About us - Welcome to The Norrie Disease Foundation

Team Profiles

Wendy Horrobin

Chair and Coordinator

Wendy is Chair, Coordinator and Co-founder of the Norrie Disease Foundation. She is married and has two children, Chloe 12, and Josh 10, who has Norrie disease. Before becoming a mum Wendy taught English as a second language abroad and then settled in the UK as a project manager working across various educational and community projects.

Wendy became involved with setting up the Norrie Disease Foundation because she wanted to help get new research into Norrie disease starting with finding a cure for the progressive hearing loss. Wendy is a board member for the Norrie Disease Association in the USA and attended the Norrie Disease Association conferences in Boston in 2015 and 2018.

When Wendy is not working on the Norrie Disease Foundation she spends her time with her family, brushing up on her braille skills or doing DIY with Chloe.

Wendy’s role includes ensuring that the board fulfills its legal requirements; helping with planning and running of trustee meetings; acting as a spokesperson for the charity; driving the Norrie Disease Foundation forwards to achieve its aims and objectives of engaging in fresh new research whilst supporting and strengthening the Norrie community.

Wendy’s vision for the Norrie Disease Foundation is:

To support global collaborations in working towards finding a treatment for the Norrie disease hearing loss and engaging in new Norrie research
To help set up a European focused Norrie disease patient registry with intention to collaborate globally
To help strengthen the Norrie disease community
To promote and share medical and research contacts and knowledge for families and health professionals.

wendyhorrobin@norriedisease.org.uk

Kelly Leggett

Secretary

Kelly is Co-founder and Secretary to the Norrie Disease Foundation. Kelly is married to Tom and has two children, Harrison 7 and Alfie 4 who has Norrie disease. Kelly worked in banking for ten years before taking a career break to focus on her family.

When Alfie was diagnosed, Kelly and Tom found it hard to access accurate information about Norrie disease. This left them feeling uncertain about Alfie’s future and where to seek the best professional advice. At the moment, there is very little ongoing research, information and support for families and this is why Kelly is so passionate about raising funds for vital, fresh research into Norrie disease.

Kelly began working on the Norrie Disease Foundation in 2016 after making contact with Wendy through Contact a Family. Kelly and Wendy shared the same vision for the Norrie community and the need for new research.
Kelly has just started to learn Braille and has developed a newfound interest in arts and crafts with her older son Harrison making tactile toys and books for Alfie.

Kelly’s role as secretary includes taking minutes of meetings; setting the agenda for the meetings; maintaining records and communicating with members.

Kelly’s vision for the Norrie Disease Foundation is:

To help families access the necessary medical and educational support
To raise awareness and develop understanding of Norrie disease
To organise family fun days to enable Norrie families to meet and develop friendships and develop a stronger support network

kellyleggett@norriedisease.org.uk

Theresa Peacock

Trustee

Theresa is Co-founder of the Norrie Disease Foundation and a trustee. Theresa is married to Neil and has two children, Ethan 12, with Norrie disease, and Jasper aged 9.

After studying Theology and completing a PGCE, Theresa became an RE teacher in a secondary school in Essex. Following a teaching career and some time at home with her children, Theresa became a police officer, joining the Metropolitan Police where she worked for two years. Last year, realising her passion lay with working with young people, Theresa found her ideal place in education and now works as a Specialist Teacher for children and young people with visual impairment. Later in the year she will be embarking on a two-year distance learning QTVI course from Birmingham University.

Away from work and the Norrie Disease Foundation, Theresa enjoys cycling, having trips away with her family and singing in her family’s band!

Theresa became involved with the setting up of the Norrie Disease Foundation through meeting Wendy, Kelly and Tom. She was more than happy to accept the role of trustee when asked as she could see how much benefit could be gained from the setting up of the foundation.
Theresa’s vision for the next year is:

To help connect the Norrie community to the support they need from other families and medical professionals
To develop an informative, accessible and positive website
To promote a wider awareness of Norrie disease with the general public

theresapeacock@norriedisease.org.uk

Kelly Robinson

Treasurer

Kelly is the Norrie Disease Foundation’s Treasurer and is married to Mike and ‘owned’ by two dogs, a Hungarian vizsla called Ralphie and Lizzie, a rescue from Cyprus.

After studying Biology at university, Kelly travelled solo around the world before starting her career at a national palliative care charity, and then moved on to an obesity NGO where she ran a European e-learning educational project. In 2007 Kelly began working at the Royal College of Paediatrics and Child Health, running the specialty groups for community child health and neuro-disability. In 2011 she went part time, working solely for the British Academy of Childhood Disability.

When she’s not working, Kelly splits her spare time between training her dogs, taking part in a variety of activities including scent work and agility, and training herself – she has recently taken part in her first (hopefully of many!) triathlon.

With her sporty fundraising hat on Kelly is keen to keep in touch and support with the sporting sponsored events going on in our Norrie community and very willing to handhold through the experience if needed. Kelly says ‘I recently completed a triathlon myself as a fundraiser and I really valued the charity’s support – they kept in touch throughout providing support and great fundraising tips – I would like to do the same for NDF fundraisers’. Kelly will be using her professional links to raise awareness of the Norrie Disease Foundation with paediatricians and therapists across the UK.

Kelly’s role as Treasurer involves taking the lead at board level on making sure the charity keeps proper accounts; reviewing the charity’s financial performance; overseeing the Norrie Disease Foundation’s finance policies; financial controls and reporting on financial matters such as budgeting, monthly updates and account information.

Kelly’s vision for the next year is to:

Raise awareness of the NDF mongst medical and therapist professionals in the UK
Provide support for anyone who wishes to take part in sporting fundraisers for the Norrie Disease Foundation
Promote new research into Norrie disease
Ensure accurate information on Norrie disease is accessible to everyone

fundraising@norriedisease.org.uk

Louise Atkins – Trustee

Treasurer

Louise is a Norrie Disease Foundation trustee and Mum to 2 children, Sasha (11) and Livi (10). She is married to Jake who works in communications.

Louise is a Senior lecturer in Early Years at the University of Greenwich and a Senior Fellow of the Higher Education Academy. Under her role at the university Louise teaches on the Ba (Hons) programme, co-ordinates and teaches on the Early Years Teacher Status Programme and co-ordinates the Early Years CPD network arranging continuous professional development for the university’s local community of Early Years practitioners. Louise is also two thirds of the way through her doctorate in Education. Her research for her thesis is around looking at the impacts of formal teaching versus play experiences in preschool on children’s wellbeing. Louise is also an ex-early years Ofsted inspector.

Louise’s background in early years means she brings an excellent knowledge of child development, policy and practice to the Norrie Disease Foundation along with a strong working knowledge of legislation and data protection. Louise also has up to date knowledge and understanding of safeguarding.

Louise is research active, and understands research processes having helped write bids for funding. She is immersed in mentoring through the Early Years Teacher Status and writes and delivers training to mentors and has also been part of research into best practice which has applications across any field.

Louise decided to support the Norrie Disease Foundation as on a personal note she feels very passionately about ensuring that all children have the capability to reach their full potential. Louise’s daughter, Livi is good friends with Josh who has Norrie disease and says ‘I have seen the complications/barriers/triumphs/heartbreaks (all be it from a distance) around understanding, access, research (lack of) and support and would be honoured to be a part of supporting the Norrie Disease Foundation to raise awareness and help you in reaching your goals to support an underrepresented community’.

Louise’s Vision for the Norrie Disease Foundation is:

To ensure the Norrie Disease Foundation is up-to-date with relevant policies; legislation and data protection
To raise awareness and promote research towards better access to mental health provision
To establish a network of regional fundraising groups
To support the Norrie Disease Foundation’s participation in annual and ‘bigger’ fundraising events

louiseatkins@norriedisease.org.uk

NDF Operations team

Kelly Robinson – Researcher and Education Coordinator responsible for:

Liaising with researchers and medical professionals
Helping to set up and promote the Norrie Disease Foundation patient registry
Promoting new research
Attending other patient advocacy groups’ events; research seminars; conferences to represent the Norrie Disease Foundation
Raising awareness and educate the public about Norrie disease through the medical community
Creating Norrie disease literature
Supporting fundraising sporting events

Wendy Horrobin – Norrie Disease Foundation Coordinator and responsible for:

Overseeing all Norrie Disease Foundation activities
Coordinating and working on driving new research forwards along with Kelly Robinson
Setting up a Norrie Disease Patient Registry
Coordinating the Norrie Disease Foundation Medical Advisory Board meetings
Coordination of the Norrie hearing research and community participation
Raising profile of Norrie disease through Patient Advocacy Groups; research seminars; conferences; workshops

wendyhorrobin@norriedisease

Kelly Leggett – Norrie Disease Foundation Data Officer and Events Officer responsible for:

Overseeing the collation of data and ensuring the Norrie Disease Foundation complies with all GDPR requirements
Organising and liaising with community over family days and events
Managing event logistics#
Supporting the work of the Norrie Disease Foundation Coordinator

Louise Atkins – Chief Operations Officer responsible for:

Managing Website Coordinators and Family Support Coordinators
Managing Regional Fundraising groups
Researching large-scale events
Corporate sponsorship
Safeguarding
Data, policy and legislation

Tom Leggett and Laura Fullick – Family Support Coordinators

Tom Leggett

Tom is married to Kelly and has Harrison who is 7, and Alfie who is 4 with Norrie disease. Tom says ‘Following Alfie’s diagnosis I endeavoured to find out as much about Norrie disease as possible and to connect with families in the UK and globally. When Kelly and I found out about Alfie’s diagnosis we went straight to the Internet and Wikipedia. This made us feel so much worse as the information available at the time was incredibly derogatory towards the condition. After that, we both agreed that we would hate for anyone else to feel the same way’.

Tom works in construction and outside of the Norrie Disease Foundation Tom’s interests include a variety of sports, especially football. He is a keen runner and mountain biker. Tom is also a first responder with the East of England Ambulance Service.

Laura Fullick

Laura is married to Michael and has a son Rhys aged 20 with Norrie disease and a daughter Amber aged 17.

Laura works as an LSA in a Primary school and loves working with young children.

Laura says ‘Rhys is completely blind with moderate hearing loss in both ears. He is underweight and tires easily. He is funny, cheeky, bright, loving and has a big heart. He has always loved animals and is interested in other languages/cultures. He is passionate about learning Spanish and finding out about Latin America. He wants to travel the globe one day. He loves children and has great empathy for anyone going through a tough time in life.

He had a very tough journey through the education system so I am extremely proud of all he has achieved.

My daughter Amber is very protective of Rhys, she is a lovely girl and is very accepting of the diversity in our society.

Raising a Norrie child can be very challenging but also extremely rewarding’.

Tom and Laura are responsible for:

Connecting families to the Norrie Disease Foundation
Helping Norrie families meet and connect
Encouraging families to hear and share experiences
Liaising with the Norrie community about family fun days

If you would like to be in touch with Tom or Laura you can email them on: enquiries@norriedisease.org.uk

Jamie Wicks – PR and Communications Officer

Jamie Wicks

Jamie Wicks is an experienced marketing, publicity and digital media professional. Jamie curates and delivers award-winning campaigns for high-profile entertainment brands both in the UK and internationally.

Jamie is brother to Kelly Leggett and uncle to Alfie Leggett, who has Norrie disease. His family connection with Norrie disease is what enthused Jamie to join the Norrie Disease Foundation.

Jamie is responsible for:

Helping strengthen the Norrie community in the UK by connecting families to the Norrie Disease Foundation.
Promoting and facilitate access to clear information.
Building public awareness and understanding of Norrie disease and the Norrie Disease Foundation in the UK

You can email Jamie on enquiries@norriedisease.org.uk

Norrie Disease Foundation Ambassadors

Simon Reeve

While presenting The Big Life Fix for BBC Children in Need, Simon Reeve met Josh, who has Norrie Disease and was born blind, and heard first-hand how difficult Josh finds it to cope with the school playground. The ‘fix’ was an especially adapted play facility that incorporated guidance paving or ‘braille for feet’ that gave Josh the confidence to play with other children.

Simon Reeve said: “Meeting Josh through The Big Life Fix drove home how difficult life is for children affected by Norrie disease. There are huge obstacles in the way of many of those everyday things we take for granted for our children. Having an organisation like the Norrie Disease Foundation to raise awareness of these challenges and to provide vital support can make all the difference to the children and families affected. I’m happy to be able to support a worthwhile charity.”

Selina Litt

Selina was the first female in the world to be diagnosed with Norrie Disease. Her brother and two uncles are also affected by the condition. Selina was born with vision, but gradually lost it over the years and now just has light perception in her left eye.

Selina says ‘Whilst coping with sight loss is challenging at times, I do my best to live life to the full. My biggest achievements are graduating with a First Class English Language and Literature degree and representing England at the Glasgow 2014 Commonwealth Games in athletics.

At present I work part-time as an Expert by Experience, helping the CQC with inspections of health and social care services.

In my spare time I enjoy blogging, learning languages, reading, volunteering at my local Brownie pack, walking my cheeky Guide Dog Calvin and participating in sport.

It was a pleasant surprise when I was asked to be an ambassador for the Norrie Disease Foundation. Growing up it was near impossible to find out much about the condition. I am very much looking forward to connecting with the Norrie disease community, sharing my knowledge and experience and helping to spread awareness of Norrie disease.’

Anthony Pitch Ryers

Anthony Pitch Ryers is from Belgium and born in 1992. Anthony knows how to live every minute of his live to the full – radiating passion and enthusiasm. When he is not busy studying communication and media studies at KU Leuven university or traveling the world independently, spending time with friends or exploring new cultures, he acts as one half of the melodic dance music DJ and producers of duo @XiJaroAndPitch. Their Performances have brought them to international venues in countries like Switzerland and the Netherlands, while their studio work has been a hit with Legends such as Armin van Buuren, Paul van Dyk, and John O’Callaghan, to name a few. You can experience their unique uplifting and entrancing sounds through their own monthly Open Minds podcast Open minds.

In the rest of his time Anthony also forms a vital part of the @ICCBelgium team. There, he organizes international events and conferences for blind and visually impaired young people and gives workshops on cutting edge technology which helps them in their study and professional lives. Whatever Anthony does, it will be true to his life motto, “Your only limit, is your own imagination.”

It is exactly this message of hope and encouragement that Anthony wants to spread as a Norrie Disease Foundation ambassador, within the Norrie community and beyond. By putting his expertise to practical use, he hopes to contribute to the development of a strong Norrie community across Europe, empowering and advocating for more awareness and research. Anthony says ‘It is a true honour to be part of this organisation. No less than a year ago, I didn’t know of any other people with Norrie disease, let alone that any research on the condition was being done. When I discovered the Norrie Disease Foundation and experienced their mission and shared passion of connecting people and promoting research first hand, that changed drastically. Offering my help to spread the word and reach even more people with our story and message, was for me hence not more than a natural step to follow.’

David Wilkins

David Wilkins has Norrie disease which has left him totally blind from birth and partially deaf since the age of 13. David says ‘The latter was a serious blow because I knew exactly what I was losing. However I’ve always been encouraged to have adventures, and not to allow my disabilities to define who or what I am. For this reason I’ve worked in South Africa, Guernsey and in the European Parliament.

By trade I am a journalist and I enjoy sailing on tall ships in fair and foul weather. Nothing beats standing on the top of the rigging with the wind in your face, or clinging to a rope as the ship pitches about like a mad thing and you stand legs apart to stop falling over. I can see you don’t believe me, fine be like that!’

David said ‘It was an absolute honour to be asked to become an ambassador for the Norrie Disease Foundation. I’m here to promote our organisation and to speak for them wherever I go, locally, nationally and I hope one day internationally too. The foundation is involved in long and short term projects that will lead to the benefit of people affected by Norrie disease, a condition which I’m delighted to promote and raise money for as well. I’m also here to speak to parents and families who are wondering how to deal with this condition – I may push you at times, I may not always agree with what you say but I will always believe in you and push you forward. I’ve made friends with some people in the wider Norrie community and will be traveling to Slovakia to meet a family this march.

If you would like to be in touch with Selina, Anthony or David please email enquiries@norriedisease.org.uk

Annual Reports

Here you can download the Norrie Disease Annual report and accounts
for the year ended 31 December 2017.

Signposting Links

Blind Children UK and Guide Dogs became fully integrated into one charity in January 2017 so that they can build on existing services and support more children with sight loss. They can now provide support for people with sight loss throughout their lives for as long as they need it.

www.blindchildrenuk.org.uk

ClearVision is a postal lending library of children’s books designed to be shared by visually impaired and sighted children and adults.

www.clearvisionproject.org

Deafblind is a national charity providing support services to, and campaigning on behalf of, deafblind adults and their carers.

www.deafblind.org.uk

Findacure is a UK charity that builds the rare diseases community to drive research and develop treatments.

www.findacure.org.uk

Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders.

www.geneticdisordersuk.org

Living Paintings is a charity that produce Touch to see books for blind and partially sighted people of all ages.

www.livingpaintings.org

The Norrie Disease Association – a diverse organization eager to serve individuals with Norrie disease, as well as their families, social circles, educators, employers, and medical professionals. The Norrie Disease Association are working to expand their collective knowledge of Norrie disease by facilitating collaboration among these groups.

www.norriedisease.org

Rare Disease UK (RDUK) campaign on behalf of all those affected by a rare disease and all who support them.

www.raredisease.org.uk

The Royal National Institute of Blind People (RNIB) is a UK charity offering information, support and advice to almost two million people in the UK with sight loss.

www.rnib.org.uk

SENSE The national (UK) voluntary organization working with and supporting people of all ages who are deafblind or have associated disabilities.

Families seeking Identification Reports and Multi Sensory assessments should visit https://www.sense.org.uk/get-support/information-and-advice/support-for-children/ alternatively you can contact Anthony McKay, Anthony.McKay@sense.org.uk

www.sense.org.uk

VICTA supports blind and partially sighted children, young people and their families. VICTA provides support to children and young adults ages 0 to 29.

www.victa.org.uk

We work across the UK so people with hearing loss are supported and can live the life they choose. Our work includes providing high-quality support and care so people confronting deafness, hearing loss and tinnitus have their needs met. We fund research to find a cure for hearing loss, and encourage the take-up of new technology and medical treatments to help manage the condition.

www.actiononhearingloss.org.uk

Science Board

The Norrie Disease Foundation will be guided by the Scientific Medical Advisory Board in scientific matters including research efforts and direction. Our board consists of renowned experts in the field and we are very grateful to them for giving their time and expertise to the Norrie community.

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Professor Wolfgang Berger

Professor Berger is Director at the Institute of Medical Molecular Genetics (IMMG), University of Zurich, Switzerland. He became full Professor at the Medical Faculty of the University of Zurich in 2002. Before this appointment he was affiliated as an Associate Professor at the Max Planck Institute for Molecular Genetics in Berlin, Germany.

Professor Berger has a Diploma in Biology (1983) from the University of Greifswald, Germany; a PhD in Life Sciences (1989) from Humboldt-University, Berlin, Germany; the ‘Venia Legendi Humangenetik’ (1999) from the Medical Faculty(Charité), Humboldt-University Berlin, Germany; and holds the title as a ‘Specialist for Medical Genetic Analysis FAMH’ (April 2005).

Professor Mehul Dattani

Mehul Dattani is Professor of Paediatric Endocrinology based at the University College London (UCL) Institute of Child Health, and Head of Clinical Service in Endocrinology at Great Ormond Street Hospital for Children (GOSH). He has an active clinical practice in paediatric and adolescent Endocrinology at GOSH and University College London Hospitals (UCLH). He is Head of the Genetics and Epigenetics in Health and Disease (GEHD) Section within the Genetics and Genomic Medicine Programme at ICH. He recently completed a 3-year term as Chair of the British Society for Paediatric Endocrinology and Diabetes, and is current Chair of the Programme Organizing Committee and member of the Council of the European Society for Paediatric Endocrinology (ESPE). He has recently been elected President of the European Society for Paediatric Endocrinology in 2020.

Professor Dattani has established a laboratory group investigating the molecular basis of hypothalamo-pituitary disease at UCL. He has identified novel genes implicated in hypothalamo-pituitary development in patients with congenital hypopituitarism, and more recently has worked on understanding the molecular basis of a paediatric brain tumour called adamantinomatous craniopharyngioma. His work has been recognised nationally and internationally with publications in a number of high impact journals and national and international awards for the work, including the Donald Paterson prize awarded by the Royal College of Paediatrics and Child Health and the Henning Andersen prize awarded by ESPE. He sits on numerous advisory boards and editorial boards of journals.

Professor Dattani’s research group is currently studying the genetic basis of growth disorders. He also has an interest in a number of rare endocrine disorders, usually due to disordered development of endocrine organs.

Mr Robert Henderson

Mr Henderson is a dual trained Paediatric Ophthalmologist and Vitreo-Retinal Surgeon working at both Great Ormond Street Hospital and Moorfields Eye Hospital. He initially undertook his Registrar ophthalmology training at Moorfields Eye Hospital and completed a highly prestigious fellowship training at the Hospital for Sick Children, Toronto (Sick Kids). Following this he trained at the Royal Victorian Eye & Ear Hospital, Melbourne before coming back to Moorfields for a final year. He founded the Vitreo-retinal unit at Great Ormond Street with his colleague Mr Chien Wong, and it is now the UK referral centre for infants with retinovascular disease.

Mr Henderson’s MD research was on the molecular genetics of early onset severe retinal dystrophies and he recruited patients for the first human retinal gene therapy trial. He is now setting up a research programme on paediatric retino-vascular disease: understanding the molecular mechanisms, and developing novel therapies in collaboration with colleagues at the UCL Institutes of Child Health and Ophthalmology. Having a greater understanding of the role of Norrin protein in retino-vascular development is very much a part of that research profile.

Professor Corné Kros

Corné Kros MD PhD is Professor of Neuroscience at the University of Sussex. He qualified as a medical doctor at the University of Groningen, in the Netherlands. He went on to do a PhD in physiology at Cambridge, studying the physiology of inner hair cells, the sensory receptor cells in the cochlea that signal the reception of sound to the brain. In his research he continued to focus on cochlear hair cell physiology, in particular the properties of spontaneous activity in pre-hearing inner hair cells and the process of mechano-electrical transduction by which these cells detect sound. His current interests, funded by the Medical Research Council (MRC) and Action on Hearing Loss, lie in the detrimental side effects of aminoglycoside antibiotics and the antineoplastic drug cisplatin on hearing, and the development of blocking agents that might prevent hair-cell damage due to treatment with these drugs. The prospect of gradually developing hearing loss adds to the difficulties experienced by boys born blind due to Norrie disease, as well as by their family members and carers. As an honorary member of the Medical Advisory Board for the Norrie Disease Foundation, Professor Kros aims to apply his insights into the physiology of the inner ear to help find approaches to understand and treat the consequences for hearing of mutations in the gene encoding the Norrin protein.

Dr Ngozi Oluonye

Dr Ngozi Oluonye is a Developmental Paediatrician and has worked as a Consultant in the National Health Service (NHS) for 13 years. Dr Ngozi Oluonye is currently employed by Great Ormond Street Hospital in the Neurodisability Service and works in the Neurodevelopmental Assessment service and the Developmental Vision clinics. She works within a highly specialised Multidisciplinary team of Psychologists, Speech and Language Therapists and Occupational Therapists. Dr Ngozi Oluonye assesses children referred from secondary services, with complex Neurodevelopmental Profiles and Visual disorders.

Dr Ngozi Oluonye also works at Moorfields Eye Hospital one day a week where she runs a preschool joint Low Vision Assessment Clinic with the Specialist Optometrists at Moorfields. Here Dr Ngozi Oluonye supports the Paediatric Cataracts and Medical Retina clinics as well as General Ophthalmology and Neuro-Ophthalmology clinics. Dr Ngozi Oluonye is an Executive Member of a research charity (the Association for Research in Childhood Development) and is a tutor with the organisation. Dr Ngozi Oluonye has four teenaged and adult children (one set of twins) and enjoys travelling, listening to music and going for long walks.

Dr Tony Sirimanna

Dr Sirimanna is a Senior Consultant Audiological Physician at Great Ormond Street Hospital for Children (GOSH). He has been a Consultant Audiological Physician since 1994 following 5 years of training in the specialty and being an ENT Surgeon for 10 years prior to that including 2 years at consultant level and has international recognition for his work. He was the Lead Clinician for Audiology, Audiological Medicine and Cochlear Implant Departments at GOSH until 2016. He is also the Medical Lead and a Quality Assurance consultant for the National Newborn Hearing Screening Programme (NHSP) in England. He was instrumental in setting up the only aetiological investigation (of Hearing Loss) course in the UK and had trained over 200 doctors within and outside the UK. Dr Sirimanna was also the Paediatric Audiology Lead for London and the Vice Chair of the Specialty Advisory Committee in Audiovestibular Medicine (AVM) at the Royal College of Physicians in London.

Dr Sirimanna’s research interests include aetiology of hearing loss, bone anchored hearing aids, auditory neuropathy spectrum disorder, auditory processing disorder and newborn hearing screening. He is a member of the British Association of Audiological Physicians, British Society of Audiology, British Academy of Audiology, American Academy of Audiology and International Association of Physicians in Audiology.

E-mail: tony.sirimanna@gosh.nhs.uk

Professor Jane Sowden

Jane Sowden, PhD, is the GOSHCC Professor in Developmental Biology and Genetics at UCL Great Ormond Street Institute of Child Health. She qualified in Biochemistry at Oxford University and was awarded a PhD in Molecular Genetics at UCL in 1991, followed by postdoctoral training at the MRC Human Biochemical Genetics Unit. In 1996 she was awarded a 4 year MRC Career Development Award to work on retinal development at the Institute of Ophthalmology, UCL and subsequently moved to the Institute of Child Health as a Lecturer to establish the Eye Development and Repair Research Group focusing on congenital and inherited eye conditions causing childhood blindness. From 2007-2013 she was Lead Scientist for ocular molecular genetics research in the Ulverscroft Vision Research Group. She was promoted to Professor in 2011, holds a GOSHCC Research Leader Award since 2012 and was made NIHR Senior Investigator in 2016. She leads the Advanced Treatments for Malformation and Tissue Damage Theme in the NIHR Great Ormond Street Hospital UCL Biomedical Research Centre. She has published widely on retinal development, genetic causes of congenital eye defects and childhood blindness, and developing stem cell therapies for retinal disease including landmark studies demonstrating the feasibility of retinal repair by cell transplantation. Her current research aims to improve genetic diagnosis of childhood eye conditions and to develop novel stem cell and gene based therapies.

Mr Chien Wong

Mr. Wong is a consultant ophthalmologist and vitreoretinal surgeon in London, UK, at Great Ormond Street Hospital for Children (GOSH), Moorfields Eye Hospital and the Royal Free Hospital. He had previously undertaken unique multi-fellowship training in both adult and paediatric vitreoretinal surgery at the internationally leading institutions of Moorfields Eye Hospital in London, Beaumont Hospital in Michigan and Children’s Hospital Los Angeles. With a super-specialty practice in complex paediatric vitreoretinal surgery and retinovascular diseases, he introduced novel endoscopic vitrectomy for retinopathy of prematurity (ROP) to the UK in 2014, making GOSH only one of two centres in the world with expertise in this treatment. In collaboration with Oxford University, GOSH has become the de facto UK national surgical centre for all patients with retinal detachment in ROP.

He has published extensively in the field of paediatric vitreoretinal surgery and has run over 20 surgical courses as Lead or Co-Instructor both in the UK and internationally. This includes being the current course director of “Paediatric Vitreoretinal Disorders: Current & Future Management” at the American Academy of Ophthalmology annual congress.

Additionally, Mr Wong is the UK Chief Investigator and Moorfields Eye Hospital Principal Investigator for the RAINBOW trial, an international randomised controlled trial of intravitreal ranibizimab versus standard-of-care retinal laser.

Beyond the UK, he works closely with the Armenian Eye Care Project to support their ROP screening and surgical treatment program, including training a local team at their new national paediatric vitreoretinal surgical centre.

Professor Maria Bitner-Glindzicz

‘Maria went out of her way to meet and listen with families to see how she could help each and every one of them’

The Norrie Disease Foundation was created with help, support and dedication from Professor Maria Bitner-Glindzicz who very sadly died in September 2018. Maria was a clinical and molecular geneticist at UCL Great Ormond Street Institute of Child Health with a special interest in childhood genetic deafness. Maria became a firm advocate of the Norrie community after being approached by parents who asked for help to try and stop the Norrie disease progressive hearing loss. Maria went on to be the driving force behind the creation of the Norrie Disease Foundation and the formation of its Medical Advisory Board. In 2017 Maria was responsible for initiating pioneering research at UCL Great Ormond Street Institute of Child Health funded by Sparks and Newlife to find a way of treating the Norrie disease progressive hearing loss through gene therapy. This laboratory study is on going.

Maria was passionate about finding ways to help combat the isolation and loneliness that living with a rare disease causes and would join Norrie community events, talking with families to understand more about their lives. The Norrie Disease Foundation wouldn’t be where it is today without Maria’s incredible support and along with the Norrie Disease Foundation’s Medical Advisory Board remains committed and dedicated to continuing Maria’s work to the Norrie community.

Professor Berger’s research interests include the genetic basis of monogenic and complex human disease with focus on retinal degenerations and dysfunctions (retinitis pigmentosa, macular degeneration, night blindness, exudative vitreoretinopathies, Norrie disease, Wagner disease); the molecular pathophysiology of retinal diseases; signaling pathways in retinal angiogenesis; generation and characterization of mouse models for monogenic human retinal degenerations. He and his research team are members of the Neuroscience Center of the University and ETH Zurich (ZNZ) as well as the Center for Integrative Human Physiology (ZIHP) at the University of Zurich. In addition to his research activities, Professor Berger is head of a diagnostic unit at IMMG, which provides genetic testing for a wide variety of monogenic (Mendelian) human diseases (e.g.neurologic, cardiac, ocular diseases). For more details please refer to the website of IMMG in Zurich: http://www.medmolgen.uzh.ch/en.html

Professor Berger’s Memberships in Professional Societies include: Membership of the American Society of Human Genetics (ASHG); Association for Research in Vision and Ophthalmology (ARVO); European Society of Medical Genetics (ESHG); Foederatio Analyticorum Medicinalium Helveticorum (FAMH); Swiss Society of Medical Genetics (Co-President 2010-2016).

Professor Berger’s Board memberships include: Swiss Society of Medical Genetics, elected Board Member (2005-2016) and Co-President FAMH (2010- 2016); Scientific Board member of the ‘Swiss Cohort Study on Air Pollution and Lung Disease in Adults (SAPALDIA)’ since March 2006; Foederatio Analyticorum Medicinalium Helveticorum (FAMH), Swiss Association of Directors in Laboratory Medicine, member of the ‘’Committee of Experts’ since July 2007; Scientific and Medical Advisory Board, Retina Suisse since April 2008.

Publications (last 6 years)

2017
Holst S, Müller T, Valomon A, Seebauer B, Berger W, Landolt HP (2017) Functional polymorphisms in dopaminergic genes modulate neurobehavioral and neurophysiological consequences of sleep deprivation. Sci Rep (in press).

Medeiros-Domingo A, Saguner AM, Magyar I, Duru F, Bahr A, Akdis D, Brunckhorst C, Berger W (2016) Arrhythmogenic right ventricular cardiomyopathy versus dilated cardiomyopathy: Implications of next generation sequencing in appropriate diagnosis. Europace (Epub ahead of print).

Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2017) Post-mortem whole exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet (Epub ahead of print).

Urry E, Jetter A, Holst SC, Berger W, Spinas GA, Langhans W, Landolt HP (2016) A case-control field study on the relationships among type 2 diabetes, sleepiness and habitual caffeine intake. J Psychopharmacol. (Epub ahead of print).

2016
Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet 53:419-425.

Kloeckener-Gruissem B, Dours-Zimmermann MT, Skosyrski S, Brunner S, Mjaatvedt CH, Zimmermann DR, Rüther K, Berger W (2016) A potential mouse model for the erosive vitreoretinopathy of Wagner disease. Matters 20160500004.

Neubauer J, Haas C, Bartsch C, Domingo-Medeiros A, Berger W (2016) Postmortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med 130:1011-1021.

Tiwari A, Bahr, Baehr L, Fleischhauer J, Zinkernagel M, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W (2016) Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep 6:28755.

Tiwari A., Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W (2016) Identification of novel and recurrent disease causing mutations in retinal dystrophies using whole exome sequencing (WES): Benefits and limitations. PLoS ONE 11:e0158692.

Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E (2016) Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Invest Ophthalmol Vis Sci 57:2637-2646.

2015
Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J (2015) Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Ther 22:413-420.

Gerth-Kahlert C, Seebauer B, Dold S, Hanson JVM, Wildberger H, Spörri A, van Waes H, Berger W (2015) Intra-familial phenotype variability in patients with Jalili syndrome. Eye 29:712-716.

2014
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J (2014) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 22:99-104.

Haghighi A, Tiwari A, Piri N, Nurnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nurnberg P, Berger W (2014) Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome. PLoS ONE 9: e112747.

Holst SC, Bersagliere A, Bachmann V, Berger W, Achermann P, Landolt HP (2014) Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. J Neurosci 8:566-573.

Oczos J, Sutter I, Kloeckener-Gruissem B, Berger W, Riwanto M, Rentsch K, Hornemann T, von Eckardstein A, Grimm C (2014) Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Invest Ophthalmol Vis Sci 55:4714-4727.

Valomon A, Holst SC, Bachmann V, Viola AU, Schmidt C, Zürcher J, Berger W, Cajochen C, Landolt HP (2014) Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiol Int 31:705-714.

2013
Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SMR, Kloeckener-Gruissem B (2013) The Cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet 22:3218-3226.

Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkie wicz E, Rutland J, Morgan LC, Pogorzelski A, Martin J, Haan EA, Berger W, Omran H, Witt M (2012) RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol 48:352-363.

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP (2013) ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci USA 110:9856-9861.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W (2013) Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet 21:352-356.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, QamarR, Webster AR, Cremers FP, Moore AT, Koenekoop RK (2013) Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat 34:1537-1546.

Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W. (2013) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age (Dordr) 35:1651-1662.

Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J (2013) A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther 24:97-104.

Thun GA, Imboden M, Berger W, Rochat T, Probst-Hensch NM (2013) The Association of a Variant in the Cell Cycle Control Gene CCND1 and Obesity on the Development of Asthma in the Swiss SAPALDIA Study. J Asthma 50:147-154.

2012
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C (2012) Whole-exome sequencing identifies mutations in GPR179 leading to autosomal recessive complete congenital stationary night blindness. Am J Hum Genet 90:321-330

Bachmann V, Klaus F, Bodenmann S, Schäfer N, Brugger P, Huber S, Berger W, Landolt HP (2011) Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cereb Cortex 22:962-970.

Bachmann V, Klein C, Bodenmann S, Schäfer N, Berger W, Brugger P, Landolt HP (2012) The BDNF Val66Met polymorphism modulates sleep intensity: EEG frequency- and state-specificity. Sleep 35:335-344.

Menghini M, Kloeckener-Gruissem B, Fleischhauer J, Kurz-Levin MM, Sutter FKP, Berger W, Barthelmes D (2012) Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age related macular degeneration. PLoS One 7:e42014, Epub July 25.

Oczos J, Grimm C, Barthelmes D, Sutter F, Menghini M, Kloeckener-Gruissem B, Berger W (2012) Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). AGE (Epub September 7 2012).

Zuercher J, Fritzsche M, Feil S, Mohn L, Berger W (2012) Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cell. Hum Mol Genet 21:2619-2630.

Zweifel SA, Maygar I, Berger W, Tschuor P, Becker M, Michels S (2012) Multimodal imaging of autosomal dominant drusen. Klin Monbl Augenheilkd 229:399-402.