Partner Institutions Partner Institutions

Chronic Diseases Research Center - NOVA Medical School (CEDOC-NMS|FCM) (Portugal)

CEDOC-NMS|FCM is located in the main campus of NOVA Medical School (NMS) in central Lisbon and has affiliation with 10 Hospitals in the Lisbon Metro area, together with established protocols with several patient associations (e.g. APDP – Protective Association of Diabetics of Portugal, Raríssimas) and Medical Societies (e.g. Portuguese Society for Rheumatology).

Created in 2007, CEDOC-NMS|FCM brings together biomedical, translational and clinical research under a multidisciplinary and collaborative spirit, hosting a strong scientific critical mass with the mission of better understanding the molecular mechanisms of chronic diseases and develop advanced and personalized therapies that can ultimately lead to an improvement in the quality of life and well being of the population.


Partner Institutions

Münster University (WWU) (Germany)

Münster University (WWU) is the fifth-largest University in Germany. WWU´s Medical School aims to connect excellent basic science and clinical science focusing on immediate translation of new basic knowledge into clinical research and innovative practical patient care, diagnosis and treatment for the sake of patient’s health.

The Department of General Pediatrics of the WWU´s Medical School has a strong interest in rare diseases, both with regards to clinical care and basic and translational research. The main research focus of the Department are ciliopathies, such as Primary Ciliary Dyskinesia (PCD), metabolic diseases, and pediatric syndromic and renal diseases, often associated with cilia dysfunction.

LYSOCIL WWU Research Groups

  • • Heymut Omran: Molecular and functional analysis of primary ciliary dyskinesia (PCD)
    • • Heike Olbrich
    • • Niki Tomas Loges
    • • Gerard Dougherty
    • • Julia Wallmeier
    • • Petra Pennekamp
    • • TabeaNöthe-Menchen
    • • Sandra Cindric

  • • Martin Konrad: Inherited Renal Tubular Disorders
  • • Jens König: Cystic Kidney Diseases of the Childhood
  • • Karl Peter Schlingmann: Inherited Renal Tubular Disorders
  • • Uwe Hansen: Electron Microscopy
  • • Frank Rutsch: Rare Pediatric Metabolic and Autoimmune Disorders
  • • Bernd Dworniczak: Human Genetics
  • • Thomas Weide: Lysosomal signaling in glomerular disease

Partner Institutions

Telethon Institute of Genetics and Medicine (TIGEM - FTELE.IGM) (Italy)

The Telethon Institute of Genetics and Medicine (TIGEM - FTELE.IGM) is a Telethon Foundation organization founded in 1994 as a leading Italian research center, located in Pozzuoli, Italy, just outside Naples.

TIGEM is a multidisciplinary research institute devoted to the study of the mechanisms underlying rare genetic diseases and to the development of innovative therapies. The main research focus of this institute are neurodegenerative diseases, lysosomal storage disorders, membrane trafficking defects, disorders of liver metabolism and eye diseases.

LYSOCIL TIGEM Research Groups

  • Antonella De Matteis: Cell Biology and Disease Mechanisms
    • • Leopoldo Staiano

  • Roman Polishchuck: Advanced Microscopy and Imaging Core
    • • Lena Polishchuck

  • Carmine Settembre: Lysosomal Processes in Skeletal Development and Diseases
    • • Giorgia Di Lorenzo

  • Diego Medina: Lysosomal Calcium Signalling and Autophagy
    • • Simone Di Paola

  • JleniaMonfregola: Modulating Cellular Clearance to Treat Human Disease (Andrea Ballabio group)

  • Cristina Nicolina Sorrentino: Preclinical studies and Translational Unit 
  • • Alessia Indrieri: Mitochondria- and metabolism-related processes involved in cellular metabolic pathways

  • • Gennaro Napolitano: Lysosome signalling-autophagy regulation 

Rare Disease