Despite representing no more than 10 % of the total number of genetic diseases, inherited metabolic diseases are disproportionately important as many of them are treatable. Dietary treatment for phenylketonuria was developed in the mid-20th century, and led to the introduction of universal newborn screening programmes. Dietary treatments are now available form many disorders, and more recently small molecule and biological approaches have been developed. Organ transplantation has been used successfully in a range of conditions and genetic approaches are now being developed.
This course will review current management of a range of inherited metabolic diseases throughout the patient’s lifetime, and discuss what can be expected of treatment and what limitations remain.
LEARNING OBJECTIVES
- To understand the current role of special diets, small molecule and biological pharmacologic approaches, organ transplantation, and other treatment options in inherited metabolic disease.
- To learn about management of special circumstances such as metabolic decompensation and pregnancy in patients with inherited metabolic disease.
- To provide an insight into new therapeutic strategies such as DNA and RNA based therapies.
All the lectures will be held in English with no simultaneous translation.
Institutes of main organisers - providers
- Medical Genetics Service, Hospital de Clinicas de Porto Alegre
- Charles Dent Metabolic Unit, London
- Sant Joan de Déu Hospital, Barcelona
Scientifc Organising Committee
- Roberto Giugliani (Porto Alegre, Brazil – co-chair)
- Angeles Garcia-Cazorla (Barcelona, Spain)
- Robin Lachmann (London, UK)
- Ida Vanessa Schwartz (Porto Alegre, Brazil – co-chair)
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