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Holten Family

In the study, researchers at Emory University School of Medicine and Sanford-Burnham used whole-exome sequencing to find the mutations causing a glycosylation disorder affecting Liam, a boy born in 2004.

Los principales retos son continuar describiendo fenotipos y desarrollar un modelo animal que permita investigar en posibles tratamientos.

Doenças raras

Convidado: Vanessa dos Reis, Associação Portuguesa CDG e outras Doenças Metabólicas Raras

Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed.

From N.I.H.

Full text article

From U.S. National Library of Medicine, National Institutes of Health

EUROGLYCANET:a European network that aimed on the advancement of research, diagnosis and treatment of CDG, was created in 1999 and has been supported by the European Commission since 2000.

The advantage of a network like  EUROGLYCANET is the close interaction between expert clinicians and specialised researchers. In addition, contributed to create a patient registry that will enormously contribute to: 

1.  advance on CDG  knowledge: by boosting epidemiological, clinical or social research

2.  Identify and monitore the care of patients

3. To potentiate collaborations directed to possible treatments

This website from the Nijmegen Center for Disorders of Glycosylation (NCDG) has been established to provide information on congenital disorders of glycosylation (CDG) for patients with CDG, parents, professionals and people otherwise interested in CDG. Behind the scenes of this website, a team of clinically involved people and researchers at the Radboud University Nijmegen Medical Center daily focuses on early diagnosis and treatment of patients with CDG and find ways to improve their quality of life.

Highlights
RDTF Report: Patient registries for rare diseases (Revision June 2011)RDTF Report: Patient registries for rare diseases (Revision June 2011)
 

No current trials for CDG here but check back for future trials.

EuroGentest2 is a Coordination Action funded by the 7th Framework of the European Commission. The project is organised in 3 Units looking at all aspects of genetic testing.

En el momento actual, nuestra unidad esta compuesta por más de 15 especialistas en diferentes áreas de la neuropediatría, gastroenterología y nutrición, psicología, farmacia y bioquímica, que cuentan además con el apoyo de otras especialidades pediátricas...