EDS UK has brought together a Medical Advisory Panel consisting of specialists who work in many different fields, all of which are related to EDS symptoms. The EDS Medical Advisory Panel inform the charity, who in turn inform our community, of further medical developments.
EDS UK promote Ehlers-Danlos syndrome within the medical community; bringing medical professionals together giving them a better understanding of the care and improvements needed from a patient’s perspective. We also provide medical information provided by medical professionals in the form of literature sheets and books which can be found In our online shop.
EDS UK hold conferences, (day and residential) at which medical professionals inform those living with EDS on medical care, treatment, management and social aspects. The conferences also serve as an important tool to bring sufferers together from all corners of the UK.
By working with medical professionals, we aim to raise the profile of Ehlers-Danlos syndrome to achieve speedier diagnosis and a reduction in misdiagnoses.
The EDS UK medical advisory panel consists of the following people:
Dr Hanna Kaz Kaz
EDS UK Chief Medical Advisor
I’m absolutely delighted and honored to take up this position. EDS is a common genetic condition that affects many adults and children in the UK and across the world.
As a rheumatologist, I was extremely impressed by the improvement in the management of patients with inflammatory arthritis, autoimmune connective tissue diseases and osteoporosis over the past 15 years but was disappointed with the lack of understanding of EDS and other forms of heritable connective tissue conditions. We have very few centres in the UK where patients with EDS can be seen and treated.
I was fortunate to have worked with Prof Rodney Grahame at UCH . I started in 2008 and took over the management of the hypermobility service In March 2012 .Last week and with the official retirement of Prof RG, our department at UCH celebrated the 16th anniversary of the hypermobility clinic.
I’m very keen to work with the charity to raise awareness among primary and secondary healthcare professionals and to establish a network of medical experts who can provide advice regarding the management of complex cases. Together we can inspire other hospitals across the UK to provide appropriate services that can meet the clinical needs of patients with EDS,
Due to the lack of funding and interest, the number of research studies in this field has been very small. As a charity I believe we can move things forward .We can provide funds to start research projects and inform our members about the studies that are taking place to give them the chance to take part.
The first EDS International Conference was held in Belgium in 2012 and second one will be in 2015 .We will need to work hard to be able to play an active role in this meeting
I look forward to participate in various social and fund raising events with EDS UK.
I am professor of Neurogastroenterology at Barts and The London School of Medicine and Dentistry. Neurogastroenteology is a sub-speciality in Gastroenterology that manages patients who have problems of gut function due to involvement of gut nerves, muscles or brain gut interactions. I have a research interest in understanding the mechanisms of visceral pain in health and patients with functional gut disorders. More recently I have been very interested in the gut problems that occur in patients with Ehlers-Danlos syndrome (EDS) and I have conducted seminal research in this area to demonstrate a link between EDS and GI symptoms, and between EDS and functional disorders of the gut such as functional dyspepsia, Irritable bowel syndrome and motility disorders. As a member EDS UK panel I will work with other colleagues to achieve the following aims: i) educate patients and public about the range of problems that are linked with EDS and how these may be best managed. ii) help to formulate an NHS strategy for improved pathways of care for EDS patients and commissioning of services iii) advice on development of future research and development in the field of EDS research. Finally, I would also like to work with EDS UK to help develop its role towards research support through development of specific funding streams.
Dr Jane Simmonds MCSP MMACP FHEAPD, MA, PGDip, BApp Sc (Physio), BPE
Jane is a dedicated educator, clinician and researcher. Alongside her role as Professional Lead for Physiotherapy at the University of Hertfordshire she works as a clinical specialist physiotherapis at the Hypermobility Unit of The Hospital of St John and St Elizabeth, London. Jane has particular interests in helping children, adolescents and families to manage hypermobility related problems and to help them to optimise their quality of life. Research and clinical interests include; connective tissue disorders, functional rehabilitation, dysautonomia, sports injuries, performing arts injuries, chronic pain, fatigue metabolic bone disorders and facilitation of behaviour change.
Jane is keen to facilitate research, education and training for EDS Support UK and help to help establish strong links with the NHS, private medical providers, Schools and Higher Education Institutions.
Dr Nigel Burrows
I am a Consultant Dermatologist at Addenbrooke's Hospital, Cambridge. Following a period of clinical and genetic research into EDS with Professor Mike Pope in the mid-1990’s I continue to look after patients with Ehlers-Danlos syndrome. I am involved in clinical research, have written several book chapters, as well as lecturing on national courses on EDS. I run an EDS clinic in Cambridge and have recently set up a multidisciplinary team approach for our vascular EDS patients.
Over time I have observed greater awareness and understanding of EDS by the medical profession but there is still a long way to go! I hope that I will be able to continue to raise the profile of EDS amongst dermatologists and other health care professionals. The EDS Medical Panel is a great resource of specialists with different areas of knowledge that collaboratively can be harnessed to help EDS patients in the UK
Dr Alan Hakim
I qualified in Medicine at the University of Cambridge, and trained at Addenbrooke’s, Cambridge and University College Hospital, London. I was also an Arthritis Research Campaign Clinical Fellow at St Thomas’ Hospital before taking up my present post as Consultant Physician and Rheumatologist at Whipps Cross University Hospital in April 2000.
Over the following ten years, as the Lead for the Rheumatology Department I worked to sustain a high-quality Rheumatology and Osteoporosis service. This included a large portfolio of clinical trials in state-of-the-art medicines. I remain a Chief Investigator for the UK in several international clinical trials.
Education and research have always been an important part of my commitment to Rheumatology – I have over 100 publications, including chapters in five major textbooks and co-author of five books. I am particularly proud of bringing together over 30 international experts and producing, with the Professor and Rosemary Keer, Physiotherapist, the book entitled ‘Hypermobility, Fibromyalgia, and Chronic Pain’.
In July 2012 I rejoined Professor Grahame in the ever-expanding Hypermobility team at the Hospital of St John’s & St Elizabeth, London.
Registered Genetic Counsellor
As a Registered Genetic Counsellor I work with individuals and families with inherited conditions, including Ehlers-Danlos Syndrome. Genetic counselling involves providing relevant information, like discussing genetic test results and how different types of EDS can follow different patterns of inheritance in a family. My role in the EDS National Diagnostic Services is also to support individuals and families in coming to terms with a new diagnosis.
I'm delighted to join the EDS-UK medical panel. I hope to be able to raise awareness amongst the EDS community of what genetic counselling can and can't offer and how to access it, if required. I also want to help individuals and families access relevant information about the different types of EDS. In particular I'm keen to raise awareness of what is known about the genetics of the different types of EDS, including the role and limitations of current genetic tests.
Mr Vik Khullar
Vik Khullar is a specialist in urinary incontinence, bladder problems, prolapse and pelvic floor surgery. He is highly respected among his peers. He established a national NHS referral centre as well as setting up a private practice seeing patients on a national and international basis. He is vice-chairman of BSUG, an expert advisor for NICE and a vice chairman of the NIHR.
Professor Rodney Grahame
Rodney Grahame was a GP in St John’s Wood from 1959-1965 when he switched back to hospital medicine. After training in Rheumatology at the Hammersmith and West London Hospitals, he was appointed in 1969 a consultant in rheumatology & rehabilitation at Guy's Hospital in London, a position he held until 1997 when he moved to University College London Hospitals as emeritus professor and part/time consultant rheumatologist where he has run a hypermobility clinic ever since
He is a past editor of ‘Rheumatology’ and has held the Presidency of the British Society for Rheumatology, The British League against Rheumatism (now renamed ARMA), and the Section of Rheumatology & Rehabilitation of the Royal Society of Medicine. From 1987-1995 he was Chairman of the Education and Publications Committee of the International League of Associations of Rheumatology (ILAR).
In 1990 the University of London conferred on him the title of Professor of Clinical Rheumatology. He has been elected to the fellowships of the Royal College of Physicians of London, the American College of Physicians, the British Society for Rheumatology and the Royal Society of Arts.
In 1998 he was awarded him a CBE, and he has also been honoured by the national rheumatology societies of France, Russia and the Czech Republic. In 2004 he was appointed an Honorary Consultant in Paediatric Rheumatology at Great Ormond Street Hospital for Children in London and Honorary Professor at University College London in the Department of Medicine. In 2010 he was appointed Affiliate Professor in the Department of Pathology, University of Washington, Seattle.
Professor Chris Mathias
Professor Christopher Mathias is Professor of Neurovascular Medicine in the University of London, with an appointment held jointly between the Faculty of Medicine, Imperial College London and the Institute of Neurology, University College London. He has been a Consultant Physician at St Mary’s Hospital since 1982 and at the National Hospital for Neurology and Neurosurgery, Queen Square, since 1985.
Professor Mathias is Clinical Service and Research Director of two leading departments specialising in autonomic and neurovascular disorders, the Neurovascular Medicine Unit at St Mary’s Hospital and the Autonomic Unit at the National Hospital for Neurology and Neurosurgery, Queen Square, London. Both are tertiary referral centres for the entire country, with a number of referrals from Europe and worldwide, which deal with a variety of autonomic disorders that include abnormalities of blood pressure control (especially postural hypotension and syncope) and disorders of temperature regulation (including excessive sweating) in a wide range of neurological and medical diseases. His clinical commitments include responsibility for a Neurovascular/Autonomic Clinic at St Mary’s, and an Autonomic Clinic at the National Hospital, with admitting and inpatient facilities in both hospitals.
Professor Mathias’ team of scientists and clinicians research the role of the autonomic nervous system in health and disease. Autonomic disorders ranging from autonomic (neurally) mediated syncope to hyperhidrosis are studied, with particular emphasis on cardiovascular autonomic disorders (eg. postural hypotension), a variety of neurological disorders (eg. Multiple System Atrophy (MSA) and Parkinson’s disease), and medical disorders involving the autonomic nervous system (eg. diabetes mellitus and familial amyloidosis).
There have been major advances in the relatively recently recognised disorder, the Postural Tachycardia Syndrome (PoTS) and the multi-organ and multi-system cluster with the joint hypermobility syndrome/Ehlers-Danlos Hypermobility. The clinical research output has earned the Neurovascular Medicine Unit and the Autonomic Unit recognition as unique centres for pioneering work in advancing the field of disorders of the autonomic nervous system. Funding is received from various competitive and charitable sources. His clinical research teams collaborate with a number of leading researchers and institutions nationally and worldwide, the latter to include leading centres in Europe (Bolgona and Innsbruck), Australia (Adelaide) and Asia (Tokyo, Hong Kong, and Bangalore).
Speech and Language Therapist
Angela Hunter has worked with EDS UK for many years as a Speech and Language Therapist and Trustee. Angela has also managed our Area Contacts but is now concentrating on working with the medical panel and will focus on research and raising awareness of the complications that can arise in speech, language and swallowing with EDS.
Anthony I Attwood, MBBS, FRCS(Ed), FFSEM (RCP&SI)
Consultant Plastic Surgeon
I am a consultant plastic surgeon of 30 years standing. I trained as a Medical Student at Guy's Hospital and once qualified worked within the Royal Air Force Medical Branch where I was first involved with Ehlers-Danlos Syndrome. I trained as a surgeon and then Plastic surgeon while in the Royal Air Force.
When I was senior registrar I expanded my interest and tried to find out more about how to look after the EDS skin problems while I was also getting experience in NHS hospitals. As a result we treated more and more patients with EDS as NHS patients in the RAF Hospital when I became Consultant and finally Consultant Advisor in Plastic Surgery to the Royal Air Force. I left the Royal Air Force in 1994, when the Service hospitals were closing, but I tried to keep my EDS interest going and provided information for my newly appointed consultant colleagues in the NHS. Although I am now solely working in private practice I am happy to see patients with EDS for consultation and advice free of charge. Unfortunately, if they then want me to treat them, the private hospital fees have to be paid for. I am always happy to provide information to local NHS consultants if the person has NHS treatment locally. I believe that the wider the knowledge of EDS among surgeons then the better the treatments will become and that is why I want to help on the EDS Medical Panel"
Dr Glenda Sobey
EDS National Diagnostic Team
Dr Sobey, joint founder of the EDS National Diagnostic Service leads the team in Sheffield. Through an approach of genetic counselling, clinical assessment and diagnostic testing, the team offer a modern diagnostic approach for EDS. The team value their close relationship with the EDS support group and look forward to working together in the best interests of patients and families with EDS.
Professor Francis Michael Pope
Professor Pope, who trained in Cardiff, London and the United States, has for many years worked on the Genetics of the Ehlers Danlos Syndrome, Osteogenesis Imperfecta, Pseudoxanthoma Elasticum, Cutis Laxa, Stickler Syndrome, the Marfan Syndrome and their overlaps, with Benign Hypermobility.
In 1976 along with various collaborators at the Johns Hopkins Hospital and the Nationsal Institutes of Health he was the first to discover and publish the cause of vascular Ehlers Danlos Syndrome , from type III collagen deficiency.
He was Head of the MRC Connective Tissue Genetics Group at Northwick Park Hospital, Addenbrookes Hospital and University Hospital of Wales, from 1976 to 2000 is now Consultant in Charge of the new NHS National Commissioning Group Complex EDS Service at the Kennedy Galton Centre, Northwick Park Hospital.
Professor Pope is especially interested in the classification, genetics and diagnosis of all of these disorders, many of which overlap with the Benign Hypermobilty Syndrome. His expertise lies in the differentiation, separation and testing of these disorders from BHS.
Professor Peter Beighton
Professor Peter Beighton was born in England in 1934 and qualified in medicine at St Mary’s Hospital, University of London in 1957.
After a series of internships, he served as a Medical Officer in the Parachute Regiment and with the United Nations forces during the Congo crisis. In 1962 he commenced training in internal medicine at St Thomas’ Hospital, London and in 1968-1969 he held a Research Fellowship in clinical genetics at the Johns Hopkins Hospital, Baltimore, USA. He subsequently undertook investigations in the Sahara Desert and epidemiologic studies on Easter Island and in Southern Africa.
He was appointed as Professor of Human Genetics in the Faculty of Medicine, University of Cape Town in 1972 and from 1983-1998 he was also Director of the MRC Unit for Medical Genetics. He is a Fellow and former Vice-President of the Royal Society of South Africa, and a former Chairman of the South African Human Genetics Society. Professor Beighton’s research has involved inherited disorders of the skeleton and connective tissues, together with genetic conditions which cause deafness, crippling and visual handicap.
In the early stages of his career, he received Fulbright and Oppenheimer Fellowships, and his contributions were subsequently recognised by the award of the gold medal of the British Orthopaedic Association, the President’s Medallion of the SA Orthopaedic Association, the Smith & Nephew literary award, and the silver medal of the SA Medical Research Council. He has also been accorded Fellowships of the University of Cape Town and the British Society of Rheumatology, and in 1999 he obtained the degree of Master of Philosophy in History at the University of Lancaster, UK. Professor Beighton retired with Emeritus status at the end of 1999, retaining his links with UCT, and collaborating with the University of the Western Cape Faculty of Dentistry. In 2002, he received the Order of Mapungubwe in Bronze, from President TM Mbeki for outstanding achievements in medical genetics. He was still active at UCT in 2012, with the additional status of Senior Scholar.
Fourteen of Emeritus Professor Beighton’s postgraduate students have been awarded Doctorates, and nine of these persons have achieved Professorial or Associate Professorial status. Professor Beighton is the author or co-author of 20 monographs and editions, 30 chapters and more than 400 medical publications and of course is the name behind the "Beighton Score".
Helen Cohen MB, BCh, MRCP, PhD
Consultant in Chronic Pain Medicine and Rheumatology
Helen Cohen is a Consultant in Rheumatology and Pain Management at the Royal National Orthopaedic Hospital, Stanmore, Middlesex, UK. She has a special interest in the management and treatment of chronic pain, and specifically in Complex Regional Pain Syndrome (CRPS) and hypermobility. Prior to this she worked as a Research Fellow and Consultant at The Royal National Hospital for Rheumatic Diseases, Bath, which has a reputation for research and expertise in complex rehabilitation and rheumatology. Together with Professor David Blake and Dr Candy McCabe, she led the Complex Regional Pain Syndrome Rehabilitation Programme.
One of Dr Cohen’s main research interests is in understanding how brain mechanisms contribute to severe chronic pain syndromes. She has worked with patients suffering from an extreme chronic pain syndrome, CRPS, and then looks for similar mechanisms in other pain conditions including hypermobility. It is then possible to focus on retraining the brain to improve how it processes body sense information, especially from nerves and muscles. These techniques are then used to improve rehabilitation. She has also investigated how the autonomic nervous system can contribute to pain using laser Doppler imaging and infrared thermography.
Her clinical interests include general rheumatology, hypermobility, fibromyalgia and CRPS among other chronic, difficult-to-explain pain syndromes. She aims to continue her research interests and hopes to extend some of these techniques, both investigative and therapeutic, to patients with hypermobility and other chronic pain conditions.
Dr Cohen held an Arthritis Research UK Clinical Fellowship for 3 years which supported her research work. She has presented nationally and internationally on brain mechanisms in chronic pain, and published articles in peer-reviewed journals.
Dr. Clair Francomano
Dr. Clair Francomano attended Yale College as an undergraduate and received her M.D. from Johns Hopkins University School of Medicine. She trained in Internal Medicine and Medical Genetics at Johns Hopkins and joined the full-time Hopkins faculty in 1984. In 1994 she became Chief of the Medical Genetics Branch at the National Human Genome Research Institute, National Institutes of Health, where she served as Clinical Director from 1996-2001. From 2001-2005 she was Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics, National Institute on Aging. Her research interests over the years have centered on Hereditary Disorders of Connective Tissue and Skeletal Dysplasias. She joined the Greater Baltimore Medical Center in 2005 as Director of Adult Genetics at the Harvey Institute of Human Genetics.
Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome throughout her career. During her years at the National Institutes of Health she spear-headed a longitudinal study on the natural history of EDS that ran for over 20 years. She is currently the Director of the Ehlers-Danlos National Foundation Center for Clinical Care and Research at the Harvey Institute of Human Genetics, Greater Baltimore Medical Center.