Laura has been married for 30 years to Nick and together they have two children, Maria and Greg. They live by the sea at The Witterings on the south coast and enjoy the beach life all year round.
The family became involved with the charity after Maria was diagnosed with BBS at age 14 and they attended their first conference 11 years ago. Laura says they were amazed at the amount of support and information they received and the lifelong friends they made. As a family they were determined to ‘give something back’. The family have supported several fundraising events and ventures for BBS UK. Laura has been a trustee of the charity for several years and was treasurer for 4 years before taking on the role of vice-chair.
Professor Phil Beales
Professor Beales obtained his degree in Genetics and Medicine from University College London. He undertook postgraduate training in both general medicine and paediatrics before specialising in Clinical Genetics.
In 1999, he published the largest survey of BBS problems with the help of members of BBS UK (then LMBBS). This culminated in the identification of a number of new features not previously described in the medical literature and enabled Professor Beales to propose new diagnostic criteria, with the expressed purpose of enabling an earlier diagnosis for many more children.
In 1999, Professor Beales, with colleagues at Baylor College of Medicine in Houston discovered the first gene (BBS6) to cause BBS. Since then, at least 22 genes are now linked to the Syndrome.
Professor Beales is based at The Institute of Child Health/Great Ormond Street Hospital where he founded the Cilia Disorders Laboratory. Together with collaborators from Europe and North America, his group have made major advances in our understanding of the causes of the Syndrome. This includes the notion that abnormally functioning cilia (small finger-like appendages on cells) lies at the heart of BBS. The challenges that lie ahead involve understanding how dysfunctioning cilia contribute to various syndrome aspects. These discoveries have brought closer the goal of providing treatments to prevent further visual deterioration or weight gain for which Professor Beales is now fully committed.
Professor Beales has been medical advisor to Bardet-Biedl Syndrome UK since 1996, was made President of the Charity in 2005 and is a founder member of the recently formed BBS UK Scientific Advisory Board. In 2010, he established, with the support of BBS UK, National Multi-disciplinary clinics, with a comprehensive genetic testing platform for all persons with BBS in England and Scotland.
Dr Bob Haws
Dr Bob Haws received his undergraduate education at Brigham Young University followed by medical school training at the University of Utah School of Medicine in Salt Lake City, Utah. He completed residency training in Paediatrics at Dayton Children’s Hospital in Dayton, Ohio. He then completed a fellowship in paediatric nephrology at the University of Texas, Southwestern Medical School in Dallas, Texas. After completion of his medical training, Dr Haws was assigned to Wilford Hall Medical Centre in San Antonio, Texas. There he encountered his first patient, an unborn child, affected by Bardet-Biedl syndrome in 1993, nearly a decade before the first BBS gene was identified and six years before Professor Beales published his landmark paper establishing diagnostic criteria for BBS. That child, now an adult, is still his patient today and he has guided her through kidney transplantation and numerous other critical events in her life.
Over the last 28 years, Dr Haws has been actively involved in the care of hundreds of individuals with BBS. He has developed the Clinical Registry Investigating BBS (CRIBBS), a rare disease registry tracking the diverse health features of approximately 640 people in more than 40 countries. He has worked with colleagues at the Marshfield Clinic to establish the Centre of Excellence for BBS. The Centre blends the efforts of scientists, physicians, dentists, therapists, genetic counsellors, administrators and research coordinators.
Dr Haws has been married to his sweetheart, Kellie Stewart Haws, for 40 years. Together they are the parents of 9 children and 10 grandchildren. His family is his greatest joy and they have supported him in innumerable ways in his work in BBS.
Dr Jane Waite
Dr Jane Waite is a Lecturer in Psychology at Aston University and a Clinical Psychologist. Jane completed her PhD at the University of Birmingham, which focused on the behavioural and cognitive characteristics of Rubinstein-Taybi syndrome. Following her PhD, she continued her research into behaviour and cognition in rare genetic syndromes including Bardet-Biedl, Williams and Lowe syndromes.
Dr Waite’s current research focuses on understanding the development of mental health difficulties, and improving the identification of these difficulties, in people with rare genetic syndromes and people with learning disabilities. She is currently developing clinical assessment tools for use within the NHS. Dr Waite has also worked extensively on online resources (Further Inform Neurogenetic Disorders (FIND); www.findresources.co.uk) with the aim of improving knowledge exchange between families and professionals.
Several years ago the BBS community identified priorities for research in the areas of emotion, behaviour and thinking styles in BBS. In Dr Waite’s presentation this year she will update people with BBS and their families about the research project her team are now conducting to address these research priorities. The project is focusing on personal characteristics, mental health and well-being in people with Bardet-Biedl syndrome.
Sarah has worked at Great Ormond Street Hospital for over 20 years and covered a wide variety of clinical areas during this time. Sarah previously specialised in looking after children with kidney problems and in this role first saw children with BBS. Sarah has worked in the multi-disciplinary BBS clinics since they started in 2010 and continues to enjoy her role. Sarah has two children which have offered new insights into the challenges of providing a healthy, balanced diet in practice!
Tonia joined the BBS UK Board of Trustees in 1998 following her son’s BBS diagnosis and took on the role of Fundraising Co-ordinator and then Newsletter Editor. The family attended their first conference in the same year and were so grateful to the young people and adults with the syndrome for enabling them to picture a positive future. Having worked for Barclays Bank for 17 years, Tonia left in around 2002 to concentrate on her young family and the increasing demands of having a child with BBS.
Tonia commenced studies with the Open University in 2005 and graduated with a BSc (First Class Hons) in Social Sciences five years later. In 2009/2010, Tonia worked alongside the Charity and Professor Beales to develop the BBS UK clinics service provision. Tonia has been the service manager for BBS UK Clinics Ltd since 2017, before which she was children’s service manager.
Tonia has overseen the development of numerous events and activities, information booklets and resources for BBS UK, and leads the charity and clinics staff teams. She continues to study with the Open University and is currently half-way through a Masters (Open). Tonia makes the most of living by the sea, with regular coastal runs and long walks with her husband, Rob and their two dogs.
Liz Loughery joined BBS UK in April 2020 to fulfil the role of Office Manager. Prior to this she worked for Alström Syndrome UK, firstly in an Office Management capacity and latterly as a Project Manager for their Patient Registry. Before working for charities, Liz worked in Bid and Project Management roles for private sector organisations for over 15 years.
Liz was thrilled to be offered the opportunity to join BBS UK and is hoping she can meet, face to face, some of the people she has had the pleasure of getting to know during her first year with the Charity.
Hello, my name is Helen Stirland. I am 54 and I have Bardet-Biedl syndrome. This was officially diagnosed in 2011 when I was 45 years old although I had received an unofficial diagnosis of what was thought to be LMBBS in the late 1980s. Following this unofficial diagnosis, I never received any further treatment, advice or support. In 2010 my family directed me to a BBS UK support group which they had discovered on an internet search. I then attended my first clinic in January 2011 in Birmingham where I received the official BBS diagnosis. Attendance at this first clinic and all support came from the BBS support network. I have been an active member of the support group ever since.
I finished work in 2017 and since then have become involved in many community groups. I am on the Board of Trustees for The Friends of The Doncaster Museum and represent them as the Disability officer on the Council Advisory Panel. Until recently I actively participated in the French game Pétanque at a regional/national level. I remain active now as a social member. I really enjoy the talking book schemes that are available, and I have a very active social life with friends and enjoy attending theatre shows and going on trips.
My name is Gareth Owens and together with my wife Liz I am the parent of William, age six, who has Bardet-Biedl syndrome. I work as Director of Business Development for a global law firm, and we live in Clapham in South London. I first became involved with the excellent BBS UK when William was diagnosed four years ago, and we attended our first clinic at Great Ormond Street Hospital.
Partly due to the support of BBS UK, William is doing really well – he loves the tube, PJ Masks, cooking, and recently learned to ride his bike. I am looking forward to giving a personal perspective on the health and education systems at the conference because, as I’m sure is the same for all BBS parents, we have had mixed experiences of both and I think there is a lot we can achieve by working with the professionals in each field.
My name is Tanja Chaudhry and I’m a parent of someone with Bardet-Biedl Syndrome. I am 35 years old, happily married and a mum of 3 beautiful children. My youngest daughter was diagnosed with BBS when she was only a few months old. This is how our BBS journey began.
Stefan has been involved with BBS UK since 2004, first as a Stefan has been involved with BBS UK since 2004, first as a fundraiser, volunteer and trustee before taking up the post of Vice-Chair in 2017 and Chair in 2019. Stefan graduated from the University of Portsmouth with a degree in Politics. During his time as a member of the Board, Stefan has enjoyed supporting the development of events, raising awareness of BBS and networking for the charity. Stefan has recently been accepted onto the Sight Loss Council for Bedfordshire.
Stefan is a strong advocate for independent travel and regularly uses the bus, taxi and train, making use of apps and techniques to do so. Before Covid-19, Stefan enjoyed an active social life, including going to the gym, playing visually impaired tennis and walking. He also enjoyed going to concerts, theatre, travelling and visiting friends and is looking forward to resuming these activities in the hopefully near future.
Dr Emma McGibbon
Dr Emma McGibbon BSc (Hons), Clin.Psy,D PGDip is a chartered Clinical Psychologist with the Health and Care Professions Council (HCPC) and a member of the Association of Clinical Psychologists UK. She was awarded a BSc (First Class Hons) in Psychology from the University of Glasgow before completing her Doctorate in Clinical Psychology at University of East London in 2008, and Post-Graduate Diploma in Paediatric Clinical Neuropsychology at University College London in 2018.
Emma has worked in children’s services since qualification as a Clinical Psychologist, in community settings, as well as in specialist and national centres. She is employed as a Principal Clinical Psychologist in the neurodisability service at Great Ormond Street Children’s Hospital NHS Trust where she has worked since 2010.
Emma specialises in work with neurodevelopmental differences, including intellectual disabilities, sensory impairments, cerebral palsy, autism spectrum disorder, ADHD and associated difficulties with emotional wellbeing, behaviour and learning. Emma is the lead psychologist in the Bardet-Biedl Syndrome (BBS) clinic at Great Ormond Street Children’s Hospital, where she provides regular reviews of children and considers their developmental and emotional needs. Service developments are currently underway in order to make improvements in how these needs are identified and addressed. She is also the psychologist in the adult BBS clinic at St Thomas’ Hospital within the Rare Disease Centre and therefore has an understanding and expertise in how medical conditions can impact people across the whole lifespan.
Dr Anne Marie Walker
Dr Anne Marie Walker (Clin.Psy.D., M.A.) is a Chartered Clinical Psychologist with the Health and Care Professions Council (HCPC). She gained her original degrees from University College Dublin (U.C.D., Belfield), before moving to the UK to work as an Assistant Psychologist and going on to complete her Doctorate in Clinical Psychology at the University of Birmingham.
Since qualifying she has worked as a Clinical Psychologist in the West Midlands for over 25 years. She has worked in many roles in both community and hospital settings, including Child and Adolescent Mental Health Services (CAMHS), developing services, supervising other health professionals, running groups, teaching and providing consultation.
Anne Marie has been employed as a Clinical Psychologist at the QEH Birmingham since August 2015 and has been with the Pain Management team and the Inherited Metabolic Disorders team during this time. She has had the pleasure of been the lead Psychologist for the clinic at the QEH Birmingham for 5 years.
Professor Timothy Barrett
Tim Barrett trained in London, Exeter and Birmingham and did his PhD in genetics of rare diabetes syndromes. He works half the time as a paediatric endocrinologist in Birmingham Children's Hospital and leads the rare diabetes services including the Bardet-Biedl service. The other half of his time he spends leading a laboratory research team studying the genetics of rare diabetes syndromes and leading a clinical team undertaking clinical trials in children with diabetes. In 2010 he successfully gained a European grant to set up an international register for Wolfram, Alström and Bardet Biedl syndromes.
Dr Shehla Mohammed MD, FRCP
Dr Mohammed obtained her degree in Medicine from Pakistan and has subsequently worked in the NHS for 34 years, training in paediatrics before specialising in Clinical Genetics. She was an ICRF Research Fellow in Cancer Genetics prior to taking up a Consultant post at Guy’s Hospital.
Dr Mohammed has a longstanding interest and experience predominantly in rare genetic disorders and in the care of children and families with life-limiting disorders. She has been involved in setting up and running the National BBS clinic for adults with Professor Phil Beales since its inception in 2010 and oversaw the move of the service to its new home in the Rare Disease Centre (RDC) at St Thomas’ in 2018. Dr Mohammed is also involved in the running of other highly specialist services at the RDC.
Until 2017, Dr Mohammed had been Head of Service of the Guy’s Regional Genetics Service for 20 years. She represents the genetics speciality on local, regional and national committees (member of highly specialist committee of NICE) working on national policy developments and research. Other interests include travelling, photography, gardening, being a mature student of the cello and a recent convert to kick boxing! Dr Shehla Mohammed has been recently co-opted onto the BBS UK Board of Trustees.
Dr Elizabeth Forsythe
Dr Elizabeth Forsythe has degrees in molecular medical sciences and medicine from Queen Mary University of London. She trained in adult medicine and paediatrics before specialising in clinical genetics at Northwick Park Hospital and Great Ormond Street Hospital, where she is currently a registrar.
Dr Forsythe has over ten years research and clinical experience in Bardet-Biedl syndrome and has been involved in the BBS Clinics in London since their inception in 2010. Her PhD in Bardet-Biedl syndrome was supported by the Medical Research Council and the Great Ormond Street Hospital Children’s charity. In addition to her clinical work Dr Forsythe is a passionate advocate for patient engagement and sits on the board of the Ciliopathy Alliance UK as well as BBS UK Scientific Advisory Board.
Dr Professor Helen May-Simera
Dr Prof. Helen May-Simera leads a research team studying the role of BBS proteins in the cell. Her teamwork at the Institute of Molecular Physiology, Johannes Gutenberg University of Mainz, Germany. She studied biochemistry at the University of Bath. After completing her master’s degree in 2003, she was a doctoral student at University College London, where she obtained her doctorate in 2008 working on the mutational and functional analyses of Bardet-Biedl syndrome. It was during her graduate work that she uncovered the association between cilia and WNT signalling, defects of which led to auditory defects in ciliopathy mouse models.
To further these investigations, she moved to the USA to conduct research as a postdoctoral fellow at the National Institute of Health in Bethesda, initially at the National Institute on Deafness and Communication Disorders. Here she continued research into the role of cilia in developmental processes with an emphasis on regulating signalling pathways. Since the vertebrate eye contains many ciliated cell types, and the main clinical feature of ciliopathy patients is retinal degeneration, she decided to focus on the role of the primary cilium in the vertebrate eye. Therefore, she moved to the National Eye Institute, at the National Institute of Health for her second postdoc. In 2014 she was awarded the prestigious Sofia Kovalevskaja award by the Alexander from Humboldt foundation, allowing her to continue her research at the University of Mainz.
Hannah Rowlatt is a Technology for Life Co-ordinator at the Royal National Institute for the Blind (RNIB) and will be joining the conference on Saturday to talk about assistive technology for people with sight loss and how it can help improve independence and access to information and opportunities. In an increasingly digital world using technology and developing digital skills is becoming an essential part of life – in recognition of this Hannah will share her advice and guidance and will be available to take questions whether you are just starting out or would like more in depth help.
Born in London, many more years ago than she cares to remember, Christine was educated in primary schools in Africa, Australia and the UK. After schooling she studied Hotel and Catering at Ealing Hotel School then worked in catering management for several years until she tried her hand in kitchenware retail at Heal’s, Tottenham Court Road. Cooking, eating out and staying in amazing hotels is still a passion. Married in 1975 to Chris, a Customs Officer, they moved around with his job. She was a Civil Servant for DoE finally leaving as a Jobcentre Manager in Immingham, Humberside.
After the Civil Service Christine began to work in fundraising and development in the not-for-profit sector, starting with NSPCC for many years in the East and North of England, moving to Linkage and Autism East Midlands, finally retiring in late 2017. They moved to Northamptonshire, downsizing and to be nearer to their two small grandchildren that year.
After a grown-up gap year in 2018 travelling to many parts of the world, and realising she still had a lot to give, Christine began to work with BBS UK. As fundraising officer, Christine thoroughly enjoys spreading the word about the amazing people connected with our charity.
My name is Catharine Auty, I am 34 years old, and I was officially diagnosed with Bardet-Biedl syndrome in March 2017. I initially trained as a Nursery Nurse but as my sight deteriorated, I changed career and I now work full time as an Administrator at a Law Firm in Leeds. I have volunteered as an Assistant Brownie and then Guide Leader for the last eighteen years and highlights have included voluntary work in India, Honduras and Morocco.
More recently I have started to volunteer with the RNIB within the Yorkshire and the Humber Area. It is early days yet but I am looking forward to the challenge. In my spare time I love singing and am a member of three choirs. We do regular recordings and have even done some at the famous Abbey Road Studios which was really exciting. I also like spending time with my family and friends. I am looking forward to seeing all my BBS friends virtually at this year’s conference and hope my talk will encourage others with BBS to go travelling and have their own adventures.