Robin Ali BSc PhD FSB FMedSci - Brief Curriculum Vitae January 2017

Professor of Human Molecular Genetics

UCL Institute of Ophthalmology
[email protected]

Qualifications

1993 PhD Genetics, University College London

1988 BSc Genetics, University College London

Current Appointments

2017 - President, European Society of Gene and Cell Therapy

2015 - Chief Scientific Officer, MeiraGtx Ltd
2015 - Director, Wolfson Gene Therapy Unit (UCL facility for GMP vector manufacture)
2014 - Visiting Professor, Kellogg Eye Center, University of Michigan
2011 - Theme leader (Gene Therapy), NIHR Biomedical Research Centre, Moorfields Eye Hospital
2009 - Chief Scientific Advisor, Fighting Blindness, Ireland
2008 - Head, Department of Genetics, UCL Institute of Ophthalmology
2003 - Professor of Human Molecular Genetics, UCL Institute of Ophthalmology

Previous academic appointments

2001 - 2003 Reader in Physiology, UCL Institute of Ophthalmology

1999 - 2001 Lecturer, UCL Institute of Ophthalmology
1994 - 1998 Senior Research Fellow, UCL Institute of Ophthalmology
1992 - 1994 Postdoctoral Scientist, MRC National Institute for Medical Research, London

Previous industrial appointments

2012 - 2013 Retina Institute, Japan - Scientific Advisory Board

2011 Regeneron Inc., USA - Consultant
2010 - 2015 ReGenX BioSciences, USA - Medical Advisory Board
2010 - 2014 Alcon Pharmaceuticals, USA - Scientific Advisory Board
2007 Third Rock Ventures, USA - Consultant
2005 - 2007 Amsterdam Molecular Therapeutics, Netherlands - Scientific Advisory Board
2002 - 2014 Oxford Biomedica PLC, UK - Consultant

Other Appointments and Affiliations

(i) Funding Boards: From 2015 Research to Prevent Blindness, New York, Scientific Advisory Board 2012-
2015 Telethon Italy, Scientific Committee 2011 - L'Agence nationale de la recherché (ANR), France, (University
Hospital Institutes Jury) 2010-2013 UK Medical Research Council, Neuroscience and Mental Health Board
2011-2014 UK Medical Research Council, Regenerative Medicine Research Committee 2009 Health Research
Board, Ireland (Molecular and Cellular Medicines Committee) From 2008 Fighting Blindness, Ireland (Chair of
Scientific and Medical Advisory Board) From 2006 UK Multiple Sclerosis Society (Advisory Board for Myelin
Repair Centres, Edinburgh & Cambridge) (ii) Editorial Boards: From 2008 Gene Therapy (Associate Editor
from 2011) From 2007 Expert Review of Ophthalmology From 2005 Regenerative Medicine 2002 – 2006
British Journal of Ophthalmology (iii) International Societies: From 2011 Board member European Society of
Gene and Cell Therapy 2008 - 2011 UK Academy of Medical Sciences - Sectional Committee (Biochemistry,
Molecular Biology, Immunology, Microbiology, Genetics and Developmental Biology) (iv) Prize Committees:
2012: Association for Research on Vision and Ophthalmology (ARVO) – selection committee for Merk
Innovative Ophthalmology Research Awards From 2011: Foukes Foundation Medal Committee 2010: Sir Jules
Thorn Charitable Trust Biomedical Research Award Committee From 2009: Worshipful Company of Spectacle
Makers (Ruskell Medal (v) International Meeting Committees: 2010- 2016 American Society of Gene and Cell
Therapy – Neurologic and Ophthalmic Gene and Cell Therapy Committee From 2007 British Society for Gene
and Cell Therapy – Program Organisation Committee From 2007 European Society of Gene and Cell Therapy
– Scientific Committee on Genetic and Metabolic Diseases

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 Honours/Prizes/Awards

2016 Election to Royal Society of Biology

2014 Prevention of Blindness Shield, Saudi Ophthalmology Society
2013 European Research Council – Advanced Award
2010 Association for Research into Vision and Ophthalmology/Pfizer Carl Camras Translational
Research Award ($10k unrestricted prize)
2009 Alcon Research Institute Award ($200k unrestricted prize)
2009 Elected Senior Investigator, National Institute for Health Research
2009 Foundation Fighting Blindness (FFB) Board of Directors Award
2007 Foulkes Foundation Medal (Academy of Medical Sciences)
2007 Elected to UK Academy of Medical Sciences
2005 Jesse Mole Medal (British Retinitis Pigmentosa Society)
2004 Fincham Medal (The Worshipful Company of Spectacle Makers)
2001 GlaxoSmithKline Award for Medical Research
2001 The Sir Jules Thorn Award for Biomedical Research
1988 EMBO Molecular Biology Fellowship (Rome)

KeyNote and Named Lectures

2016 Brian Harcott Lecture – University of Leeds 2013 Steve Podos Colloquium Lecture, Alcon Research
Institute, Seattle, JD Allen Lecture, University of Ottawa, Canada 2012 Pascol Rol Keynote Lecture, SPIE XXII
Ophthalmic Technologies Conference, San Francisco 2011 Asia Association for Vision Research and
th
Ophthalmology, Singapore; 18 International Chromosome Conference, Manchester, UK; COBRE
Distinguished Vision Lecture, University of Oklahoma 2010 Elsemay Bjorn Lecture (Finnish Association for Eye
Research), Tampere, Finland; Annual Congress of Japanese Ophthalmology, Kobe, Japan; Gordon Research
Conference on Visual System Development, Barga Italy 2008 Cole Eye Distinguished Lecture, Cleveland Clinic,
Ohio 2005 Jesse Mole Lecture, University of Oxford 2006 British Association of Optometry Annual Meeting
2004 Fincham Lecture, City University of London.

Engagement with policymakers

I provide gene and cell therapy input regularly for a wide range of policy forums, including UK Research
Councils/Government Departments/Academy of Medical Sciences/ MHRA. Some recent examples of
engagement with policymakers include: 2012 - Oral evidence to House of Lords Science and Technology Select
Committee (enquiry on regenerative medicine); 2012 - Chair for Cross Council Workshop on New Approaches
to Improving Hearing Devices (MRC and EPSRC). Will report 2013; 2012 - Organising Committee, Joint MHRA-
MRC-Academy Medical Sciences - ABPI workshops to develop regulatory framework for regenerative medicine
involving cell transplantation; 2012 - Participant, Joint Academies workshop on 'Human enhancement and
the future of work' (Royal Society, Royal Academy of Engineering, Academy Medical Sciences, British
Academy)- provided input on prospects for enhancing vision; 2012 – Participant 'New Strategy for UK
Regenerative Medicine' On behalf of the 4 UK Research Council plus Technology Strategy Board - provided
MRC input on gene and cell therapy; 2010 - Participant, 'Technology and Innovation Futures Project Workshop'.
Commissioned by Government Office for Science. Participants from 4 UK Research Councils, industry,
government - provided gene and cell therapy input. Report published 2011

Current grants

Biotechnology and Biological Sciences Research Council

* Regulation of epithelial apical membrane 01/2014 -12/2017
differentiation and function (Matter, Balda, Ali)

European Research Council

* Generation of stem cell derived photoreceptors for the 08/2013 -07/2018
treatment and modelling of retinal degeneration (Ali)

National Institute for Health Research

* NIHR Senior Investigator Award (Ali) 04/2014 - 03/2018
* NIHR Biomedical Research Centre at Moorfields Eye Hospital 04/2017 - 03/2022
Support for Gene Therapy Theme (Ali)

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RP Fighting Blindness
* Maintaining effective antioxidant capacity in a degenerating retina: 01/2014 - 07/2017
a genetic approach to treatment in (Ali, Wright, Murphy)
* Centre for the Development of Gene Therapy 08/2011 - 01/2017
for Inherited Retinal Dystrophies (Ali, Bainbridge, Michaelides)

Special Trustees Moorfields Eye Hospital

* Refurbishment of human embryonic stem cell facility (Ali) 07/2016 - 12/2016
* Retinal repair for Stargardt’s macular degeneration (Ali, Bainbridge) 06/2016 - 04/2019

The European Union

* BATCURE – Developing new therapies for Batten disease (Ali, Mole) 01/2016 - 12/2018

The Medical Research Council

* Using cell surface antigens for the isolation of human photoreceptor 10/2015 - 09/2018
precursor cells for retinal stem cell therapy (Sowden, Ali)
* A flow cytometry facility for ocular regenerative medicine 04/2014 - 03/2019
(Ali, Bainbridge, Coffey, Daniels, Khaw, Limb, and Pearson)
* Clinical trial of gene therapy for the treatment of 03/2015 - 02/2020
Leber congenital amaurosis (Ali, Bainbridge, and Michaelides)
* UKRMP Partnership Project Award – 01/2014 - 11/2017
Microparticles for cell and drug delivery (Ali)
* UKRMP Immunomodulation Hub – Overcoming immunological 09/2014 - 08/2018
barriers to regenerative medicine (Ali)
* Optimisation of human ESC-derived photoreceptor cell 12/2014 - 11/2018
differentiation (Ali)
* Clinical trial of gene therapy for the treatment of achromatopsia 10/2013 - 09/2018
(Ali, Bainbridge, Michaelides)
* Development of stem cell therapy to restore photopic vision 01/2012 - 12/2016
(Ali, Sowden, Pearson)

The Wellcome Trust

* Development of an AAV vector treatment of Batten disease 10/2016 - 03/2018
caused by mutations in TPP1 (CLN2 Disease) (Mole and Ali)
* Retina Patient Days – Engaging patients with gene 05/2012 - 10/2016
and cell therapy research (Ali, Bainbridge, and Morrison)
* Equipment Grant: High resolution retinal imaging 10/2012 - 09/2017
(Rhurberg, Ali, Cheetham, Cordiero, Greenwood, Matter,
Michaelides, Moss, Rees, and Webster)

Selected Publications from >170 peer reviewed publications since 1996; H-index of 60.

1) Donor and host photoreceptors engage in material transfer following transplantation of post-mitotic
photoreceptor precursors. Pearson,R.A., Gonzalez-Cordero,A., West,E.L., Ribeiro,J.R., Aghaizu,N., Goh,D.,
Sampson,R.D., Georgiadis,A., Waldron,P.V., Duran,Y., Naeem,A., Kloc,M., Cristante,E., Kruczek,K., Warre-
Cornish,K., Sowden,J.C., Smith,A.J., and Ali,R.R. Nat. Commun. 2016 7: 13029

2) Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in
RPE65.Georgiadis A, Duran Y, Ribeiro J, Abelleira-Hervas L, Robbie SJ, Sunkel-Laing B, Fourali S, Gonzalez-
Cordero A, Cristante E, Michaelides M, Bainbridge JW, Smith AJ, Ali RR. Gene Ther. 2016 23: 857-862

3) Long-term effect of gene therapy on Leber's congenital amaurosis. Bainbridge JW, Mehat MS, Sundaram V,
Robbie SJ, Barker SE, Ripamonti C, Georgiadis A, Mowat FM, Gardner PJ, Feathers KL, Luong VA, Yzer S,
Balaggan K,Tyler N, Fitzke FW, Weleber RG, Nardini M, Moore AT, Thompson DA, Petersen-Jones SM,
Michaelides M, van den Born LI, Stockman A, Smith AJ, Rubin G, Ali RR. N Engl J Med. 2015 372(20):1887-97

4) Transplantation of Photoreceptor Precursors Isolated via a Cell Surface Biomarker Panel From Embryonic
Stem Cell-Derived Self-Forming Retina. Lakowski J, Gonzalez-Cordero A, West EL, Han YT, Welby E, Naeem
A, Blackford SJ, Bainbridge JW, Pearson RA, Ali RR, Sowden JC. Stem Cells. 2015 33(8):2469-82.

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5) Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179. Nishiguchi KM,
Carvalho LS, Rizzi M, Powell K, Holthaus SM, Azam SA, Duran Y, Ribeiro J, Luhmann UF, Bainbridge JW,
Smith AJ, Ali RR. Nat Commun. 2015 6:6006.

6) Effective transplantation of photoreceptors isolated from three-dimensional cultures of embryonic stem cell-
derived retina. Gonzalez-Cordero A, West EL, Pearson RA, Duran YCarvalho LS, Chu CJ, Naeem A, Blackford
SJI, Georgiadis A, Lakowski J, Hubank M, Bainbridge JWB, Smith AJ, Sowden JC, Ali RR. Nature
Biotechnology 2013 31 (8): 741-747

7) Repair of the degenerate retina by photoreceptor transplantation. Barber AC, Hippert C, Duran Y, West EL,
Bainbridge JWB, Warre-Cornish K, Luhmann UFO Lakowski J, Sowden JC, Ali RR and Pearson RA. Proc Natl
Acad Sci 2013 110 (1):354-359.

8) Restoration of vision following transplantation of photoreceptors. RA Pearson, AC Barber, M Rizzi, C Hippert,

T Xue, EL West, Y Duran, AJ Smith, JZ Chuang, SA Azam, UFO Luhmann, A Benucci, CH Sung, JW
Bainbridge, M Carandini, KW Yau, JC Sowden, RR Ali Nature 2012 485 (7396): 99-103

9) Defining the integration capacity of embryonic stem cell-derived photoreceptor precursors. EL West, A
Gonzalez-Cordero, RA Pearson, JC Sowden, M Takahashi, RR Ali Stem Cells 2012; 30 (7):1424-35

10) Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression. J
Lakowski, YT Han, RA Pearson, A Gonzalez-Cordero, EL West, S Gualdoni, AC Barber, M Hubank, RR Ali and
JC Sowden Stem Cells. 2011; 29 (9): 1391-404

11) Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated
achromatopsia following gene therapy. LS Carvalho, J Xu, RA Pearson, AJ Smith, JW Bainbridge, LM Morries,
SJ Fliesler, XQ Ding and RR Ali. Human Molecular Genetics 2011; 20 (16): 3161-75

12) Long-term preservation of cones and improvement in visual function following gene therapy in a mouse
model of Leber congenital amaurosis (LCA) caused by GC1 deficiency. M Mihelec, RA Pearson, SJ Robbie, PK
Buch, WB Bainbridge, AJ Smith and RR Ali Human Gene Therapy 2011; 22 (10): 1179-90

13) Long term survival of photoreceptors transplanted into the adult murine neural retina requires immune
modulation. EL West, RA Pearson, SE Barker, UF Luhmann, RE MacLaren, AC Barber, Y Duran, AJ Smith, JC
Sowden and RR Ali. Stem Cells 2010; 28 (11): 1997-2007

14) Assessment of ocular transduction using single stranded and self-complementary recombinant adeno-
associated virus serotype 2/8. M Natkunaraja, PTrittibach, J McIntosh, Y Duran, SE Barker, AJ Smith, AC
Nathwani and RR Ali Gene Ther. 2008; 15 (6): 463-7

15) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective
rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/8 vectors. MH Tan, AJ Smith, B
Pawlyk, X Xu, X Liu, JW Bainbridge, M Basche, J McIntosh, HV Tran, A Nathanwi, T Li and RR Ali Human
Molecular Genetics 2009; 18 (12): 2099-114

16) Effect of gene therapy on visual function in Leber Congenital Amaurosis. JWB Bainbridge, AJ Smith, SE
Barker, S Robbie, R Henderson, KS Balaggan, A Viswanathan, GE Holder, A Stockman, N Tyler, S Petersen-
Jones, SS Bhattacharya, AJ Thrasher, FW Fitzke, GS Rubin, AT Moore and RR Ali New England Journal of
Medicine 2008; 358 (21): 2231-9

17) Effective gene therapy with non-integrating lentiviral vectors. RJ Yáñez-Muñoz, KS Balaggan, A MacNeil, S
Howe, M Schmidt, AJ Smith, P Buch, RE MacLaren, PN Anderson, SE Barker, Y Durán, C Bartholomae, C Von
Kalle, JR Heckenlively, C Kinnon, RR Ali and AJ Thrasher Nature Medicine 2006; 12 (3) :348-353

18) Retinal repair by transplantation of photoreceptor precursors. RE MacLaren, RA Pearson, A MacNeil, RH

Douglas, TE Salt, M Akimoto, A Swaroop, JC Sowden and RR Ali Nature 2006; 444 (7116): 203-207

19) AAV-mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa. AJ
Smith, FC Schlichtenbrede, JW Bainbridge, AJ Thrasher and RR Ali Molecular Therapy 2003;8 (2): 118-195

20) Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.
RR Ali, G Sarra, C Stephens, M de Alwis, JWB Bainbridge, PM Munro, S Fauser, MB Reichel, C Kinnon, DM
Hunt, SS Bhattacharya and AJ Thrasher Nature Genetics 2000; 25 (3): 306-310