Development of AAV gene therapy for blindness caused by cone-rod dystrophy
Lead Research Organisation:
University of Oxford
Department Name: Clinical Neurosciences
Abstract
Cone-rod dystrophies (CRDs) are common genetic (inherited) causes of irreversible and incurable blindness. Individuals with cone-rod dystrophies are born with normally functioning eyes but go on to develop progressive loss of central vision, loss of colour vision, and later, loss of peripheral and night vision. CRDs are highly variable, with different ages of onset, severity and rates of progression and are associated with different genetic mutations ('mistakes' within the genetic code). Such disorders often become manifest in middle-age, and can progress rapidly with severe physical, financial, social and psychological harm to the individual and their families.
One particular mutation that is associated with CRDs is in a gene called cadherin-1 (CDHR1). This gene codes for a protein that regulates the structure of part of the cone and rod photoreceptors - the photosensitive cells in the retina that detect light. This gene has been implicated in the development of a specific form of severe CRD that has been described in the Faroe Islands, the United Kingdom and elsewhere with onset in late childhood. However, new data suggest that mutations in the CDHR1 gene are a more common cause of CRD that previously considered.
The aim of this PhD is to develop a new treatment strategy for CRD associated with the CDHR1 mutation. The suggested approach involves inserting healthy cadherin-1 genes into eyes of mice who are deficient for this gene using a specially engineered virus (AAV) containing the healthy human cadherin-1 gene. It is anticipated that through this gene transfer, that photoreceptor cells should have a normal amount of the healthy protein, thus preserving cone and rod photoreceptors and maintaining vision. The virus, which has no capacity to replicate and in itself cause disease, will be delivered to cone photoreceptor cells through an injection underneath the retina. This strategy has previously proved successful in restoring vision in a number of mouse models of retinal degenerative disease and in early human clinical trials for other retinal diseases.
In my PhD project, I will aim to characterize the mouse which has had the cadherin gene removed, develop a new AAV viral vector which carries the healthy cadherin-1 gene, inject the virus under the retina of such mice and prove that the harmful effects of the gene mutation to the mouse retina have been reversed. I will optimize the efficiency of the viral vector to ensure that fewer viral particles are delivered (thus minimising any potential side-effects), whilst allowing for the normal levels of healthy cadherin-1 are produced to rescue the degenerating retina in cone-rod dystrophy.
In addition, I will study human patients with cone-rod dystrophy associated with CDHR1 gene mutations identified from genetic registries. I will characterize the nature of the genetic mutations in such patients, and describe the clinical features of this form of cone-rod dystrophy. In particular, we hope to identify patients with a newly described mutation in CDHR1, which is not currently detected by a common form of genetic testing. This clinical data will inform and refine the laboratory-based gene therapy experiments to allow us greater insights into the human disease that we seek to cure. It will also allow us to identify the optimal time in the course of the disease to treat these patients with gene therapy in the future.
It is my hope that this work will form the basis for a clinical trial in human subjects with cone-rod dystrophy and that I can be active in overseeing this transition in the years following my PhD. The ultimate goal of this project is thus to develop a genetic technology which may slow or even halt the progression of this hitherto untreatable and blinding retinal disease. It has the potential to impart a significant improvement in quality of life and ability to work for many thousands of individuals with cone-rod dystrophy across the world.
One particular mutation that is associated with CRDs is in a gene called cadherin-1 (CDHR1). This gene codes for a protein that regulates the structure of part of the cone and rod photoreceptors - the photosensitive cells in the retina that detect light. This gene has been implicated in the development of a specific form of severe CRD that has been described in the Faroe Islands, the United Kingdom and elsewhere with onset in late childhood. However, new data suggest that mutations in the CDHR1 gene are a more common cause of CRD that previously considered.
The aim of this PhD is to develop a new treatment strategy for CRD associated with the CDHR1 mutation. The suggested approach involves inserting healthy cadherin-1 genes into eyes of mice who are deficient for this gene using a specially engineered virus (AAV) containing the healthy human cadherin-1 gene. It is anticipated that through this gene transfer, that photoreceptor cells should have a normal amount of the healthy protein, thus preserving cone and rod photoreceptors and maintaining vision. The virus, which has no capacity to replicate and in itself cause disease, will be delivered to cone photoreceptor cells through an injection underneath the retina. This strategy has previously proved successful in restoring vision in a number of mouse models of retinal degenerative disease and in early human clinical trials for other retinal diseases.
In my PhD project, I will aim to characterize the mouse which has had the cadherin gene removed, develop a new AAV viral vector which carries the healthy cadherin-1 gene, inject the virus under the retina of such mice and prove that the harmful effects of the gene mutation to the mouse retina have been reversed. I will optimize the efficiency of the viral vector to ensure that fewer viral particles are delivered (thus minimising any potential side-effects), whilst allowing for the normal levels of healthy cadherin-1 are produced to rescue the degenerating retina in cone-rod dystrophy.
In addition, I will study human patients with cone-rod dystrophy associated with CDHR1 gene mutations identified from genetic registries. I will characterize the nature of the genetic mutations in such patients, and describe the clinical features of this form of cone-rod dystrophy. In particular, we hope to identify patients with a newly described mutation in CDHR1, which is not currently detected by a common form of genetic testing. This clinical data will inform and refine the laboratory-based gene therapy experiments to allow us greater insights into the human disease that we seek to cure. It will also allow us to identify the optimal time in the course of the disease to treat these patients with gene therapy in the future.
It is my hope that this work will form the basis for a clinical trial in human subjects with cone-rod dystrophy and that I can be active in overseeing this transition in the years following my PhD. The ultimate goal of this project is thus to develop a genetic technology which may slow or even halt the progression of this hitherto untreatable and blinding retinal disease. It has the potential to impart a significant improvement in quality of life and ability to work for many thousands of individuals with cone-rod dystrophy across the world.
Technical Summary
Cone-rod dystrophies (CRD) are an important genetic cause of irreversible, central visual loss. Gene therapy represents a logical therapeutic strategy to prevent or delay the onset of visual loss in patients with CRD. Next generation sequencing has identified CDHR1 mutations as a more common cause of CRD than previously considered (Charbel Issa, unpublished data). There are patients in the UK with CDHR1-associated CRD who may benefit from gene therapy.
Proof of principle studies of gene therapy in other forms of inherited eye disease have demonstrated safety and efficacy in preserving the central vision in patients with other retinal degenerations. Gene therapy as a cure for CDHR1-related CRD has not been attempted, yet it is an ideal model to study gene therapy for CRDs in that: (1) the associated CRD has a relatively late onset with rapid decline and wide therapeutic window, (2) the relatively small size of CDHR1 (2,580 base pairs) allows AAV encoding of the transgene, (3) a CHDR1-/- mouse is available for the development of gene therapy. This has never been attempted; all experiments suggest here will be novel.
I intend to phenotype the CHDR1-/- mouse using a variety of imaging, electrophysiological and histological techniques. I will then construct an adeno-associated viral vector (AAV-8) to restore visual function in CDRH1-/- mice using the identified outcome measures. In parallel, I intend to characterize the human phenotype in patients with CDHR1-associated CRDs identified from next generation sequencing databases. This will assist in identifying the optimal time in the course of the disease to undertake gene therapy in future clinical trials. The laboratory study and clinical phenotyping will be complementary in the targeted development of gene therapy for CDHR1-related CRD.
This project will enable a greater understanding of human CDHR1-related CRD, and attempt to develop a gene therapy treatment to cure a currently blinding disease of the retina.
Proof of principle studies of gene therapy in other forms of inherited eye disease have demonstrated safety and efficacy in preserving the central vision in patients with other retinal degenerations. Gene therapy as a cure for CDHR1-related CRD has not been attempted, yet it is an ideal model to study gene therapy for CRDs in that: (1) the associated CRD has a relatively late onset with rapid decline and wide therapeutic window, (2) the relatively small size of CDHR1 (2,580 base pairs) allows AAV encoding of the transgene, (3) a CHDR1-/- mouse is available for the development of gene therapy. This has never been attempted; all experiments suggest here will be novel.
I intend to phenotype the CHDR1-/- mouse using a variety of imaging, electrophysiological and histological techniques. I will then construct an adeno-associated viral vector (AAV-8) to restore visual function in CDRH1-/- mice using the identified outcome measures. In parallel, I intend to characterize the human phenotype in patients with CDHR1-associated CRDs identified from next generation sequencing databases. This will assist in identifying the optimal time in the course of the disease to undertake gene therapy in future clinical trials. The laboratory study and clinical phenotyping will be complementary in the targeted development of gene therapy for CDHR1-related CRD.
This project will enable a greater understanding of human CDHR1-related CRD, and attempt to develop a gene therapy treatment to cure a currently blinding disease of the retina.
Planned Impact
1. Quality of life of patients currently afflicted with incurable forms of blindness.
2. Cost to the NHS of patients currently afflicted with incurable forms of blindness.
3. Cost to the economy of patients currently afflicted with incurable forms of blindness.
Benefit to patients
The proposed technology is directly relevant to preserving the sight of patients who are gradually going blind from photoreceptor loss caused by cone-rod dystrophies. Affecting more than 1 in 40,000 individuals, cone-rod dystrophies result in progressive loss of central vision, colour vision, followed late by night-blindness and peripheral retinal degeneration. Cone-rod dystrophies often present in middle-age and are consequently financially, socially and psychologically devastating both to patients and their families. Currently, there is no treatment available for any form of cone-rod dystrophy. It is highly likely that patients with cone-rod dystrophies will benefit directly through the development of a clinical trial at the end of this project. Professor Robert MacLaren has a strong track record of developing laboratory research into new treatments for patients who are blind with incurable retinal disease. Patients with CDHR-related cone-rod dystrophy would find news of this research encouraging.
Benefit to the NHS
The cost of blindness is significant and is largely borne by the government in the UK. The cost of a guide dog is approximately £50,000 for 12 years and the cost of an electronic retinal implant is in the region of £100,000 based on the Second Sight device. A gene therapy which halts or slows down photoreceptor loss may not only be more effective in the long run but it is possible that it may become more affordable if the technology is more widely adopted.
Benefit to the economy
The United Kingdom already occupies a leading international position in biotechnology research. Successful results in NHS funded clinical trials led by Professor Robert MacLaren have been reported around the world and have further highlighted the important role of UK research in developing new treatments for blindness. The high-profile research in Oxford further underlies the reputation the UK holds as a centre of excellence for biomedical research.
2. Cost to the NHS of patients currently afflicted with incurable forms of blindness.
3. Cost to the economy of patients currently afflicted with incurable forms of blindness.
Benefit to patients
The proposed technology is directly relevant to preserving the sight of patients who are gradually going blind from photoreceptor loss caused by cone-rod dystrophies. Affecting more than 1 in 40,000 individuals, cone-rod dystrophies result in progressive loss of central vision, colour vision, followed late by night-blindness and peripheral retinal degeneration. Cone-rod dystrophies often present in middle-age and are consequently financially, socially and psychologically devastating both to patients and their families. Currently, there is no treatment available for any form of cone-rod dystrophy. It is highly likely that patients with cone-rod dystrophies will benefit directly through the development of a clinical trial at the end of this project. Professor Robert MacLaren has a strong track record of developing laboratory research into new treatments for patients who are blind with incurable retinal disease. Patients with CDHR-related cone-rod dystrophy would find news of this research encouraging.
Benefit to the NHS
The cost of blindness is significant and is largely borne by the government in the UK. The cost of a guide dog is approximately £50,000 for 12 years and the cost of an electronic retinal implant is in the region of £100,000 based on the Second Sight device. A gene therapy which halts or slows down photoreceptor loss may not only be more effective in the long run but it is possible that it may become more affordable if the technology is more widely adopted.
Benefit to the economy
The United Kingdom already occupies a leading international position in biotechnology research. Successful results in NHS funded clinical trials led by Professor Robert MacLaren have been reported around the world and have further highlighted the important role of UK research in developing new treatments for blindness. The high-profile research in Oxford further underlies the reputation the UK holds as a centre of excellence for biomedical research.
People |
ORCID iD |
Imran Yusuf (Principal Investigator / Fellow) |
Publications
Birtel J
(2021)
Diagnosis of Inherited Retinal Diseases.
in Klinische Monatsblatter fur Augenheilkunde
Ceran BB
(2021)
Comment on: Safety of phakic intraocular collamer lens implantation in 95 highly myopic special-needs children.
in Journal of cataract and refractive surgery
Chandler LC
(2021)
Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina.
in Molecular therapy. Methods & clinical development
Chandler LC
(2020)
Immunomodulatory Effects of Hydroxychloroquine and Chloroquine in Viral Infections and Their Potential Application in Retinal Gene Therapy.
in International journal of molecular sciences
Charbel Issa P
(2019)
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping
in Investigative Opthalmology & Visual Science
Farag S
(2024)
Hypomorphic CDHR1 variants may result in retinitis pigmentosa with relative preservation of cone function.
in Ophthalmic genetics
GreenSurg Collaborative
(2023)
Elective surgical services need to start planning for summer pressures.
in The British journal of surgery
Latasiewicz M
(2017)
Hydroxychloroquine retinopathy: an emerging problem.
in Eye (London, England)
Lotery AJ
(2018)
Requirement for retinal screening in patients taking hydroxychloroquine and chloroquine.
in The British journal of general practice : the journal of the Royal College of General Practitioners
Menghini M
(2019)
A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1.
in Ophthalmic genetics
Poli F
(2021)
Retinopathy in Malignant Hypertension.
in The New England journal of medicine
Poli FE
(2023)
MERTK missense variants in three patients with retinitis pigmentosa.
in Ophthalmic genetics
Poli FE
(2023)
Correlation Between Fundus Autofluorescence Pattern and Retinal Function on Microperimetry in Choroideremia.
in Translational vision science & technology
Ratnarajan G
(2018)
The effect of trabeculectomy surgery on the central visual field in patients with glaucoma using microperimetry and optical coherence tomography.
in Eye (London, England)
Swampillai AJ
(2022)
Confidence of UK Ophthalmology Registrars in Managing Posterior Capsular Rupture: Results from a National Trainee Survey.
in Ophthalmology and therapy
Von Krusenstiern L
(2023)
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
in JAMA ophthalmology
Waldock WJ
(2024)
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping.
in Ophthalmic genetics
Worth C
(2018)
An audit of the use of hydroxychloroquine in rheumatology clinics.
in Rheumatology advances in practice
Yusuf I
(2021)
New recommendations for retinal monitoring in hydroxychloroquine users: baseline testing is no longer supported
in British Journal of Dermatology
Yusuf I
(2023)
Unmet needs and future perspectives in hydroxychloroquine retinopathy
in Frontiers in Medicine
Yusuf I
(2021)
Optic disc optical coherence tomography imaging through a black intraocular lens
in Clinical and Experimental Optometry
Yusuf IH
(2019)
Monitoring for retinal toxicity in patients taking hydroxychloroquine and chloroquine.
in Rheumatology (Oxford, England)
Yusuf IH
(2021)
CDHR1-related late-onset macular dystrophy: further insights.
in Eye (London, England)
Yusuf IH
(2022)
Paediatric vitreous haemorrhage secondary to clinically occult, anomalous hyaloid and peripapillary arteries demonstrated by OCT-A.
in Eye (London, England)
Yusuf IH
(2021)
Comment on: Effect of residual astigmatism on uncorrected visual acuity and patient satisfaction in pseudophakic patients.
in Journal of cataract and refractive surgery
Yusuf IH
(2023)
Infographic: Early vitrectomy for severe vitreous hemorrhage in diabetic retinopathy: two-year results from the Diabetic Retinopathy Vitrectomy Study.
in Eye (London, England)
Yusuf IH
(2017)
Integrating retinal simulation with a peer-assessed group OSCE format to teach direct ophthalmoscopy.
in Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Yusuf IH
(2022)
Novel imaging techniques for hydroxychloroquine retinopathy.
in Frontiers in medicine
Yusuf IH
(2018)
The Royal College of Ophthalmologists recommendations on screening for hydroxychloroquine and chloroquine users in the United Kingdom: executive summary.
in Eye (London, England)
Yusuf IH
(2021)
Comment on: Effect of anti-inflammatory regimen on early postoperative inflammation after cataract surgery.
in Journal of cataract and refractive surgery
Yusuf IH
(2018)
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
in Ophthalmic genetics
Yusuf IH
(2023)
Infographic: Eplerenone for chronic central serous chorioretinopathy in patients with active, previously untreated disease for more than 4 months: the VICI study.
in Eye (London, England)
Yusuf IH
(2017)
Hydroxychloroquine retinopathy.
in Eye (London, England)
Yusuf IH
(2023)
Infographic: Ranibizumab plus panretinal photocoagulation (PRP) versus PRP alone for high-risk proliferative diabetic retinopathy (PDR): the PROTEUS study.
in Eye (London, England)
Yusuf IH
(2021)
Deep phenotyping of the Cdhr1-/- mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration.
in Experimental eye research
Yusuf IH
(2018)
Joint recommendations for retinal screening in long-term users of hydroxychloroquine and chloroquine in the United Kingdom, 2018.
in The British journal of dermatology
Yusuf IH
(2023)
Hydroxychloroquine-induced Retinal Toxicity.
in Frontiers in pharmacology
Yusuf IH
(2023)
Infographic: Comparing the effectiveness of bevacizumab to ranibizumab in patients with exudative age-related macular degeneration: the BRAMD study.
in Eye (London, England)
Yusuf IH
(2021)
Comment on: Immediately sequential bilateral cataract surgery (ISBCS): an Academic Teaching Center's experience.
in Journal of cataract and refractive surgery
Yusuf IH
(2022)
Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions.
in Progress in retinal and eye research
Yusuf IH
(2020)
Pentosan Polysulfate Maculopathy-Prescribers Should Be Aware.
in JAMA ophthalmology
Yusuf IH
(2018)
Microperimetry and optical coherence tomography imaging in the fellow eye of patients with unilateral focal ischaemic glaucoma.
in Eye (London, England)
Yusuf IH
(2022)
Thinking Outside the Circle-The Potential Value of Ultra-Widefield Imaging.
in JAMA ophthalmology
Yusuf IH
(2022)
Comment on: Laser corneal enhancement after trifocal intraocular lens implantation in eyes that had previously undergone photoablative corneal refractive surgery.
in Journal of cataract and refractive surgery
Yusuf IH
(2023)
Infographic: Intravitreal aflibercept injection in patients with myopic choroidal neovascularization: the MYRROR study.
in Eye (London, England)
Guideline Title | Hydroxychloroquine and Chloroquine Retinopathy: Recommendations on Monitoring |
Description | Clinical research papers cited in national hydroxychloroquine retinal monitoring guidelines |
Geographic Reach | National |
Policy Influence Type | Citation in clinical guidelines |
Impact | I wrote this major national guideline on monitoring procedures for hydroxychloroquine retinopathy in the UK on behalf of the RCOphth guideline development committee. Roles: conception, systematic review of literature, selection of papers, weighting of recommendations, writing of manuscript |
URL | https://www.rcophth.ac.uk/wp-content/uploads/2020/12/Hydroxychloroquine-and-Chloroquine-Retinopathy-... |
Description | Royal College of Ophthalmologists joint national recommendations on screening for hydroxychloroquine retinopathy |
Geographic Reach | National |
Policy Influence Type | Contribution to a national consultation/review |
Impact | There are now recommendations for every long-term hydroxychloroquine user to have retinal screening to detect pre-symptommatic disease and protect sight across the UK. The guideline also suggests monitoring procedures, intervals, equipment, personnel, patient pathways and management of affected individuals. Cross specialty communication is also emphasised in reducing the risk of retinopathy. |
URL | https://www.rcophth.ac.uk/news-views/hydroxychloroquine-and-chloroquine-retinopathy/ |
Description | ASGCT Meritorious Abstract Travel Award 2021 |
Amount | $600 (USD) |
Organisation | American Society of Gene & Cell Therapy (ASGCT) |
Sector | Charity/Non Profit |
Country | United States |
Start | 04/2022 |
End | 05/2022 |
Description | Association for Research and Vision in Ophthalmology (ARVO) Travel Grant 2019 |
Amount | $1,100 (USD) |
Organisation | Association for Research in Vision and Ophthalmology |
Sector | Charity/Non Profit |
Country | United States |
Start | 02/2019 |
End | 05/2019 |
Description | Knoop Junior Research Fellowship, St. Cross College |
Amount | £40,000 (GBP) |
Organisation | University of Oxford |
Sector | Academic/University |
Country | United Kingdom |
Start | 03/2022 |
End | 03/2024 |
Description | Merton College Graduate Scholar 2019-20 |
Amount | £500 (GBP) |
Organisation | University of Oxford |
Sector | Academic/University |
Country | United Kingdom |
Start | 09/2019 |
End | 10/2020 |
Description | Merton Travel Grant |
Amount | £1,500 (GBP) |
Organisation | University of Oxford |
Sector | Academic/University |
Country | United Kingdom |
Start | 03/2018 |
End | 05/2018 |
Description | International multicentre collaboration to define the natural history of CDHR1-associated retinal degeneration |
Organisation | Columbia University |
Country | United States |
Sector | Academic/University |
PI Contribution | - Conception of study - Ethical approval - Identification of collaborative partners - Organisation of data collection - Data analysis and writing of manuscript |
Collaborator Contribution | - Identification of cases - Data collection |
Impact | - Natural history study of CDHR1-associated retinal degeneration (this is likely to lead to two separate original research papers) - Natural history data presented at EURETINA, 2020 - Major study abstract submitted for presentation ARVO international conference, 2024 |
Start Year | 2018 |
Description | International multicentre collaboration to define the natural history of CDHR1-associated retinal degeneration |
Organisation | Moorfields Eye Hospital |
Country | United Kingdom |
Sector | Hospitals |
PI Contribution | - Conception of study - Ethical approval - Identification of collaborative partners - Organisation of data collection - Data analysis and writing of manuscript |
Collaborator Contribution | - Identification of cases - Data collection |
Impact | - Natural history study of CDHR1-associated retinal degeneration (this is likely to lead to two separate original research papers) - Natural history data presented at EURETINA, 2020 - Major study abstract submitted for presentation ARVO international conference, 2024 |
Start Year | 2018 |
Description | International multicentre collaboration to define the natural history of CDHR1-associated retinal degeneration |
Organisation | University of Bonn |
Country | Germany |
Sector | Academic/University |
PI Contribution | - Conception of study - Ethical approval - Identification of collaborative partners - Organisation of data collection - Data analysis and writing of manuscript |
Collaborator Contribution | - Identification of cases - Data collection |
Impact | - Natural history study of CDHR1-associated retinal degeneration (this is likely to lead to two separate original research papers) - Natural history data presented at EURETINA, 2020 - Major study abstract submitted for presentation ARVO international conference, 2024 |
Start Year | 2018 |
Description | International multicentre collaboration to define the natural history of CDHR1-associated retinal degeneration |
Organisation | University of Ghent |
Country | Belgium |
Sector | Academic/University |
PI Contribution | - Conception of study - Ethical approval - Identification of collaborative partners - Organisation of data collection - Data analysis and writing of manuscript |
Collaborator Contribution | - Identification of cases - Data collection |
Impact | - Natural history study of CDHR1-associated retinal degeneration (this is likely to lead to two separate original research papers) - Natural history data presented at EURETINA, 2020 - Major study abstract submitted for presentation ARVO international conference, 2024 |
Start Year | 2018 |
Title | GENE THERAPY FOR RETINAL DISEASE |
Description | The invention provides methods for treating, preventing or reversing retinal degeneration. The methods administering to the subject a vector that expresses a Cadherin-related family member 1 (CDHR1) polypeptide. The invention also provides gene therapy vectors that expresses a CDHR1 polypeptide, host cells that express the gene therapy vectors, and pharmaceutical compositions comprising the gene therapy vector. |
IP Reference | WO2022208084 |
Protection | Patent / Patent application |
Year Protection Granted | 2022 |
Licensed | Yes |
Impact | The creation of Beacon Therapeutics, a Spinout company merged with an acquisition that attracted an initial £96 million investment, March 2023. |
Company Name | Beacon Therapeutics Limited |
Description | Beacon Therapeutics is an ophthalmic gene therapy company focused on developing treatments for prevalent and rare retinal diseases that result in blindness. |
Year Established | 2022 |
Impact | Beacon Therapeutics Launch: New leading gene therapy company created combining late-stage X-linked retinitis pigmentosa (XLRP) program from AGTC, a preclinical program spun out from the University of Oxford and a second preclinical program to deliver a broad ophthalmic development pipeline Led by a highly experienced leadership team including David Fellows, Dr. Nadia Waheed, and Dr. Abraham Scaria, each with decades of ophthalmic gene therapy experience £96m ($120 million) in funding from lead investor Syncona and additional investors including Oxford Science Enterprises (OSE) to progress pipeline to key value inflection points |
Website | https://www.beacontx.com/ |
Description | BBC Radio Interview on Retinal Gene Therapy |
Form Of Engagement Activity | A broadcast e.g. TV/radio/film/podcast (other than news/press) |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | - I gave a 6 minute radio interview which was undertaken by the "Naked Scientist" publishing group. - This was released as a podcast and also appeared on BBC radio both locally, nationally and selected international broadcasting. |
Year(s) Of Engagement Activity | 2019 |
URL | https://www.thenakedscientists.com/articles/interviews/gene-therapy-blindness-0 |
Description | Cheney School Science Fair 2018 |
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 | - I participated with other lab members to present a stall at a school fair on visual function in health and disease to secondary school pupils in Oxford. |
Year(s) Of Engagement Activity | 2018 |
Description | MRC Max Perutz Science Writing Submission |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | I wrote a lay summary of the project funded by the MRC - to develop a gene replacement treatment for CDHR1-associated retinal degeneration. This was read by healthcare professionals, students, and patients with CDHR1 mutations and retinal degeneration. The feedback was very positive in that it helped these individuals to understand the aim and scope of the research project and how it might help the end user. |
Year(s) Of Engagement Activity | 2018 |
Description | Main speaker at Retina UK patient group meeting, Bristol |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | I presented the main talk on inherited retinal degenerations and key issues for patients. This was delivered at a national Retina UK meeting that included an in person audience of around 40-50 patients and their carers. The talk and discussion/questions and responses were recorded and made available through the Retina UK website. |
Year(s) Of Engagement Activity | 2022 |