The joint KU Leuven - UCLouvain symposium “A Holistic Approach on Rare Diseases” is held on the occasion of the 600th anniversary of our universities.
This one-day event brings together researchers from both the KU Leuven Institute for Rare Diseases (Leuven.IRD) and the UCLouvain Institut des maladies rares to share insights, learn from each other’s expertise and spark new collaborations in the field of rare diseases.
| 1.00 p.m. - 3.10 p.m. | Introduction Prof. Marion DELCROIX (KU Leuven) & Prof. Olivier DEVUYST (UCLouvain) |
| Unraveling unmet needs of persons with rare diseases Prof. Isabelle HUYS (KU Leuven) | |
| A translational path along inherited kidney diseases Prof. Olivier DEVUYST (CuSL / UCLouvain) | |
| Organisation and recognition of the multidisciplinary expertise centre for epidermolysis bullosa Dr. Caroline COLMANT & Prof. Gunnar NAULAERS (KU Leuven) | |
| Recent advances in Hemophilia Prof. Cédric HERMANS (CuSL / UCLouvain) | |
| Prenatal treatment of congenital diaphragmatic hernia: from bench to bedside and a global RCT Prof. Jan DEPREST (KU Leuven) | |
| Neonatal screening of inborn errors of metabolism by tandem mass spectrometry: insights from 450,000 tests in a single centre and recent advances Prof. Marie-Cécile NASSOGNE & Prof. Joseph DEWULF (CuSL / UCLouvain) | |
| Coffee Break | |
| 3.45 p.m. - 5.45 p.m. | Houge-Janssens syndrome: how patient participation and basic researcher collaboration leveraged the journey from diagnosis to first clinical trials for rare PP2A-related developmental disorders Prof. Veerle JANSSENS (KU Leuven) |
| RNU4-2 : From Patients’ Diagnostic Odyssey to a Rapid Breakthrough in Knowledge Prof. Nicole REVENCU (CuSL / UCLouvain) | |
| PIAS4 deficiency as a novel cause of autoinflammation Prof. Isabelle MEYTS (KU Leuven) & Prof. Nisha LIMAYE (DDUV, UCLouvain) | |
| Electronic Medical Record and Rare diseases Dr. Joëlle THONNARD (CuSL / UCLouvain) | |
| From discovery to gene therapy in <20y for the MECP2 duplication syndrome Prof. Dr. Hilde VAN ESCH (KU Leuven) | |
| Congenital Disorders of Glycosylation: a genuine Leuven-Louvain story Prof. Emile VAN SCHAFTINGEN (DDUV, UCLouvain) | |
| 5.45 p.m. - 5.55 p.m. | Conclusion Prof. Jean-Pascal MACHIELS (CuSL) |
| 6.00 p.m. - 8.00 p.m. | Reception |
*Accreditation in Ethics and Economics