Join ERN-EYE and Endo-ERN webinar – Blepharophimosis syndrome (BPES)

Biographies

Prof. Dr. Elfride De Baere

Prof. Dr. Elfride De Baere, MD, PhD, is Senior Full Professor of Medical Genetics at Ghent University and Head of Clinic at Ghent University Hospital in Belgium. She leads the Eye and Developmental Genetics team, with a strong focus on inherited eye diseases and developmental disorders. Prof. De Baere is internationally recognized for her pioneering work on FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), including genetic and functional studies, which provided translational insights that shaped diagnostics and counseling. Her research combines multi-omics, functional genomics, and stem cell models to advance precision medicine for rare eye and developmental diseases. She co-chairs the Genetic Diagnostics TWG6 of ERN-EYE and is EndoERN member

Prof. Sophie Christin-Maitre

Prof. Sophie Christin-Maitre, MD, PhD, is Senior Full Professor of Sorbonne University and Head of Endocrine, Diabetes and Reproductive Medicine Unit at Hopital Saint-Antoine, Assistance-Publique Hôpitaux de Paris, in France. She is a member of the Inserm research Unit UMR-S933. She coordinates a Rare disease center for adult patients, CRESCENDO, in Saint-Antoine hospital. This center is recognized as an Endo-ERN center.

Her research focusses on reproductive endocrinology. She is involved in genetics of primary ovarian failure. More recently, her research focusses on the multidisciplinary care of adult patients with Turner syndrome.

Dr. Christian Decock

Dr. Christian Decock, MD, PhD, is a Belgian ophthalmologist specialized in oculoplastic and orbital surgery at AZ Maria Middelares, Ghent. He earned his MD from Ghent University in 1999, completed his ophthalmology specialization in 2003, and pursued a fellowship in oculoplastic surgery at the Rotterdam Eye Hospital (2003–2004). He earned a PhD for research on blepharophimosis‑ptosis‑epicanthus inversus syndrome (BPES) and focuses on complex eyelid disorders and surgical management. Selected publications regarding BPES include: Correction of the lower eyelid malpositioning in BPES, Insights into levator muscle dysfunction in BPES, and Increased levator muscle function by supramaximal resection in BPES.

Vanessa Rodrigo Jakubowski

Vanessa Rodrigo Jakubowski lives in Marbella, Spain with her husband and son Emilio, 2.5 years old. Emilio was born with severe Blepharophimosis in July 2023, and Vanessa and her family had to navigate a very difficult situation without a diagnosis, information or resources. After finding a video on YouTube, which gave them they answers they needed about Emilio´s condition, they raised 18,000 euros for Emilio to have specialist surgery when he was 10 months old. After the surgery, Vanessa decided the start a charity, Through Our Eyes, registered in the UK and Spain, to help other families in the same situation as they were.