Advisory Board (EAB)
The LYSOCIL External Advisory Board (EAB) is composed by renowned international experts whose knowledge and scientific feedback enhances the synergies with relevant initiatives and stakeholders. The EAB also provides guidance to the project, maximizing the dissemination and impact of the LYSOCIL outcomes. The main responsibilities of the EAB are:
• To advise on the overall strategy and development of the project;
• To advise on the analyses and potential exploitation of the project's results;
• To enhance the project’s impact through the involvement in dissemination and outreach activities.
The EAB is composed by:
Claire Hogg from the Royal Brompton and Harefield NHS (United Kingdom)
Dr. Claire Hogg is a paediatric respiratory consultant based at Royal Brompton Hospital, as well as co-director for children's services. She is also an honorary senior lecturer at the Imperial College School of Medicine. Her areas of expertise include:
• Paediatric respiratory medicine;
• Primary ciliary dyskinesia (PCD);
• Other chronic suppurative lung diseases.
Frances Platt from the University of Oxford (United Kingdom)
Professor Frances Platt is a Professor of Biochemistry and Pharmacology at the University of Oxford. A major focus of her work has been on the development of substrate reduction therapy (SRT) to treat several lysosomal storage disorders. Her areas of expertise include:
• Lysosomal storage disorders, pathogenesis and therapy;
• The effects of lysosomal storage on the immune system;
• Development of biomarkers for monitoring storage disease patients;
• Lysosomal dysfunction in more common diseases;
Gregory Pazour from the University of Massachusetts (USA)
The goal of Professor Gregory Pazour’s research is to understand the function of the primary cilium in mammalian development and the etiology of disease. Severe ciliary defects in humans and mice lead to embryonic lethality, likely due to cardiac abnormalities, while less severe ciliary defects cause developmental and degenerative diseases in nearly every organ system. In humans, this leads to a variety of syndromic diseases whose symptoms include cystic kidney disease, retinal degeneration, skeletal abnormalities, obesity and mental retardation along with fibrosis and degeneration in the liver and pancreas. Professor Pazour has a broad background in the biology of the cilium and the analysis of mouse mutations with defects in cilia. His postdoctoral work focused on the function and assembly mechanisms of Chlamydomonas cilia. Since becoming an independent investigator, his group has transitioned to mouse and mammalian cell culture to study cilia. His areas of expertise include:
• Primary cilia syndromic diseases;
• Intraflagellar transport;
• Polycystic kidney disease;
• Cilia biogenesis;
• Mouse models of disease.
Miriam Schmidts from Freiburg University Hospital (Germany)
Dr. Miriam Schmidts is a Clinical Fellow, at the Center for Paediatrics and Adolescent Medicine, University Freiburg Medical Center.
Her areas of expertise include:
• Ciliopathy genetics and therapeutics, including renal disease, Primary Ciliary Dyskenesia, and ciliary chondrodysplasias such as Jeune Syndrome and short-rib polydactyly syndromes;
• Study of the underlying molecular defects and high-throughput substance screening for the identification of new pharmacological targets, through genetic technologies, zebrafish and mouse model systems;
• Gene discovery: the genetic basis of rare diseases with main focus on motile and non-motile ciliopathies, neurodevelopmental disorders and inherited renal diseases;
• Elucidating the molecular mechanisms underlying rare diseases using gene editing approaches in vitro and in vivo.
Paul Luzio from the University of Cambridge (United Kingdom)
Professor Paul Luzio is Emeritus Professor of Molecular Membrane Biology at the University of Cambridge. His research is dedicated to membrane traffic in the late endocytic pathway. The goal of his research is to understand the coordination of fusion and fission events in the lysosome regeneration cycle linking endolysosomes and terminal storage lysosomes, as well as the disruption of this cycle that occurs in some diseases. His areas of expertise include:
• Membrane traffic in the late endocytic pathway;
• Lysosome biology.
Raríssimas is a Portuguese Association of Mental and Rare Disabilities and it was the first association to create a help line in Portugal – Linha Rara – to support RD patients and families. The goals of Raríssimas are:
• To promote the dissemination and information on rare diseases;
• To promote the integrated management of patients with rare diseases;
• To promote positive differentiation in the diagnosis, referral, treatment and monitoring of patients with rare diseases;
• To promote knowledge and the acquisition of skills in the area of rare diseases.