Our advisory boards include expert scientists and families affected by DMD.
Together, they ensure that the money we raise has the greatest possible impact for the DMD community.
Scientific advisory board
Our Scientific Advisory Board (SAB) is made up of some of the world's experts in Duchenne muscular dystrophy (DMD). They bring with them a wide range of essential skills and knowledge bases, including scientific, clinical and drug discovery & development. When scientists come to us with their ideas for new research projects, it is the SAB who apply their experience and expertise to test these ideas, helping to refine them if necessary, in order that Duchenne UK can make informed decisions on funding. We want to fund great science - projects that can improve our knowledge base, treatments that can reach the clinic and improve the lives of people with DMD - our SAB is a crucial part of this work.
Dr John Bourke is a Consultant Cardiologist at the Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, UK and Honorary Clinical Lecturer at the Institute of Genetic Medicine at Newcastle University.
John has a highly successful, dedicated Cardiology-Muscle Clinic at Freeman Hospital providing surveillance and treatment for patients with cardiac involvement in their inherited neuromuscular disorder. John is research active in clinically-based subjects in cardiac electrophysiology / arrhythmia management and cardiac aspects of neuromuscular disorders.
John is the lead investigator in the DMD heart protection study – a randomised trial of ACE-inhibitor and beta-blocker therapy in preventing cardiomyopathy.
Dr. Annemieke Aartsma-Rus is associate professor at the Leiden University Medical Centre and Newcastle University. She is currently Chair of the executive committee of the TREAT-NMD alliance and is a member of the Project Ethics Council and TACT Committee. She played an important role in the development of the antisense mediated exon skipping therapy for DMD during her PhD research (2000-2004) at the Leiden University Medical Center, Department of Human Genetics (the Netherlands). In 2007, she became leader of the “DMD exon skip group” – first, as assistant professor and currently as associate professor at the Department of Human Genetics. In 2014, she was chosen as the second most influential scientist in DMD in the past 10 years (2005-2014) by Expertscape. In 2013, she was elected a member of the junior section of the Dutch Royal Academy of Sciences, which consists of what are considered the top 50 scientists in the Netherlands under 45.
Dr. Hoffman is a human geneticist and translational researcher focused on neuromuscular disease, where he helps lead international collaborative efforts on drug development and clinical trials in muscular dystrophy. He received his PhD in Drosophila molecular genetics from Johns Hopkins University, then carried out a post-doctoral fellowship at Boston Children’s Hospital and Harvard Medical School working on the identification of the DMD gene and protein. From 1990-1998 he led a lab at the University of Pittsburgh School of Medicine developing molecular diagnostics methods, gene identification, and gene therapy.
From 1998-2015, he was Director of the Center for Genetic Medicine Research at Children’s National Medical Center, and Professor and Chair of the Department of Integrative Systems Biology at George Washington University, both in Washington DC. There, he formed a large, interdisciplinary research group on neuromuscular diseases.
He recently transitioned to a mixed position, where he is Associate Dean of Research at SUNY Binghamton School of Pharmacy, co-founder and CEO of ReveraGen Biopharma (clinical-stage dissociative steroid drug development), and co-founder and Vice President of AGADA Biosciences (mouse efficacy trials). His research accomplishments include identification of the dystrophin protein, and defining its deficiency in DMD patient muscle, mdx mouse, dog and cat models. His lab identified initial voltage sensitive ion channel mutations in human diseases, and genetic causes of recurrent pregnancy loss. He is an inventor on nine patents, and has authored over 500 publications.
Professor Davies has won numerous awards for her work and is at the forefront of a global effort to treat and cure DMD. Prof. Davies established the first physical map of the DMD gene and discovered the closely related gene called utrophin, which now forms a target for treating the disease.
Davies serves as the Dr Lee’s Professor of Anatomy, Head of the Department of Human Anatomy and Genetics, and Honorary Director of MRC Functional Genetics Unit, at the University of Oxford. She has been a member of the Board of Governors at the Wellcome Trust since 2008.
She is a founding fellow of the UK Academy of Medical Sciences and was elected a Fellow of the Royal Society in 2003. She was made Dame Commander of the British Empire for services to science in 2008.
Dirk Fischer is leading the neuromuscular research group at the University Childrens Hospital in Basel, Switzerland.
One of his main research interests is to identify objective clinical endpoints or surrogate imaging markers that are useful in evaluating disease progression in muscular dystrophies and related neuromuscular disorders.
The second and most important area of scientific interest includes clinical studies aimed to slow the muscle degeneration in patients with muscular dystrophies. A positive effect on muscle metabolism of a treatment with metformin and L-citrulline was found in a monocenter randomised placebo controlled trial in 47 ambulant patients with DMD.
Currently, his group is leading an international multi-centre randomised placebo controlled trial in 47 ambulant patients with DMD assessing the efficacy and safety of tamoxifen.
Dada Pisconti was born in Italy where she received her Laurea degree (an integrated Bachelor + Masters) from the University of Perugia and her PhD from the University of Bari School of Medicine. In 2005, Dada moved for the first time to the US, to work in Brad Olwin’s lab at the University of Colorado, Boulder, where she improved her skills and knowledge in cell signaling and muscle stem cells. She then moved back to Europe to start her own lab at the University of Liverpool in 2012, where she remained until her second move to the US, in summer 2018, joining the Department of Biochemistry and Cell Biology at Stony Brook University, NY. As an independent scientist, Dada continued to investigate the cellular and molecular mechanisms regulating muscle stem cell biology and DMD pathogenesis.
Dada’s work in the muscular dystrophy field addresses both basic research questions and translational needs. In the past 5 years, Dada’s research group has led two biomarker clinical trials in the UK, which led to the identification of three novel candidate biomarkers for DMD, currently under validation. Her group has also identified a new therapeutic target for DMD treatment and validated the efficacy of its pharmacologic targeting in a mouse model of DMD.
Originally from Italy, Dr Ricotti worked at the Dubowitz Neuromuscular Centre at University College London as a clinical researcher and investigator for numerous clinical trials for neuromuscular disorders, with a focus in DMD. As part of her research projects, she reported on the use, benefits and adverse effects of glucocorticoids in large cohorts of DMD subjects (NorthStar clinical network registry).
With the goal to develop new pharmaco-gene therapies, Dr Ricotti joined industry as Medical Director for the neuromuscular franchise of BioMarin Pharmaceutical Inc. Subsequently, she worked at Solid Biosciences as Director of Translational Research and Development, with a focus on their AAV-delivered micro-dystrophin gene therapy programme for DMD and on the development of novel biomarkers.
As Honorary Lecturer at the Great Ormond Street Institute of Child Health Dr Ricotti remains involved in academic research and notably in developing new technologies leveraging artificial intelligence and machine learning for monitoring neuromuscular diseases in children.
In 2019 Dr Ricotti co-founded DiNAQOR, a gene therapy biotech focused on advancing novel solutions for children and adults suffering from monogenic cardiomyopathies. She currently holds a position as Executive Vice President and Chief Medical Officer.
Dr. Olivier M. Dorchies is a biochemist and physiologist by education and a pharmacologist by training. For 25 years, he has been working on muscle physiology and pathology, using in vitro and in vivo techniques.
Using murine models of DMD and X-linked myotubular myopathy, he developed four major lines of research: understanding pathogenic mechanisms, evaluating compounds of therapeutic value (essentially nutraceuticals and repurposed drugs), developing models that are better phenocopies of the human diseases, and establishing standard operating procedures for better preclinical research.
In the last 15 years, his work with green tea polyphenols, rimeporide and tamoxifen in mouse models of DMD promoted the clinical trials SUNIMUD, RIM4DMD and TAMDMD. His recent work on the protective effects of tamoxifen and the roles of estrogenic signalling in X-linked myotubular myopathy inspired the clinical trial TAM4MTM-UK. His current work towards improving muscle function for DMD patients includes the evaluation of tamoxifen combined to L-citrulline and metformin, a panel of anti-fibrotic compounds, and branched-chain aminoacids.
Dr. Manuela Corti is currently an Assistant Professor and Director of Translational Research in the Child Health Research Institute and Powell Gene Therapy Center at the University of Florida. Dr. Corti is a clinical scientist engaged in translational research focusing on understanding the contribution of neurological impairment in neuromuscular disorders by combining expertise in clinical assessment with novel therapies that rely on correcting the fundamental genetic defect. Her specific research is dedicated at developing AAV gene therapy programs for neuromuscular diseases and immunomodulation strategies to a) prevent immune responses against the AAV capsid and the transgene, and b) allow for AAV administration in pre-existing immunity. Her research interests also include outcome measures and clinical trial readiness for neuromuscular diseases such as Friedreich’s Ataxia, Pompe disease and DMD.
Patient advisory board
Patient and parent involvement is at the heart of Duchenne UK. We believe that patients should be at the heart of drug development. Our Patient Advisory Board (PAB) is made up of parents of children and young adults of different ages, who advise and give feedback on the projects we are considering for funding.
Maggie has 5 children – Efren, who has DMD and his siblings Caspar, Mireille, Nissa and Aleka. They live in Trafford in Greater Manchester. Efren (often known as Renzo) was diagnosed with DMD in December 2014.
At the time Maggie was managing a pre-school and completing a degree in childhood youth studies. She now works part time as a childcare practitioner at a childcare centre, as well as home educating her four youngest children.
In January 2015 Maggie and Aleka set up Raise for Renzo as a way to share Efren’s experience of living with DMD with family and friends, as well as the wider community through social media. They also fundraise for DMD charities and share information to raise awareness about the condition.
Maggie is interested in trials and treatments being available as widely and quickly as possible, and would like to see more trials open to non ambulant boys and men.
Pauline worked for several years as a laboratory technician before starting a family. Pauline’s youngest son Josh was diagnosed with DMD when he was 5. Josh, now 18, has an older brother Ryan, and older twin sisters Ellie and Lauren.
Since Josh’s diagnosis, Pauline has thrown herself into numerous fundraising activities, and worked in Advocacy and Fundraising. Pauline is currently studying a BA in English and Creative Writing, and is part owner and Director of an access information website, due to launch next year.
Pauline has a particular interest in trials for non-ambulant participants, and for adults living with DMD.
Katrina has a son, Alexis, with DMD and three daughters, Eva, Beatrice and Elizabeth. Alexis was diagnosed with DMD at six months old. Following this Katrina left her career in administration to become a full-time mum and home educator.
In 2015 Katrina started Duchenne Parents Zone, an internet support group for parents of children with DMD in the UK and Ireland. Katrina also created and manages Duchenne Awareness UK, a Facebook page aimed at raising awareness of DMD. Katrina is passionate about providing support for families affected by DMD and has an interest in DMD genetics.
Vici has been involved in the DMD community for 12 years. She has a son Zak, who has DMD, and two girls, Eva and Sian.
Zak was diagnosed at 18 months old, and since then, Vici has campaigned and raised money for DMD research. She left her job in 2005 as a Children’s Services Manager for a childcare company and began work as PPUK’s (now Action Duchenne) first fundraiser. She worked with them to lobby parliaments in England, Scotland, Wales and Northern Ireland.
For the last 6 years, Vici has worked as a Direct Payment Support Officer with a disability charity and city council, supporting people to use their social care budget, as well as giving information and advice on independent living. Vici is also a founder and trustee of Duchenne Now.
Vici is committed to seeing treatments for all, in the shortest time frame possible. She is particularly keen to see non-ambulant trials set up.
Divyesh joined IWG LLP, a firm of commercial lawyers based in Holborn in London in 1996 when he qualified as a solicitor, and has been a partner since the year 2000. He specialises in commercial litigation and dispute resolution. He is also father to Raul, who has DMD. In 2007, soon after Raul was diagnosed, he became a trustee for Action Duchenne, in order to support, in every way possible, those carrying out essential work to find treatments for DMD, and those working to improve the lives of the children living with the condition. While he has not been a trustee of Action Duchenne for a number of years, he (and IWG) have continued to support and work with DMD charities and the DMD community.
Justine and Alex’s third child, Jamie, was diagnosed with DMD, just after his first birthday. At this time, Justine gave up her career as a stockbroker, to become a full-time mum. Alex has been in finance for nearly 20 years, and in 2015, with the help of friends and family, Alex and Justine organised a triathlon, Tri4Duchenne, which raised over £350,000 for Duchenne UK.
Lisa Kuhwald is one of Duchenne UK’s Advocacy Support Officer – this is a voluntary role.
Lisa is mum to 4 boys, Oscar, Casper, Felix and Herbie. They live in Altrincham near Manchester.
She studied Chemistry at the University of Hull and worked as a teacher and in the pharmaceutical industry. Lisa now runs the family property business in Manchester, founded by her husband Karl.
They set up Team Felix in 2013, after their son Felix, then 2, was diagnosed with DMD. The goal is to raise as much money as possible, and as quickly as possible, to fund research into treatments to end Duchenne.
Fleur is a health economist and has worked in the pharmaceutical industry for over 20 years, across Clinical Research and Health Outcomes. Her current role is at GSK is Therapeutic Area Head in Global Value Evidence and Outcomes. Her son, Dom, has DMD. Fleur also chairs the Project HERCULES Steering Group.
Nick is the parent of a son, Saul, who is living with DMD. He was the founder member and former CEO for the charity, Action Duchenne. Nick has an honours degree in Chemistry and a PGCE. He established the first patient clinical trial database, the DMD Registry, and is currently a member of its advisory board. He is also a member of the Treat NMD TACT committee for evaluating new treatments and medicines for DMD. From 2005 until 2012, he was a member of the MDEX Consortium SAB, which supported the first clinical trial for exon skipping using morpholinos with boys living with DMD in the UK. When CEO at Action Duchenne, Nick established and contributed to the first of many DMD International Research Conferences in the UK and he also set up the APPG for Muscular Dystrophy in the Houses of Parliament. He has recently campaigned with families to win approval for the PTC genetic therapy Translarna with NICE and NHS England.
Becky Burnett is mother to Tom, who has DMD, and Amy. She graduated from Oxford University and worked in London and Hampshire as a lawyer, specialising in medical negligence. Shortly after Tom was born in 2007, she and her husband Gary, spent 3 years self-building their dream home – Tom was diagnosed with DMD a few weeks after they had moved in.
Tom has taken part in 3 clinical trials at Great Ormond Street Hospital, two for an experimental drug for DMD and one for a distraction device used when giving blood. Her experience during this time has left her in no doubt that the patient voice is not being listened to by the drug companies and she believes passionately that it should be the primary consideration at every step of drug research.
Janet is Senior Lecturer in Special Education at the University of East London, teaching on both undergraduate and postgraduate programmes. In 2001, she co-founded the charity, Action Duchenne, with her partner, Nick Catlin, after their son, Saul, was diagnosed with DMD. From 2008 to 2011, Janet ran the lottery-funded ‘Include Duchenne’ project, which worked with over 60 children with DMD and their schools and families across the UK, to improve reading and learning skills. The project won the 2011 National Lottery Award for Education.
From 2011 to 2016, Janet co-managed the lottery-funded ‘Takin’ Charge Transition to Adulthood’ project, which worked with 80 young people with DMD, aged between 14 and 19 years, and their families – supporting teenagers with DMD to be aspirational about their future. Through the community interest company, Decipha, Janet has worked with children, with a range of learning and behaviour difficulties, and led a Department for Education-funded Leadership programme for young adults with life-limiting impairments.
Janet is currently involved in research, which is exploring the experience of young people with life-limiting impairments and their views on the new SEND reforms in a time of austerity. She has edited the book ‘A Guide to Duchenne Muscular Dystrophy : Information and Advice for Teachers and Parents‘, which is free for families affected by DMD in the UK.
Sejal Thakrar’s son Shiv was diagnosed in April 2014. Following diagnosis, Sejal gave up her career as a Customer Intelligence Data Analyst within the Telecommunications sector.
In January 2015, along with her husband Manoj, they set up ‘Smile with Shiv’ to work closely with the DMD community, in raising awareness and funds for DMD charities, as well as advocacy work.
Sejal has used her experience as a Data Analyst to assist in the analysis of surveys, carried out as part of our community engagement work, to better understand what patients and caregivers want from care, research and clinical trials.
Rachel and Gareth’s son, Harry, was just two and a half years old when he was diagnosed with DMD. At that time, they were expecting their second child. Luckily they had a healthy girl – Grace. Rachel decided not to return to her job in the Housing industry and to be a full-time mother. Gareth continues to run his own nightwear business. Gareth has taken part in the Duchenne Dash twice, and together, they continue to fundraise for Duchenne UK, in the hope that one day there will be a cure.
Jaspal is the mum of Taran (11) and Kirath (9 – pictured) – Kirath was diagnosed with DMD just before his 4th birthday. Jaspal is an Equality and Diversity Practitioner with over 20 years experience in the field; after having graduated in Law, from the University of Manchester, she worked at the Commission for Racial Equality, advocating equality of opportunity for minority ethnic groups. She currently leads on Equalities at Coventry City Council.
Since Kirath’s diagnosis, Jaspal has championed the need for early access to medicines and was involved in lobbying for the approval of Translarna, for which Kirath was eligible. She is also a passionate advocate for improved psychological support for patients and families.
In July 2017, Nick and Kirsty received the heartbreaking news that both their sons, Owen (then 3 years old) and George (9 months), have DMD. Nick is an orthopaedic surgeon and Kirsty is a research nurse, both working in Glasgow. They are determined to raise awareness and funds for research into a cure for this devastating disease, and have set up Project GO with these aims. They are particularly focused on supporting the development of the DMD Hub, to expand clinical trial capacity for boys throughout the UK.
Andrew is the father of William, who was diagnosed with DMD in 2016 at the early age of 1, after a random blood test. Andrew graduated from the University of Derby with a BA (Honours) Degree in History, before becoming a director of his family-run business. Since William’s diagnosis, Andrew has thrown himself into fundraising, setting up William’s Fund with Duchenne UK, to contribute in the quest to find meaningful treatments, and eventually a cure for this condition.
Anna is mum to Jack (aged 5). She studied Business Administration at Coventry University and also obtained her purchasing qualification, MCIPS. Anna has worked in the Healthcare industry for 9 years and is currently a Procurement Manager for pharmaceuticals. She set up Jack’s Mission in March 2016 after their son Jack, then 2, was diagnosed with DMD, with the key objective of raising as much awareness and funds as possible to help to find effective treatments.
Laura has two sons – Louis, age 6, and Jenson, age 5. Louis was diagnosed with DMD in December 2016. Laura and her husband Phil set up Lifting Louis (a family fund with Duchenne UK) to help support our work to end Duchenne. Laura and her family live in Lancashire and she has previously worked in the travel industry.
Ana’s son Gabriel was diagnosed with DMD just before his 4th birthday.
With the support of family and friends, she set up ‘Hope for Gabriel’; a small charity run by kind volunteers, with the aim of raising funds to aid DMD research and to raise awareness of this disease.
Her main interest at the moment is to raise funds towards the expansion of clinical trial capacity in the UK, as she believes this project will benefit everyone living with DMD, as well as giving more children/young adults with this disease the opportunity to take part in clinical trials. She also has a great interest in the link between DMD and learning difficulties and supporting families dealing with the practical side of having a child with special educational needs.
Kerry has two boys, George and Jack. In November 2016 George was diagnosed with DMD at the age of 8.
Kerry and her husband John have thrown themselves into raising awareness and fundraising for DMD charities, and set up ‘Cure4George’ (a family fund with Duchenne UK) to help support their work to end Duchenne.
Kerry and her family live in Essex and she has over 30 years senior leadership and project management experience in the banking industry. John retired from his career in Banking to become a full time Dad, and has supported groups for Duchenne Dads. John has completed the Prudential Ride London 3 times, and the family run an annual ‘Cure4George’ Golf day.
Alex and his wife Lisa have 2 boys, Ben and Zak, and live in Berkshire. Ben, who has DMD, was diagnosed in 2017 soon after his 4th Birthday when Zak was only 4 months old.
Alex has spent more than 20 years creating and managing high performing teams in the service industry in a number of countries and across a range of sectors including hospitality, retail and guest services.
Since diagnosis, Alex has invested time in supporting DMD charities through fundraising and awareness campaigns through Ben vs Duchenne on Instagram, Facebook and Twitter, where he shares Ben’s life experiences both medical and social.
Alex and his family have set up a family fund, Ben vs Duchenne, to support Duchenne UK’s investment into research.
Beccy and Alex are parents to Archie who was diagnosed with DMD in the Summer of 2017, when he was 3 years old. Six months after that dark day they set up a family fund ‘Archie’s March’ and threw themselves into fundraising with the hope of changing the future for all those affected by DMD.
With the support of family and friends, Beccy and Alex hope to continue fundraising so that Duchenne UK can achieve their goal of ending Duchenne.
Sara’s youngest son, Oscar, was diagnosed with DMD in October 2017 when he was 7 years old. Shortly after diagnosis, Sara and her husband Oliver committed to riding the Duchenne Dash and to supporting Duchenne UK with its aim of finding life changing treatments for this cruel disease .
Sara lives in Bristol with her husband Olly, their three sons, Ben, Harry and Oscar, and George the dog. Although Sara now works in HR, she is a qualified lawyer and practised in the field of professional negligence and insurance law for many years.
Jo Eames is mother to William & Phoebe and wife to Matt. William was diagnosed with DMD in January 2016 just over the age of 3. The family set up their unincorporated charity Defending William Against Duchenne in 2018 to raise awareness of DMD and William’s journey. In 2019 they raised over £50,000 and Jo project managed the huge adaptations to totally futureproof their house to make it the most wonderful home with no obstacles for William. Jo now offers advice on adaptations to other parents in similar situations.
Jo has been involved with DMD charities since William’s diagnosis, serving as a trustee of Action Duchenne for 18 months earlier in their journey. With the support of family and friends they have raised over £30,000 specifically for research across several charities. The families focus is now research into gene therapy to find a cure for DMD.
Jo works as a consultant within education part time so that she can be a mother to both children whilst also overseeing William’s care and wellbeing.
Tony Levene set up a charity Duchenne Now in 2012. His amazing son Joey who turned 16 in June 2021 has DMD. Tony is a figurehead in the DMD community, always supporting families and boosting morale. Duchenne Now supports Duchenne UK and Tony’s company IKONIC provides complimentary IT support to Duchenne UK.
Development Board
Our Development Board is composed of committed donors, called Founding Patrons. Founding Patrons support us in our fundraising goals through donations, corporate support, connections and advice.
The role of the Development Board is to help Duchenne UK secure regular income, which gives us the freedom to commit funds on a repeat basis to the most promising projects. With this security, leading scientists and doctors can spend less time chasing funding, and more time in research and drug development.
Matt is Managing Partner of Talbot Hughes McKillop, a restructuring advisory firm. He previously worked at Andersen, in the consulting practice. Matt earned a BA from Corpus Christi, Oxford in Psychology and Physiology and is a Fellow of the Chartered Institute of Management Accountants.
Matt is a keen cyclist and was introduced to Duchenne UK by Ben Monro-Davies in 2016. He has completed two Duchenne Dashes and the Dash Max 2017 from London to Monaco. Matt is also non-executive director of SH:24, a Community Interest Company, focused on bringing NHS services online.
Peter is the Founder & CEO of UK clothing brand Jack Wills. Founded in 1999 and grown organically from a single £40k investment, Jack Wills is now a global brand trading from c.100 company owned stores in Europe, North America and Asia, with franchises across the Middle East. As an expert in brand communications, Peter is considered to be at the leading edge of multi-channel retailing, social media and viral marketing. As well as supporting Duchenne UK, Peter is also a major supporter of Malaria No More UK.
David graduated from Magdalene College, Cambridge University in 1991 and joined the investment bank UBS (SBC). He is UBS Investment Bank’s Global Head of Financial Institutions and the UK Country Head for UBS Group as well as being a UBS Limited board member, a member of the British Bankers Association board and of the Association for Financial Markets in Europe board. David is a trustee of the Clement James Centre in North Kensington and a member of Business in the Community’s Education Leadership Team.
Anthony is co-head of Investment Banking Services in EMEA and co-head of UK Investment Banking. He is a member of the Partnership Committee. He joined Goldman Sachs as a managing director in 2007 and was named partner in 2012.
Prior to joining the firm, Anthony spent seven years at Citigroup. Earlier in his career, he qualified as a corporate solicitor at Freshfields in London. Anthony earned a BA in Modern History at Worcester College, Oxford University, and a CPE and LPC degree from the London College of Law.
Anthony is a member of The Sutton Trust strategic advisory and development board.
Ben Monro-Davies is a TV journalist currently working for GB News. He previously worked at the BBC, Sky News, and Channel 4 News, where he first met the founder of Duchenne UK, Emily Reuben. Through the charity he has become a reluctant but regular cyclist, completing four Duchenne Dashes to Paris and one Tour de Yorkshire.
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