Laura de Graaff - Metabolism & Reproduction Group

Laura de Graaff is an adult endocrinologist and associate professor Genetic and Developmental Endocrinology at both Erasmus and Radboud University Medical Center in the Netherlands. As the founder of the Center for adults with Rare Genetic Syndromes (RGS), she leads both clinical research and fundamental research lines investigating biomolecular pathways and cellular mechanisms involved in RGS. 

She obtained her medical degree from the University of Leiden in 2001. She finished her PhD in 2008, based on genetic studies in patients with congenital hypothalamic and pituitary disorders. In 2015 she finished her medical training in Internal Medicine-Endocrinology and launched the Center for adults with RGS.  
The Center for adults with RGS attends adult patients of 19 national reference centers, including neurodevelopmental disorders (DNA repair disorders, CHARGE, Williams-Beuren syndrome, RAS-opathies and several ultra-rare syndromes); Rare Growth Disorders (including congenital hypopituitarism and Silver Russell Syndrome); Disorders of Sex Development (including CAH, Klinefelter and Turner Syndrome) and Prader-Willi (like) Syndrome. These expert centers are all part of ERN-ITHACA (Intellectual Disability and Congenital Malformations) or Endo-ERN. Within ERN-ITHACA, Dr. de Graaff co-chairs the subnetwork Adults with Intellectual Disabilities. 

The multidisciplinary team of the Center for RGS takes care of over 1700 adults with RGS.
The Center for RGS aims to improve quality of healthcare for adults with RGS, combining unique specialized multidisciplinary care with innovative fundamental and clinical research.  
Key topics are: 
• Syndrome-specific multidisciplinary care, serving as center of referral for relatively large groups of patients with (ultra-) rare disorders 
• Personalized transition through the Young Adults Clinic,  
• Basic and clinical research among adults with rare genetic syndromes, investigating the clinical manifestations in adulthood and providing insight into the pathophysiological processes underlying these syndromes 
• Translational research into (premature) aging in adults with RGS, combining clinical and biomolecular ageing markers 
• Writing recommendations and guidelines for treatment of adults with RGS, in order to prevent over- and undertreatment and medical complications. 

Links:

ResearchGate: https://www.researchgate.net/profile/Laura-De-Graaff

LinkedIn: https://www.linkedin.com/in/laura-de-graaff-a5047648/

ORCID: https://orcid.org/0000-0002-0295-7063