Rarer Types Event Recordings – ES

Serie de eventos EDS ECHO: Tipos raros de los síndromes Ehlers-Danlos

Introducción general (SED, diagnóstico diferencial de todos los tipos de SED) – Prof. Fransiska Malfait

Gante

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. 

Estrategias y dificultades en el análisis molecular de SED – Prof. Johannes Zschocke
Innsbruck

Johannes Zschocke grew up in Cologne, Germany, and studied medicine in Freiburg im Breisgau, Germany, and Belfast, Northern Ireland. Since 2008 he is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria. As director of the Centre for Medical Genetics Innsbruck he is responsible for the provision of genetic services for the Western Austria and beyond. His current clinical and research focus is on inherited metabolic and connective tissue diseases.

SED de tipo clásico (ingl. clEDS) y nuevos tipos – Dr. Serwet Demirdas
Rotterdam

Johannes Zschocke grew up in Cologne, Germany, and studied medicine in Freiburg im Breisgau, Germany, and Belfast, Northern Ireland. Since 2008 he is Professor and Chair of Human Genetics at the Medical University Innsbruck, Austria. As director of the Centre for Medical Genetics Innsbruck he is responsible for the provision of genetic services for the Western Austria and beyond. His current clinical and research focus is on inherited metabolic and connective tissue diseases.

Q&A

Voces desde el interior – Nadéche Hanique – AEBP1
Netherlands

I’m Nadèche Hanique (24) and I’m from the Netherlands. I’m a psychology student specializing in medical and cognitive neuropsychology. I have the 14th type of EDS with a mutation on the AEBP1 gene. I’m very passionate about raising awareness for EDS, HSD and other conditions and disabilities. I also love advocating to improve inclusive education. 

SED y colágeno 1: SED cardíaco valvular (ingl. cvEDS), y SED artrocalasia (ingl. aEDS) – Dr. Anthony Vandersteen
Halifax

Esta presentación de video está disponible para ver en nuestra aplicación de eventos Whova por un tiempo limitado y no se compartirá más.

Dr. Vandersteen is Associate Professor of Pediatrics / Medical Genetics at Dalhousie University and IWK Health Centre, Nova Scotia. 

Q&A

SED tipo dermatosparaxis (ingl. dEDS) – Prof. Fransiska Malfait
Ghent

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. 

Q&A

Síndrome de córnea quebradiza (ingl. BCS) y SED Cifoescoliosis (ingl. kEDS) – Dr. Marianne Rohrbach & Dr. Cecilia Giunta
Zürich

Esta presentación de video está disponible para ver en nuestra aplicación de eventos Whova por un tiempo limitado y no se compartirá más.

Cecilia Giunta

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. 

Marianne Rohrbach

Education/Degrees 

1996 MD, Faculty of Medicine, University of Berne, and Swiss Federal Physician Diploma 

1999 PhD, molecular Genetics, Faculty of Medicine, University of Berne 

2007 Board Certified Pediatrician, FMH Kinder- und Jugendmedizin, Switzerland 

2007 Board Certified Medical Geneticist, FMH Medizinische Genetik, Switzerland 

2014 Habilitation, University of Zurich, Switzerland 

Employments 

2000 – 2003 Residency, University Children’s Hospital Berne, Prof. Dr. med. R. Kraemer, Switzerland 

2003 – 2004 Associate clinical specialist, University Children’s Hospital Berne, Prof. Dr. med. R. Kraemer, Switzerland 

2004 – 2006 “Postdoctoral fellowship” Division of Clinical and Metabolic Genetics, Prof. Dr. med. R. Weksberg, Hospital for Sick Children, Toronto, Canada 

2006 – 2007 Associate clinical specialist, Division of Clinical and Metabolic Genetics, Prof. Dr. med. J. Clark, Hospital for Sick Children, Toronto, Canada 

2007 – 2015 Associate clinical specialist, Division of Metabolism, Prof. Dr. med. B. Steinmann and Prof. Dr. med. M. Baumgartner, University Children’s Hospital, Zurich, Switzerland 

2015 – 2017 Associated Professor, Division of Metabolism, Prof. Dr. med. M. Baumgartner, University Children’s Hospital, Zurich, Switzerland 

2017 – Head of clinical Program, and Debuty laboratory Head, Diagnostic laboratory, Division of Metabolism, Prof. Dr. med. M. Baumgartner, University Children’s Hospital, Zurich, Switzerland 

Q&A

Voces desde el interior – Stephen Newton – clEDS
USA

Stephen Newton spent his entire teenage and adult life going from physician to physician trying to get answers to the health problems that plagued him. He was finally able to get a diagnosis of clEDS in 2019 from the partnership of his Primary Care Physician and Physical Therapist.  Now, with a coordinated care team as support he is able to pursue his Master’s in Counseling Psychology to try to be able to support those experiencing chronic illnesses. 

SED espondilodispásico (ingl. spEDS) – Dr. Roberto Mendoza-Londono
Halifax

Dr. Mendoza-Londono is head of the Genetics Division of the Hospital for Sick Children and Director of the Ehlers Danlos and Connective Tissue Disorders Program. He holds weekly skeletal dysplasia (SD) clinics and monthly multidisciplinary bone health and connective tissue disorders clinics (CTD). His research focus on the identification of the molecular basis of genetic disorders, delineation of the natural history for patients with SD and CTD, and development of clinical practice guidelines. 

Q&A

SED musculocontractural (ingl. mcEDS) – Dr. Tomoki Kosho
Matsumoto

Tomoki Kosho, MD PhD, is a pediatrician and clinical geneticist. He is a Professor of Department of Medical Genetics, Shinshu University School of Medicine and a Director of Center for Medical Genetics at Shinshu University Hospital, where he manages clinical service for patients with various heritable connective tissue disorders including EDS and also clinical and basic research especially on musculocontractural EDS.

SED miopático (ingl. mEDS) – Dr. Fleur Van Dijk
London

Fleur van Dijk combines patient care and research in her profession as consultant clinical geneticist. She studies clinical and genetic aspects of hereditary connective tissue disorders. She leads the national diagnostic Ehlers-Danlos service in London North West Healthcare University NHS trust. This is a tertiary service that is aimed at diagnosis and follow-up of people with monogenic types of EDS. The service covers the South of the UK. 

Q&A

Voces desde el interior – Shefaly Begum & Aminur Ahmed – kEDS
UK

Shefaly Begum and Aminur Ahmed are family members of the late Saarah Ahmed who lived with kEDS and tragically passed away on April 13, 2021 aged 20. Saarah was a finalist for Miss Universe GB, and an active advocate within her community and globally. Her goal was to raise awareness to healthcare professionals and the communities about hidden disabilities and Kyphoscoliotic EDS. She was a beautiful person – caring and wise beyond her years. She had so much wisdom. She wanted to go to university to study neurology. She wanted to help other people. Her proud mum, Shefaly Begum and brother, Aminur Ahmed, want to tell Saarah’s story and fulfil her dream of educating people about EDS. 

Manifestaciones orodentales de SED, SED periodontal (ingl. pEDS) – Prof. Ines Kapferer-Seebacher & Dr. Ulrike Lepperdinger
Innbruck

Ines Kapferer-Seebacher

Nationality: Austrian 

2000 – License in dental medicine, LMU Munich, Germany 

2002 – Doctoral Thesis, Munich University of Technology, Germany 

2010: Master of Science in periodontics, Medical University Vienna, Austria 

2019: Deputy Head, Department of Operative and Restorative Dentistry, Medical University Innsbruck, Austria 

2020: University Professor for operative dentistry and periodontology 

Ehlers-Danlos Society: Head of the Oral, Mandibular and ENT Manifestation Group 

 Ulrike Lepperdinger

2019 – Dr. med. dent. Thesis and license in dental medicine, Medical University Innsbruck, Austria 

2020- University assistant, Medical University of Innsbruck, Austria 

Oct. 2020-2023 Clinical PhD Training. Topic: Oral Manifestations of Ehlers-Danlos- Syndromes 

Q&A

Asuntos SED raro: estudios de cohorte, futuro, temas generaales, Sociedad SED, organizaciones de pacientes

Esta sesión se está procesando actualmente y se agregará una vez que esté disponible.

DISCLAIMER: This page is a translation of the original in English for information purposes only. In case of a discrepancy, the English original will prevail.