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.

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.

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.

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.

Dr Darius Ebrahimi-Fakhari is a physician-scientist and the objective of his research is to understand the genetic and molecular mechanisms of protein trafficking and the autophagy-lysosomal pathway in neurons, and to use this knowledge to develop novel therapeutic approaches to treat neurological diseases.

Dr. Ebrahimi-Fakhari’s research interests cover childhood-onset neurogenetic, neurodegenerative, and movement disorders. He leads a translational research program that aims to discover novel therapies for childhood-onset forms of hereditary spastic paraplegia and disorders related to the autophagy pathway. Current work covers gene discovery, natural history studies, disease modeling in iPSC-derived neurons and zebrafish, and high-throughput small molecule screens.

Professor Houlden runs a research group that are interested in ALL Neurogenetics. Seeing Hereditary Spastic Paraplegia patients is a main interest to Henry.

Scientific leadership

• 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

Research interests
Movement Disorders, Hereditary Spastic Paraplegia, Neurogenetics
Executive senior consultant and lecturer Dept. of Neurology at University Hospital of Essen, Germany

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.

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.

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.

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.

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.