Speakers
Ranganath Lakshminarayan
Nicolas T Sireau
James A Gallagher
Plenary
Room: Elizabeth Room
The National Alkaptonuria Centre (NAC) has transformed the healthcare of Alkaptonuria (AKU) patients. Performance indicators show slowing disease progression, improved quality of life, and reversal of disease process. The NAC has fostered successful nitisinone clinical trials in AKU leading to regulatory approval for the first disease-modifying therapy in 2020 impacting around 800 patients in the UK and Europe.
Professor Lakshminarayan Ranganath (LRR) trained in Chemical Pathology with Professor Vincent Marks and Drs John Wright and Peter Goddard in SW Thames before moving to Liverpool in 1999. LRR obtained his PhD in obesity biology and GLP-1 as a trainee, while also managing a busy endocrine/metabolic investigation unit in Surrey. LRR is now a part-time consultant at the Liverpool University Hospitals Foundation NHS Trust in the UK since 2017. Until 2017, he was a busy Chemical Pathologist working with Professor Alan Shenkin and others managing patients in the lipidology and metabolic bone clinics as well as being part of the team providing a metabolic service. LRR met an alkaptonuria (AKU) patient called Robert Gregory in 2003 and founded the Alkaptonuria Society UK. Since 2003, he has worked on advancing knowledge in AKU in addition to providing the busy service role. LRR established the NHS Highly Specialised Services funded Robert Gregory National Alkaptonuria Centre (NAC), employing off-label use of nitisinone, bringing together a multidisciplinary team of specialists to deliver a single-stop care at annual review for AKU patients in the UK. LRR is the inaugural Director of the NAC. Patients in the NAC have been able to access nitisinone free of charge since 2012. LRR has carried out a national survey that identified 81 UK, 450 European and 1000 patients worldwide. He has pioneered an assessment of AKU patients namely the alkaptonuria severity score index (AKUSSI). LRR was the chief investigator who co-ordinated DevelopAKUre, a European Union-funded international research programme, which involved 3 studies in AKU, including a 4-year randomised nitisinone clinical trial, called SONIA 2, in adults with alkaptonuria. This has bringing advances in AKU to all patients with AKU worldwide. LRR has authored over 200 peer-reviewed publications and supported numerous research students (PhD and MD) into AKU. He now continues to work in AKU and has recently embarked on collaborating with scientists from the Liverpool School of Tropical Medicine in developing nitisinone as vectoricidal drugs in the control of malaria, trypanosomiasis, leishmaniasis and others.
Nick Sireau, PhD, is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU, a rare genetic disease affecting two of his children. The AKU Society and Nick are the winners of the 2021 Members Award by EURORDIS (the European Organisation of Rare Diseases) because of their work on successfully developing a new treatment for AKU. Nick is co-founder and Chair of Beacon, an organisation that helps all rare disease patient groups. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf 2013) and of the 'Patient Group Handbook: A Practical Guide for Research and Drug Development' (Beacon 2016). Nick is co-founder and Chair of Orchard OCD, a medical charity that funds research into obsessive-compulsive disorder (OCD), a common yet debilitating mental health condition. He is also co-founder of Sirgartan Therapeutics, a biotech that focuses on new treatments for OCD. Nick has a BA from Oxford University, an MSc in management studies from the Lyon Graduate School of Business and a PhD in social psychology from City University. He is a fellow of the Ashoka Fellowship of Social Entrepreneurs.
Jim Gallagher is an Emeritus Professor at the University of Liverpool. He held the Derby Chair of Anatomy and Cell Biology at Liverpool from 2007-2020 and is a Past-President of the Bone Research Society, UK and a Fellow of the American Society for Bone and Mineral Research. Jim undertook his PhD in Cambridge, on the function of vitamin D in bone. Following a post-doctoral fellowship in Bern working on bisphosphonates, Jim returned to the UK to Graham Russell’s lab, where he developed the first system to culture human osteoblasts with Jon Beresford. His group in Liverpool cloned the human P2Y2 receptor and pioneered the investigation of purinergic signalling in bone and skin. Jim has supervised over 40 PhD students, several of whom hold academic positions at UK and international universities including 2 chairs. In recent years, he has worked with Lakshminarayan Ranganath on the mechanism of arthropathy in the rare genetic disease alkaptonuria and they have identified an effective therapeutic agent, nitisinone, which was approved by the EMA in 2020. Morphological studies on the severe osteoarticular phenotype in alkaptonuria, in collaboration with Alan Boyde, have revealed new mechanisms of joint destruction that are also observed in more common osteoarthritis. Jim collaborated with DaisyBeck Productions on the acclaimed Channel 5 documentary “Body Donors”, which won a Royal Television Society Award.