LSD

His research activity has been mainly focused on inborn errors of metabolism, including sulfatatase deficiencies (X-linked ichthyosis, due to steroid sulfatase deficiency; X-linked recessive chondrodysplasia punctata, due to arylsulfatase E deficiency), defects of cholesterol biosynthesis, and lysosomal storage diseases (Pompe disease, Gaucher disease, multiple sulfatase deficiency, galactosialidosis). He is currently working on the development of novel therapeutic approaches for lysosomal storage diseases (pharmacological chaperone therapy, modulation of cellular pathways).

He is currently Associate Professor at the Department of Translational Medical Sciences, Federico II University, Naples and Associate Investigator TIGEM (Telethon Institute of Genetics and Medicine), Pozzuoli.

Ans van der Ploeg is leader of the rare disease profiling area at Erasmus MC – Sophia Children’s Hospital. She is the NFU representative at Erasmus MC for the centers of rare diseases. She is vice-coordinator of the European Pompe Consortium (EPOC), MetabERN and coordinator of the LSD subnetwork of MetabERN. She is member of several scientific advisory boards, member of the council of the Society of the Study Group of Inborn Errors of Metabolism (SSIEM). She was chair and organizer of the SSIEM symposium named “Building bridges” held in the Doelen in Rotterdam in 2019, which was attended by more than 3000 participants from 86 countries. The symposium focused in particular on innovative therapies such as gene therapy, regenerative medicine, RNA based therapies and potential benefits from other fields. She has published over 200 publications in peer reviewed international journals and books.

Professor Germain’s research interests include the clinical and biochemical genetics of Fabry disease, Pompe disease and hereditary diseases of the connective tissue, such as pseudoxanthoma elasticum, and mucopolysaccharidoses. He has a strong interest in enzyme replacement therapies, chaperon therapies, dysmorphology, genetics of inherited metabolic diseases and neuro-muscular diseases, and clinical exome sequencing.

Throughout his career, Professor Germain has contributed extensively on the topics of Fabry disease and hereditary diseases of the connective tissue. He has written several book chapters and has published over 130 peer-reviewed papers, most of them as a lead or senior author including publications in The New England Journal of Medicine (August 2016) and The American Journal of Human Genetics.

Peter van Hasselt is manager research and as such member of the leaderships team of the division Child at the UMC Utrecht. He is head of the department of Metabolic Diseases at the Wilhelmina Children’s Hospital. His research centers around creating better care for the rare. Themes include ‘a diagnosis for the undiagnosable’ and critical appraisal of current therapies for the rare for which he has designed innovative epidemiological tools, including targeted cohort analyses and ‘meta-analysis of case reports’ as well as ‘ a treatment for the (currently) untreatable’: getting ready for therapies to come, particularly including CLN3 disease and MPS1H.

Colin lost his daughter Eilish to Krabbe Disease and is now involved in supporting other families, advocating for Krabbe Disease and helping to raise money to fund research in to Krabbe Disease.

Alan is the father of a child affected by Multiple Sulfatase Deficiency. He has a keen interest in lysosomal storage disorders, translational research and rare disease advocacy.