Fransiska Malfait, MD, PhD

Chief Scientific Officer, Board of Directors
Vice Chair, Medical and Scientific Board
Steering Committee and Rarer Types Committee Chair, International Consortium on EDS

Geneticist/Rheumatologist (Belgium)

After obtaining her university degree as a medical doctor in 2000, Fransiska Malfait performed a 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 PhD degree in medical sciences, with a thesis entitled, “New insights in the molecular pathogenesis of the Ehlers-Danlos syndrome.” Simultaneously, Dr. 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. After finalizing her specialization, she returned to the center for medical genetics Ghent as a staff member, where she started an independent research line in the field of HCTD, particularly focusing on the Ehlers-Danlos syndrome and osteogenesis imperfecta. She and her team recently characterized several novel EDS-like conditions for which they identified defects in proteoglycan biosynthesis and part of her future research work will focus on unraveling the interactions between collagen and proteoglycans in humans and in zebrafish models. Furthermore she is involved in clinical studies on chronic pain and autonomic dysfunction in patients with EDS and other HCTDs.

Dr. Malfait is solicited intensively by patients, physicians, caretakers and scientists from over the world, regarding clinical, diagnostic, management and research issues concerning HCTD. She established a large international network of collaborators, both clinical and scientific. Together with Anne De Paepe, she co-chaired the First International Symposium on the Ehlers-Danlos syndrome, which took place in Ghent in September 2012. In addition, she was recently elected as the President of the International Consortium on Ehlers-Danlos syndrome. To date, she has published over 70 papers in international, peer-reviewed journals. Her h-index is 19 (ISI). She established a multidisciplinary clinic for patients with Ehlers-Danlos syndrome and her clinical and scientific expertise are underscored by the recent election as a laureate for the Edelweiss award by the national alliance for rare diseases in Belgium – Rare Diseases Organisation in Belgium.

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