Faculdade

Departamento

Jaak Jaeken | 9th Conference Cycle UCIBIO & LAQV

Mon, 17 December 2018, 12:00 - 13:00
Tipo de evento: 
Seminário
Localização específica: 
Room 217D - Edifício Departamental

Jaak Jaeken
UZ Leuven and KU Leuven, Belgium; CDG & Allies-Professionals and Patient Association International Network (CDG & Allies-PPAIN), Portugal

 

 Congenital Disorders of Glycosylation (CDG): on sugar trees and beyond

 

Host: Paula Videira

 

Abstract
Congenital Disorders of Glycosylation (CDG) are a rapidly growing familiy of rare metabolic diseases. Over 130 types of the disease are known to date. In CDG glycan are defective or lacking and this leads to a multitude of clinical manifestations, including neurological, cardiac, hepatic, ocular and immunological dysfunction. The clinical and cellular complexity of these diseases makes them a diagnostic challenge. However, they are also interesting research models for basic and clinical science. 

 

Short Bio
Professor Jaak Jaeken received his M.D. degree from the University of Leuven in 1967.   The contribution of Prof. Jaeken to medicine is exceptional, mainly in the field of metabolic disorders, due to the princeps-description of several metabolic diseases. In 1980, Prof. Jaeken was the first to describe  patients with a congenital disorder of glycosylation (CDG).  In 1999 he received the degree of Doctor Honoris Causa from the University of Zürich, and in 2000 from the University of Havana. Since 2006, he is Emeritus Professor at the Faculty of Medicine. Prof. Jaeken is currently on the the Editorial Board of The Journal of Inherited Metabolic Disease (since 1994) and of Brain & Development (since 2004). He is a member of numerous societies and councils and he has received many prizes and honours. Prof. Jaeken’s publication list includes 517 papers, including 339 peer reviewed international publications, 2 books, 32 book chapters. He was guest editor of 2 special volumes on CDG.