Chair and Coordinator
Wendy is Chair and Coordinator of the Norrie Disease Foundation. Wendy is married to Simon and has two children, Chloe 10, and Josh 8, who has Norrie disease. After studying music, Wendy taught English as a second language abroad and then came to settle in the UK working as a project manager for the Education Learning Programme at the Millennium Dome.
Wendy became involved with setting up the Norrie Disease Foundation, recognising the importance of promoting fresh new research into Norrie disease and the need for greater support for Norrie families through sharing resources and contacts. Wendy is a board member for the Norrie Disease Association in the USA and attended the Norrie Disease Association conference in Boston in 2015. The conference was attended by families from around the world and it was the first time Wendy had met other families affected by Norrie disease.
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 the legal requirements of a CIO; namely, to call the board meetings as stipulated in the Norrie Disease Foundation’s charter and to act as a first point of contact for the medical community and the Norrie community in the UK.
Wendy's vision for next year is:
Secretary and Fundraising and Events Officer
Kelly is the Norrie Disease Foundation’s Secretary as well as the Fundraising and Events Officer. Kelly is married to Tom, the Norrie Disease Foundation’s Family Liaison Officer, and has two children, Harrison 5 and Alfie 2 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 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 new found interest in arts and crafts with her older son Harrison making tactile toys and books for Alfie.
Kelly's role as secretary includes organising meetings, maintaining records, communicating with members and to act as a first point of contact for Fundraising and Events.
Kelly's vision for the next year is:
Treasurer and Education Officer
Theresa is Treasurer of the Norrie Disease Foundation. 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 Treasurer when asked as she could see how much benefit could be gained from the setting up of the foundation. Theresa’s role as Treasurer along with the rest of the board is to support families affected by Norrie disease, raise awareness, educate the general public, and encourage research efforts in Norrie disease.
Theresa’s role includes making sure the charity keeps proper accounts, reporting on financial matters and planning budgets for how the charity can make the best use of any money it raises.
Theresa’s vision for the next year is:
Family Liaison Officer
Tom is the Foundation’s Family Liaison Officer. Tom, along with Kelly, the Norrie Disease Foundation’s Secretary and Fundraising and Events Officer has Harrison who is 5, and Alfie who is 2 with Norrie disease.
Tom's main reason for joining the foundation is to be able to provide support and guidance for families and individuals who have been diagnosed with the condition; to help families who are looking to hear and share experiences; and to share contacts and resources for Norrie families.
Following Alfie’s diagnosis Tom endeavored to find out as much about Norrie disease as possible and connect with families in the UK and globally.
Tom says “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 derogative towards the condition. After that, we both agreed that we would hate for anyone else to feel the same way.”
Tom works for Ford and outside of the charity 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.
Tom's vision for next year is:
If you have Norrie disease or have a child with Norrie disease Tom can invite you to a closed Norrie support group where you can hear and share experiences.
Events Fundraiser and Awareness Officer
Kelly 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 neurodisability. 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 vision for the next year is to:
I’m David Wilkins and I’ve been a sufferer of Norrie Disease for as long as I’ve lived. 30 years! Even I still can’t quite believe it! In my case it has caused me to be totally blind with no light perception at all, partially deaf with hearing aids in both ears and dyslexic. I also have weak ankles that may or may not be related to the gene effect. This sounds like a depressing way to start a mentoring profile but I assure you that it is nothing more than a statement of facts. I am disabled, and it is thanks to Norrie that I am disabled. But there is no reason why Norrie should hold you back. Indeed it will only hold you back if you allow it too.
Thanks to my parents I have gone from strength to strength in my life. I’ve done a 12000 foot parachute jump from a plane (not solo), I’ve sailed the high seas on a tall ship for the disabled which involved climbing the mast right to the top and getting absolutely drenched more times than I care to remember. I even helped out with street Pastors, a charity that go out at night to assist party goers, making sure they get home safely giving them water and giving the ladies free flip flops. Who wants to wear high heels after a night out?
More importantly I’ve also been encouraged to follow the dreams I have as much as I can. I now live alone in a house of my own. I still need help with cleaning and looking after it, but I cook, wash and look after myself. I have also worked In South Africa, Lincoln and Guernsey as a journalist whilst pursuing my ultimate goal of being the BBC’s foreign correspondent in the city of Jerusalem (this hasn’t happened yet) and I continue to seek adventure wherever I can find it.
So why am I offering to be mentor? Because I believe and know that you can dream the undreamable, but this is no good unless you can see it happening in front of you. Maybe your dream is bigger than mine, or maybe you just want to make a cup of tea without any help, cross the road on your own, live alone one day and have a family. Maybe you are a parent on this group and you want to know whether your child can succeed, and what help they need from you. Maybe you’ve been told so many times what you cannot do or what your child cannot do that you’re finding it hard to decide what you can do for yourself. I’m here to help you along. If you’ve grown up or are growing up with Norrie I will get in touch with you, talk to you, encourage you and meet up with you. Maybe see if we can set some achievable goals, starting small and getting bigger as we go along.
If you are a parent who is expecting or has had a child with Norrie I’m here for you too. I may not be a parent myself, but I can give you some pointers based on what helped me when I was being brought up. Maybe you just would like someone to talk too, rather than someone who can help you dream big. That’s fine, I love to chat with people over Skype, email, facebook or phone. Oh yes and we’ll throw in some fun too, maybe meet up one day if we are in the area, or you feel you can make the journey down to see me on your own. Or I can come to you. Hope you’ve got some good jokes and funny stories, I’ve told my own far too often!
A final word of warning before you say yes. You might find I drive you mad sometimes by pushing you to try something you find challenging. Sometimes I might violate something you hold sacred, and tell you it isn’t working. But I can promise you now that I will always listen to what you have to say, I will never make you do something you never want to do and I will always believe in you. If you want to get in touch, please do.
PR and Communications Officers
Vikki is an award winning publicist, writer and the owner of Press Contact Limited. Vikki has designed and implemented award-winning communications campaigns for various societies, groups and individuals in the UK and overseas.
Vikki’s main reason for joining the Norrie Disease Foundation is to support her friend Wendy and their family and friends as they endeavour to strengthen and unite a rare disease community through access to shared resources, contacts and fresh research.
Vikki’s vision for the next year is:
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's vision for the next year is:
Genetic Disorders UK is a registered charity with a vision to improve the lives of individuals and families affected by genetic disorders.
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.
Findacure is a UK charity that builds the rare diseases community to drive research and develop treatments.
VICTA supports blind and partially sighted children, young people and their families. VICTA provides support to children and young adults ages 0 to 29.
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.
ClearVision is a postal lending library of children's books designed to be shared by visually impaired and sighted children and adults.
Deafblind is a national charity providing support services to, and campaigning on behalf of, deafblind adults and their carers.
Living Paintings is a charity that produce Touch to see books for blind and partially sighted people of all ages.
Rare Disease UK (RDUK) campaign on behalf of all those affected by a rare disease and all who support them.
SENSE The national (UK) voluntary organization working with and supporting people of all ages who are deafblind or have associated disabilities.
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.
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.
Professor Maria Bitner-Glindzicz
Professor Maria Bitner-Glindzicz is a clinical and molecular geneticist and her research interest and clinical expertise is in the field of childhood genetic deafness. Professor Bitner-Glindzicz’s group investigates causes of inherited forms of deafness in order to understand the molecular mechanisms involved. They have identified several genes causing syndromic and non-syndromic deafness in children and have used these discoveries to improve molecular diagnostic services offered to families. Their Regional Laboratory is a national expert centre for genetic deafness. Professor Bitner-Glindzicz is an invited assessor for the European Molecular Genetics Quality Network, an external quality assessment organization; the role of the group is to set cases and score molecular genetic reports from laboratories participating in the deafness scheme.
Professor Bitner-Glindzicz is currently involved in delivery of the 100,000 Genomes Programme; this project, funded by the UK National Health Service, aims to transform healthcare by delivering Whole Genome Sequencing as part of routine clinical service. She is Lead for Rare Diseases for the North Thames Genomic Medicine Centre (GMC), a consortium of 7 hospitals and specialist centres in London. Professor Bitner-Glindzicz holds a weekly genetic deafness clinic at Great Ormond Street Hospital for Children and the Royal National Throat Nose and Ear Hospital (RNTNEH) and a monthly dual sensory impairment clinic at RNTNEH.
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.
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 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 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)
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).
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.
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.
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.
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.
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.
more / less
© Copyright Norrie Disease Foundation 2017
The Norrie Disease Foundation
PO Box 12476