Frances is a clinical geneticist working at Guy’s Hospital. Initially she trained in Paediatrics, but meeting some families affected by Alport syndrome in 1983 led to a period of genetics research studying the way that Alport’s affects people, and also mapping the gene for X-linked Alport syndrome. Frances decided to become a geneticist was appointed a consultant in 1994. Her early interest in Alport syndrome has continued, and she has enjoyed fruitful collaborations with experts from all over the world. The DNA laboratory at Guy’s (supported by a grant from Kidney Research UK, with money raised by a patient) now provides a national and international service screening for mutations in Alport genes. Frances has met around 500 families who are affected and really appreciates the support that patients receive from contact with Alport UK.

Professor Daniel Gale runs the North/Central Thames Renal Genetics Service which is based at the Royal Free Hospital in London and provides care for families with inherited kidney problems, including polycystic kidney disease and Alport syndrome, unexplained familial kidney failure, complement disorders and other genetic conditions. Patients are frequently offered enrolment in clinical research studies, including those involving new treatments.

He conducts research and discovered the diseases, and genes responsible for HIF2α erythrocytosis and pulmonary hypertension, which results from a defect in cellular oxygen sensing, and CFHR5 nephropathy, which results from a defect of complement alternative pathway regulation and which is endemic in people of Cypriot ancestry. He also studies genetic factors important in other kidney diseases and, using genome wide association studies, has identified the genes important in a range of more commoner kidney diseases, including IgA nephropathy and Steroid Sensitive Nephrotic Syndrome.

Ongoing projects aim firstly to improve understanding of the precise biological mechanisms underlying kidney diseases and secondly to develop rational approaches to their treatment. He chairs the Renal Association Rare Diseases Committee and leads the UK-wide consortium that aims to interpret genomic data from the thousands of people with kidney disease participating in the 100,000 Genomes Project.

Susie’s passion is using her experience in international business to facilitate the innovative patient/clinical/academic science/industry international collaboration that is creating a brighter future for those living with Alport Syndrome. Susie’s 26 years in international business started in the design and communications industry following her BA Hons in Typography & Graphic Communication at Reading University. With a move into management consultancy and 12 years at Accenture plc, she then spent 2 years in the Cabinet Office as Director of Change for the Civil Service. Susie now has a portfolio of roles that include consulting projects for multinational businesses and government; contributing to executive education programmes and workshops at Oxford Universities’ Said Business School; advisory work for the Institute for Government; an NHS board role as patient advocate on NHS England’s Rare Diseases Advisory Group and most importantly the very enjoyable role of ‘Organiser’ for Alport UK’s vital Information Days but also for the series of International Workshops on Alport Syndrome. Susie’s mother was diagnosed with Alport Syndrome over 40 years ago and it impacts many members of the family.

Amanda McLean qualified as a pharmacist in 1984 and has worked as a hospital pharmacist, specialising in quality, risk and governance for the NHS in Edinburgh since 1994. Prior to that she worked as a research pharmacist in Dundee, gaining an MPhil in pharmaceutical science, and as a QA pharmacist in Peterborough.

In her current role she provides assurance to pharmacy management that the service is safe and effective and complies with regulatory and statutory requirements. She has an active interest in pharmacy research and in supporting others undertaking research . She has a personal interest in Alport syndrome, with herself and her son both recently diagnosed, and she wishes to support Alport UK in their effort to raise awareness, drive research and support patients and their families.

Alice has a BA Hons in hotel and catering and then ended up in estate agency for 10 years. Her final role was for Knight Frank which she left to run her own personal assistant business before starting a family. Alice has also spent a lot of time ‘camping rough under canvas’ doing her Bronze, Silver, Gold and Expedition Leader awards for Duke of Edinburgh. Now her girls are older, she is keen to give something back and volunteers for a number of different charities. Alport UK is particularly close to her heart as she has family links with one of the co-founders that go back a long way. She describes herself as one of the back room team who does research, updating procedures, keeping people informed on Facebook, lots of fundraising initiatives and above all supports the two co-founders and families far and wide

Professor Daniel Gale runs the North/Central Thames Renal Genetics Service which is based at the Royal Free Hospital in London and provides care for families with inherited kidney problems, including polycystic kidney disease and Alport syndrome, unexplained familial kidney failure, complement disorders and other genetic conditions. Patients are frequently offered enrolment in clinical research studies, including those involving new treatments.

He conducts research and discovered the diseases, and genes responsible for HIF2α erythrocytosis and pulmonary hypertension, which results from a defect in cellular oxygen sensing, and CFHR5 nephropathy, which results from a defect of complement alternative pathway regulation and which is endemic in people of Cypriot ancestry. He also studies genetic factors important in other kidney diseases and, using genome wide association studies, has identified the genes important in a range of more commoner kidney diseases, including IgA nephropathy and Steroid Sensitive Nephrotic Syndrome.

Ongoing projects aim firstly to improve understanding of the precise biological mechanisms underlying kidney diseases and secondly to develop rational approaches to their treatment. He chairs the Renal Association Rare Diseases Committee and leads the UK-wide consortium that aims to interpret genomic data from the thousands of people with kidney disease participating in the 100,000 Genomes Project.

Rachel graduated from Nottingam University Medical School in 1994. She trained in clinical paediatrics in Nottingham, London and the South Western Deanery and she completed subspecialty training in Paediatric Nephrology in Bristol. She was awarded a Wellcome Trust Research Training Fellowship in 2004 and completed her PhD studying circulating mediators of podocyte injury in proteinuric states in 2007. She was appointed to an Academic Clinical Lecturership in 2007. In 2010 Rachel was awarded a Stepping Stones Fellowship from the University of Manchester and a Wellcome Trust Intermediate Clinical Fellowship to establish her research group and to continue her research focussed on understanding mechanisms of glomerular disease. Specifically she aims to understand how the glomerular filtration barrier is formed, maintained during life and altered in disease with a particular focus on cell adhesion and extracellular matrix in the glomerulus.

Neil Turner has been Professor of Nephrology at the University of Edinburgh since 1998.  After broad experience of general medicine in several English regions he worked in renal units in Oxford, Hammersmith and Aberdeen before moving to Edinburgh. His first research was on autoimmunity and basement membrane biochemistry, more recently proteinuria. Now his major research and clinical interests are in genetic kidney diseases, especially Alport Syndrome and others affecting the glomerular basement membrane, and in paediatric-adult transition.

From a number of educational and information projects, in 2004 he became involved in the initiation and steering of the PatientView project, which gives patients online access to live test results and information about their conditions and treatments. In the UK renal rare diseases initiative he leads the Alport group and is also involved in the Polycystic, Fabry, and STEC-HUS groups.

He is Undergraduate Teaching Dean for the College of Medicine and Veterinary Medicine at the University of Edinburgh. In 2011 he founded an online postgraduate Masters course in Internal Medicine in collaboration with the Royal College of Physicians of Edinburgh, He developed a new route to becoming a doctor for existing healthcare practitioners, commencing 2020, which has a large part-time, remote online component. He

He has worked with the the UK Renal Association and the International Society of Nephrology on educational and online initiatives, and contributed to Scottish Government-funded projects in healthcare education in Malawi and more widely. He is Editor in Chief of the 4^th edition of the Oxford Textbook of Clinical Nephrology.

Wilma has an N.C. and an HNC in Childcare and Education and has 16 years of experience in working with children. She is currently the Senior Practitioner in the 0-2 year old room of a Private Nurser.

Wilma has a long term connection with Alports, since herself, two brothers, son and daughter all have this Alport Syndrome. When looking for information and support Wilma searched online and found links which led her to finding and making contact with Alport UK. This culminated in Wilma and her family going along to the Edinburgh Information day and finally meeting Susie and Jules. This proved to be a most valuable experience since they had never met or talked with other people (apart from their own family) in a similar position as themselves. It quickly became evident that a support network would be very beneficial. From here, ‘Alports Warriors’ facebook page was born and now Wilma is one of the administrators.

Wilma’s passion for Alport UK is reflected in the many events she organises to raise funds for the charity. She tirelessly researches different methods of fundraising and establishes links with companies and businesses to promote the charity and hopefully potential sponsorship.