Dermatosparaxis EDS (dEDS) - Prof. Fransiska Malfait | English (EN)

Published 2021-07-13
After obtaining her university degree as a medical doctor in 2000, Fransiska Malfait performed pre-doctoral training on the phenotypic characterization and identification of novel genetic defects in several subtypes of the Ehlers-Danlos syndrome (EDS). This resulted in a series of peer-reviewed publications and a Ph.D. degree in medical sciences, with a thesis entitled, “New insights in the molecular pathogenesis of the Ehlers-Danlos syndrome.” Simultaneously, Prof. Malfait was also trained as a clinical geneticist and became involved in the genetic counseling and clinical care of patients with heritable connective tissue disorders (HCTD). Impressed by the chronic musculoskeletal problems and pain that patients with these conditions suffer from, she decided to further specialize in rheumatology, a degree she obtained in 2009. Her training as both a clinical geneticist and rheumatologist provided her the opportunity to develop a unique expertise in the diagnosis and management of patients with these conditions.

All Comments (2)
  • I was born in 1992. I 1:58 have 4 ADAMTS2 variants, two of which associated with this type of EDS but my primary care provider does not care and I cannot get a genetics appointment without a referral