10th European metabolic course

Submitted by admincyim on Wed 01/07/2020 - 16:40
Heidelberg, Germany
Heidelberg

Inherited metabolic diseases (IMDs) are an increasing and one of the most common groups among rare diseases. In order to provide optimal care for patients, it is essential that health professionals involved in the diagnosis and management of IMDs have a thorough understanding of these conditions. The purpose of this course is to ensure an appropriate level of knowledge for those training in this area of medicine.

This course is designed primarily for paediatricians, physicians, and laboratory scientists aiming to increase their knowledge in the area of IMDs, but is also suitable for specialist dietitians and nurses. The broad spectrum of IMDs affecting the metabolism of carbohydrates and glycoproteins, amino and organic acids, neurotransmitters, mitochondrial, lysosomal and peroxisomal disorders, will be covered by local and international experts.

The programme will include plenary lectures of international experts, case presentations of participants and smaller groups for problem-based learning style clinical and laboratory workshops.

The course will be interactive and participants are asked to submit a short case study to illustrate a particular diagnostic or clinical management problem.

LEARNING OBJECTIVES

  • To mediate a basic understanding of human biochemistry and the adverse effects caused by genetic disorders affecting key metabolic pathways.
  • To be aware of the variable clinical presentations that occur in IMDs focusing on differences between clinical and management aspects in children, adolescents and adults.
  • To appreciate the different analytical techniques used in the diagnosis of IMDs and to know which investigations should be used in order to reach a correct diagnosis.
  • To know which disorders are amenable to treatment and consequently require immediate consideration.
  • To know the major principles and practicalities of the emergency management of IMDs.
  • To appreciate and understand the long-term management of IMDs focusing also on aspects of transitional care and metabolic management during pregnancy.

Institutes of main organisers - providers

Centre for Childhood and Adolescent Medicine, University Hospital Heidelberg.

The book of learning is always open. The motto engraved on the Rector’s Seal is expressive of a mindset that the University of Heidelberg has done its best to honour ever since its foundation in 1386. Heidelberg is Germany’s oldest university and one of the oldest in Europe. From the outset of its foundation, more than 625 years ago, the University of Heidelberg has boasted a Faculty of Medicine. In the past centuries a huge number of internationally renowned physicians such as Helmholtz, Czerny, Erb, Krehl, zur Hausen and Bickel were part of the constant rose of the Medical Faculty. With an intake of 480 students each year, and a total number of around 3,400 beds, the University Medical Faculties (Heidelberg and Mannheim) make up one of the largest medical teaching complexes in Germany. At present, there are 175 professors and over 1,450 staff scientists teaching 4,450 medical students and 475 students of dentistry. About 600 students come from abroad. Heidelberg is an integral part of an extremely close-knit research landscape. Various collaborative research projects, a number of postgraduate research groups and flourishing collaborative partnerships with faculties and institutions abroad as well as in Heidelberg such as the German Cancer Research Centre, the European Molecular Biology Laboratory and the Max Planck Institutes of Medical Research and Cell Biology, all testify to the high standard of medical research, training and care available in Heidelberg. The Centre for Child and Adolescent Medicine has, beside others, a long-standing tradition and reputation in the field of IMDs, especially neurometabolic disorders and newborn screening. The hospital is equipped with specialized wards for patients with metabolic and endocrinological problems, a huge outpatient clinic, a newborn screening laboratory, various research facilities, and one of the largest laboratories for the biochemical and molecular diagnosis of IMDs serving physicians and institutions from all over Germany. For more 10 years, structured training for Paediatric Metabolic Medicine, certified by the UEMS, is provided. The centre coordinates various clinical network studies on a national, European an international level.

Event comitee

Scientifc Organising Committee

  • Prof. Dr. med. Stefan Kölker
  • Prof. Dr. med, Prof. h.c. mult. (RCH) Georg F. Hoffmann
  • Priv.-Doz. Dr. med. Dorothea Haas
  • Priv.-Doz. Dr. med. Thomas Opladen
  • Priv.-Doz. Dr. phil. Jürgen G. Okun

Contact RRD Foundation

Cecilia Kellquist
Recordati Rare Diseases Fondation d'entreprise
Immeuble ‘Le Wilson’
70 avenue du Général de Gaulle
92800 PUTEAUX, France
Telephone : +33 1 47 73 86 11
Fax : +33 1 49 00 18 00
Email : ckellquist@rrd-foundation.org