom 
Sector Private 
PI Contribution Sharing of intellectual knowledge on the topic of melanocortin receptors and system - sharing or reagents and cells.
Collaborator Contribution Performing high throughput screening process.
Impact MRC Case studentship awarded 2012
Start Year 2010
 
Description Equipment grant 
Organisation Queen Mary University of London
Department Blizard Institute
Country United Kingdom 
Sector Academic/University 
PI Contribution Intellectual input and application preparation.
Collaborator Contribution Intellectual input and application preparation.
Impact Wellcome Grant award
Start Year 2021
 
Description Generation of MRAP2 knockout (KO) mice 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Generation of KO mice, with a view to publication. Further analysis may involve behavioural assessment of the KO mouse model as an example of obese mice in general.
Collaborator Contribution Provided advice and skill required for the generation of KO mice.
Impact Generation of KO mouse for phenotyping resulting in publication: Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol. Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn EH, Gorrigan RJ, Tate PH, Guasti L; Sanger Mouse Genetics Project, O'Rahilly S, Clark AJ, Logan DW, Coll AP, Chan LF. J Endocrinol. 2016 Jul;230(1):13-26. doi: 10.1530/JOE-16-0057. Epub 2016 Apr 22. PMID: 27106110
Start Year 2011
 
Description Identification of humans with MRAP2 null mutations 
Organisation University of Cambridge
Department Metabolic Research Laboratories
Country United Kingdom 
Sector Academic/University 
PI Contribution Collaboration in the identification of human cases with MRAP2 null mutations. Determination of the effects of these mutations. Part of working group to determine experiments to be performed on mice.
Collaborator Contribution Sequencing of MRAP2 in human subjects.
Impact Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O'Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA. Science. 2013 Jul 19;341(6143):275-8. doi: 10.1126/science.1233000. Erratum in: Science. 2013 Aug 30;341(6149):959.
Start Year 2010
 
Description Interdisciplinary network collaborations 
Organisation London School of Hygiene and Tropical Medicine (LSHTM)
Country United Kingdom 
Sector Academic/University 
PI Contribution Setting up an interdisciplinary network of investigators and applying for funding.
Collaborator Contribution Contributing their expertise and will be co-pis in the proposal for form an interdisciplinary alliance.
Impact Grant funding.
Start Year 2022
 
Description Interdisciplinary network collaborations 
Organisation Newcastle University
Country United Kingdom 
Sector Academic/University 
PI Contribution Setting up an interdisciplinary network of investigators and applying for funding.
Collaborator Contribution Contributing their expertise and will be co-pis in the proposal for form an interdisciplinary alliance.
Impact Grant funding.
Start Year 2022
 
Description Interdisciplinary network collaborations 
Organisation Queen Mary University of London
Department William Harvey Research Institute
Country United Kingdom 
Sector Academic/University 
PI Contribution Setting up an interdisciplinary network of investigators and applying for funding.
Collaborator Contribution Contributing their expertise and will be co-pis in the proposal for form an interdisciplinary alliance.
Impact Grant funding.
Start Year 2022
 
Description Interdisciplinary network collaborations 
Organisation University of Birmingham
Country United Kingdom 
Sector Academic/University 
PI Contribution Setting up an interdisciplinary network of investigators and applying for funding.
Collaborator Contribution Contributing their expertise and will be co-pis in the proposal for form an interdisciplinary alliance.
Impact Grant funding.
Start Year 2022
 
Description Interdisciplinary network collaborations 
Organisation University of Liverpool
Country United Kingdom 
Sector Academic/University 
PI Contribution Setting up an interdisciplinary network of investigators and applying for funding.
Collaborator Contribution Contributing their expertise and will be co-pis in the proposal for form an interdisciplinary alliance.
Impact Grant funding.
Start Year 2022
 
Description AMS media showcase event at ITN headquarters 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Media (as a channel to the public)
Results and Impact As part of Academy of medical Sciences attended Media Showcase event - met with journalists presented work being undertaken.
Year(s) Of Engagement Activity 2018
 
Description Academy of Medical Science Case Study 
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 Selected for Academy of Medical Science Case Study - wrote a blog which was then placed on AMS tweets and Facebook channels.
Year(s) Of Engagement Activity 2019
URL https://acmedsci.ac.uk/more/news/untangling-childrens-weight
 
Description Blog article for Society for Endocrinology re peer review and career development 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Postgraduate students
Results and Impact Discussion about peer reviewing and benefits of this for career development as well as practical steps to take.
Year(s) Of Engagement Activity 2016
URL https://endocrinologyblog.org/category/top-tips/
 
Description Career talk and discussion with School Children on Work Experience (twice a year) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact Engaging school children in science at an early stage.
Year(s) Of Engagement Activity 2019
URL https://www.qmul.ac.uk/whri/patient-public-engagement/work-experience-programme/
 
Description Career talk at the WHRI work experience programme 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Schools
Results and Impact Career talk and discussion about clinical academia and paths towards this.
Year(s) Of Engagement Activity 2018
 
Description Comment in the Times newspaper 
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 Comment in the Times about treatment of individuals with MC4R mutations using GLP1R agonist.
Year(s) Of Engagement Activity 2018
 
Description First annual Imperial College Endocrinology Society Conference speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Undergraduate students
Results and Impact Imperial College Endocrinology Society Conference invited speaker
Year(s) Of Engagement Activity 2021
URL https://www-d7.imperialcollegeunion.org/activities/a-to-z/endocrinology
 
Description IFCAH family and patient forum 
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 First IFCAH symposium speaker - conference for researchers and families. Contacted after - Change of opinion and further participation.
Year(s) Of Engagement Activity 2021
URL https://ifcah.com/ifcah-first-scientific-symposium-research-fund-on-congenital-adrenal-hyperplasia/
 
Description Imperial medical society inaugural lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Undergraduate students
Results and Impact Inaugural lecture to Imperial Medical Students. Lectures open to international students also.
Year(s) Of Engagement Activity 2021
 
Description Insight into managing growth for endocrine nurses (faculty/panel member) 
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 Faculty and Panel member of the 7th IMAGE meeting.
Year(s) Of Engagement Activity 2020
URL https://paediatric-endocrinology.medwirenews.com/meetings/nurses-meeting/image-2020/meet-the-experts...
 
Description Interaction and engagement with patient groups 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Discussion with patient groups, ultimately forming a consortium and participation with study.
Year(s) Of Engagement Activity 2019
 
Description Interaction companies 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Industry/Business
Results and Impact Interaction of companies regarding drug development programs.
Year(s) Of Engagement Activity 2019
 
Description Invited speaker for SANDOZ educational programme 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited speaker for SANDOZ educational programme: Genetics for the Clinical Paediatric Endocrinologist
in paediatric endocrinology. Talk entitled: Adrenal Insufficiency: Genetics versus Biochemistry in Diagnosis and Therapy.
Year(s) Of Engagement Activity 2017
 
Description Laboratory supervisor for Discovery to Cure High School 8 week Internship at Yale University 
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 Schools
Results and Impact The Discovery to Cure High School Internship Program is designed for high school juniors at least 16 years of age, who will enter senior year in the fall following the program. I supervised one student for an 8 week period. He gave a very good presentation afterwards and applied for pre-med programs to study at University.
Year(s) Of Engagement Activity 2018
URL https://medicine.yale.edu/obgyn/drs/dtcinternship/
 
Description Meeting and presentations to US college students 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Undergraduate students
Results and Impact Invited to give a number of talks including the Long Lecture at the University of Denver - as part of this to talks to undergrads, med students and post grad students about life and training in the UK as a clinician scientist and work-life balance.
Year(s) Of Engagement Activity 2014
 
Description Meeting report 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Type Of Presentation Paper Presentation
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Participation of NiCHe meeting and writing a meeting report to summarise the meeting entitled 'closing the gap between science and child health'

People contacted me for a copy of the meeting report as they found this topic interesting and relevant to them.
Year(s) Of Engagement Activity 2011
 
Description Minority Affairs Mentor and Poster Judge 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Minority Affairs Mentor and Poster Judge
Year(s) Of Engagement Activity 2012
 
Description Minority Affairs Mentor and Poster Judge 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Minority Affairs Mentor and Poster Judge.
Year(s) Of Engagement Activity 2015
 
Description Minority Mentoring evening 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? Yes
Type Of Presentation Workshop Facilitator
Geographic Reach International
Primary Audience Undergraduate students
Results and Impact Sharing experience and discussing options for undergraduate and postgraduate students.

Most of the students who attended fed back that they found the experience very useful.
Year(s) Of Engagement Activity 2011
 
Description Participant on (Academy of Medical Sciences) SUSTAIN programme - quote published regarding work-life balance 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Policymakers/politicians
Results and Impact Selected to participate on Academy of Medical Science programme - quote published in BMJ, Higher Educational times etc.
Year(s) Of Engagement Activity 2015
URL https://acmedsci.ac.uk/grants-and-schemes/mentoring-and-other-schemes/sustain
 
Description Participation of patient group meeting 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Patients, carers and/or patient groups
Results and Impact Meeting at the Institute of Child Health for carers and patients with Congenital Adrenal Hyperplasia.
Year(s) Of Engagement Activity 2016
URL http://www.cahisus.co.uk
 
Description Participation on Academy of Medical Sciences #MedSciLife project 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact #MedSciLife brings together personal stories of those working in medical and health research to promote different working practices and explore how passions and achievements outside work can influence careers.
Year(s) Of Engagement Activity 2017
URL http://www.medscilife.org/stories/dr-li-chan/
 
Description Presentation to trainee paediatric clinicians and nursing staff 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Health professionals
Results and Impact Presentation of work to trainee paediatricians and nursing staff followed by discussion with induviduals about research opportunities and career paths for them to get involved in research.

Contacted by trainees for career advise.
Year(s) Of Engagement Activity 2009
 
Description Profile for international women's day 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Athena SWAN Gallery of SMD Women to celebrate International Women's Day 2017.
Year(s) Of Engagement Activity 2017
URL http://www.smd.qmul.ac.uk/about/athenaswan/profiles/index.html
 
Description Q&A website article 
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 Questions and answers on work undertaken that lead to a recent publication.
Year(s) Of Engagement Activity 2018
URL https://www.qmul.ac.uk/whri/news-and-events/items/qa-with-dr-li-chan.html
 
Description QMUL press release for publication 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Press release relating to publication.

Public dissemination of science
Year(s) Of Engagement Activity 2013
 
Description SUSTAIN participant highlighting difficulties for female researchers 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Policymakers/politicians
Results and Impact SUSTAIN is a pilot programme for women researchers to thrive in their independent research careers. It provides an innovative programme of training and support to develop participants' leadership and career.

AMS announces continuation of this programme due to successes and feedback.
Year(s) Of Engagement Activity 2016
URL https://www.youtube.com/watch?v=mHpOQL5mhO4
 
Description Social Mobility Foundation (Medicine Futures Day) 
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 This networking session involves speaking to small groups of students and answering any questions they may have on the medical application process and practising medicine. The session mirrors speed networking where you will talk to a group for around 15-20 minutes, then move on to the next one and so on. The idea is that the more shy students have the opportunity to speak to you in smaller groups, which they may not do when faced with a larger group.
Year(s) Of Engagement Activity 2016
URL http://www.socialmobility.org.uk/2016/06/futures-days/
 
Description Social Mobility Foundation Mentor 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Mentor for the Social Mobility Foundation - involves mentoring students through the University application process for Science and Medicine. During the process I introduce my mentees to academic medicine.
Year(s) Of Engagement Activity 2015,2016
URL http://www.socialmobility.org.uk
 
Description Study participant video 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Study participants or study members
Results and Impact Video made for EU consortium study
Year(s) Of Engagement Activity 2021
URL https://www.youtube.com/watch?v=JRB1bu0FrBM
 
Description Talk to paediatric endocrinology nurses around the country 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited to return to talk about the 'adrenal gland' to paediatric endocrine nurses throughout the UK.
Year(s) Of Engagement Activity 2018
URL http://www.bsped.org.uk/nurses/nurses_training.aspx
 
Description Talk to trainee paedaitricians about academic medicine 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Talk to trainees (returning to work post maternity leave) about academic medicine and work-life balance.
Year(s) Of Engagement Activity 2015
 
Description Talk to visiting US college students 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Seminar for visiting US college students who were on a tour in London to study the history of medicine. Seminar entitled "How new scientific developments are changing the way we diagnose and treat diseases in children". This was followed by a questions and answers session.

Discussion of history of medical discoveries. Ongoing programme for US students - establishing links with QMUL.
Year(s) Of Engagement Activity 2010
 
Description Training paediatric endocrine nurses 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Training of paediatric endocrine nurses on 'The Adrenal Gland".
Year(s) Of Engagement Activity 2017
URL http://www.bsped.org.uk/nurses/nurses_training.aspx
 
Description Undergraduate week work experience 
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 Undergraduate students
Results and Impact Student laboratory work experience in research which prompted the student to organise and undertake further research in Sydney, Australia.
Year(s) Of Engagement Activity 2017
 
Description William Harvey Research Foundation lay communication finalist/winner (team member) 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Lay communication finalist- second place prize winner.
Year(s) Of Engagement Activity 2020
URL https://vimeo.com/448844059