Chair of Translational Neuroscience, ERC Advanced Investigator, Director of Research and Innovation - University of Sheffield Department of Neuroscience.
Professor Azzouz has a long standing interest in developing gene therapy approaches for neurodegenerative diseases His research focuses on new therapeutic strategies for monogenic neuromuscular disorders and other motor neuron diseases.
Doctor Jennifer Hirst
Principal Research Associate, Robinson Labs, Cambridge Institute for Medical Research
Jenny is a cell biologist who had previously discovered the AP4 and AP5 adaptor complexes and has been studying their function and link with Hereditary Spastic Paraplegia.
Professor Giovanni Stevanin
Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute), Paris
Giovanni Stevanin is Professor of Neurogenetics at the EPHE/PSL Research University and Research Director at the Institut du Cerveau et de la Moelle Epinière (Brain and Spine Institute, Paris, France). He (and his students) identified 10 genes leading to hereditary spastic paraplegias, among them SPG11 and SPG15. He is co-coordinating the international network on these diseases, SPATAX, and develops projects towards therapeutic approaches on them.
Dr Andrew Grierson
Sheffield Institute for Translational Neuroscience University of Sheffield, UK
I am a principal investigator based at the University of Sheffield. In my lab we are interested in identifying mechanisms underlying neurodegenerative disease and designing therapies that target these mechanisms. We use cell and neuronal cultures as well as zebrafish and mouse in vivo models. In relation to HSP research, we developed a mutant spastin mouse model that develops a progressive spastic gait associated with defective axonal transport and hallmark axonal swelling pathology. Zebrafish are an ideal model to generate stable genetic models of rare human disease, including HSP. We have recently developed a zebrafish HSP model carrying a spastin mutation that develops a motor phenotype.
Professor John Fink
Professor in the Department of Neurology and Director of Neurogentic Disorders Program at the University of Michigan.
Professor Fink is committed to finding the causes and developing treatments for Hereditary Spastic Paraplegias. John is the one of the world leaders in HSP.
Dr Craig Blackstone
Senior Investigator, Cell biology section at the National Institute of Neurological disorders and strokes.
Dr Blackstone’s laboratory investigates the cellular and molecular mechanisms underlying hereditary movement disorders. Craig is one of the most prominent HSP researchers in the world.
Dr Evan Reid
Medical Genetics and Principal Investigator, Cambridge Institute of medical research
Dr Reid’s Lab studies are focusing on understanding the molecular pathology of the hereditary Spastic Paraplegias.
Professor Henry Houlden
Professor of Neurology, Faculty of Brain sciences, National Hospital of Neurology, Queens Square, London
Professor Houlden runs a research group that are interested in ALL Neurogenetics. Seeing Hereditary Spastic Paraplegia patients is a main interest to Henry.
Professor Jürgen Winkler, M.D
(Professor of Neurology and Head) University Hospital Erlangen, Germany
- Bavarian Research Network “Induced Pluripotent Stem Cells (For IPS)”, Speaker
- Speaker of the Department of Neurosciences, University Hospital Erlangen
- Scientific advisor for the German Bundestag with focus on stem cell technology
Main focus of research
- Clinical Neurosciences
- Head of Movement Disorder Center (i.e. Parkinson disease, Huntington disease, hereditary spastic paraplegia)
- Neurogenetics or rare neurological
Professor Dr Stephan Klebe
University Hospital Essen, Germany
Movement Disorders, Hereditary Spastic Paraplegia, Neurogenetics
Executive senior consultant and lecturer Dept. of Neurology at University Hospital of Essen, Germany
Dr. Thomas Bourinaris MD MSc
University College London Hospital, UK
In 2017, I joined the team at the UCL Institute of Neurology, Queen Square in London and started a PhD clinical research fellowship under the supervision of Professors Houlden and Hardy. My main research interests include the genetics and pathophysiology of hereditary spastic paraplegias, Parkinson’s disease and other movement disorders. For my research purposes, I’m planning to employ a combination of clinical and research data, including analysing results of genetic studies, such as whole exome and genome sequencing data, as well as functional studies and experimental models.
Dr Channa Hewamadduma
Consultant Neurologist and Senior Lecturer at Sheffield University
Dr Channa Hewamadduma is dedicated to improving the trial-readiness of HSP patients. His team is in investigation for biomarkers and molecular causes of HSP. He runs a regional HSP clinic at the Royal Hallamshire Hospital, Sheffield’s Teaching Hospital’s Trust.
University Hospital Würzburg, Germany
Dept of Neurology, Developmental Neurobiology (Head: Prof. Dr. Rudolf Martini), University Hospital Würzburg.
Since Aug’ 2018 Doctoral student in the laboratory of Prof. Dr. Rudolf Martini in Neuroscience, Developmental Neurobiology, Department of Neurology.
Research interests – Secondary neuroinflammation as disease amplifier in genetically-mediated diseases of the central and peripheral nervous system.
Founder, CEO & Maddi’s Mum
I am proud to be Maddi’s mum and I set up The Maddi Foundation after Maddi was diagnosed with SPG15.
There is no other charity out there funding research for a cure into Spastic Paraplegia Gene 15. I realised that our only hope was to start one ourselves to help raise the profile and awareness into this rare disease.
I gave up working in the florist industry to set up The Maddi Foundation with my other daughter Alexandra.
Co Founder, Trustee & Maddi’s sister
Alex, Maddi’s sister, is Co Founder of the charity and has worked hard alongside her mum in fundraising and campaigning since Maddi was diagnosed with SPG15. Having supported Maddi through the toughest of times since her diagnosis, Alex is keen to raise awareness of the Maddi Foundation to help both her sister and all others that suffer with Spastic Paraplegia types. Alex works within the business advisory and insolvency industry.
The Maddi Foundation means a lot to me as my son grew up with Maddi and I was so shocked when she was diagnosed with such a rare disease that had no answers or no cure. After seeing the impact it had on Maddis family, I wanted to help them raise awareness and fundraise into research for a cure for SPG15. I was delighted to be asked to join the team in a fundraising support role and feel honoured to be part of the special charity.
Trustee & Maddi’s Brother
Harry – Maddi’s brother who decided to become a Trustee for The Maddi Foundation having watched his little sister go through a very tough time with the disease. I have been involved in raising awareness and fundraising since she was diagnosed.
I am the director of an electrical company based in Essex, UK.
Glen Murphy MBE
Glen – is an English actor, producer and sports therapist. Best known for his role as firefighter George Green in Londons Burning. He was awarded an MBE in 2007 for his charity work and also qualified as a sports therapist in 2014, he has clinics based in Essex and Italy.
Having knowing Maddi and her family for quite sometime he has watched the progression in the disease and was inspired by Maddi’s courage and determination of fighting SPG15 he felt privileged to be asked to come on board as a trustee.
Every penny counts. Your generosity will fund vital research and treatment efforts in the hope of not only stopping progression of SPG15 but also finding a cure. This will open the doors hopefully to help other similar orphan diseases. Donate to be part of a cure.