2020 Virtual Summer Conference – Day 1 ES

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CONFERENCIA VIRTUAL DE VERANO 2020 – VIERNES 10 DE JULIO

Genética para principiantes

Dr Christina Laukaitis

Christina M. Laukaitis, MD, PhD is an associate professor in the University of Arizona College of Medicine. She also leads the clinical genetics efforts for the Department of Medicine and the Center for Applied Genetics and Genomics. She is board certified in Internal Medicine and Medical Genetics. She earned her MD and PhD from the University of Illinois. She completed a residency in Internal Medicine at St. Vincent Hospital in Indianapolis, IN and a Medical Genetics fellowship at the University of Washington. She joined the faculty at the University of Arizona College of Medicine in 2008. Dr. Laukaitis’ clinical practice and research focus on diagnosing and managing patients with genetic syndromes. She cares for a large cohort of people with various forms of Ehlers-Danlos syndrome and has organized the hEDS gene study, a major effort to identify genes predicting the hypermobile subtype of EDS.

¿Cómo interpretar una prueba genética? Mutaciones y variantes con significado desconocido

Prof. Fransiska Malfait

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. 

Preguntas y respuestas con los Dres. Francomano, Laukaitis y Malfait

Tipos de complicaciones y sus investigaciones

Dr Sherene Shalhub

I am a vascular surgeon, a translational researcher at the University of Washington (UW), and the Director of the Multidisciplinary Vascular Genetics Clinic at the University of Washington Medical Center. I hold the position of Assistant Professor in the Department of Surgery and am an affiliate faculty of the Surgical Outcomes Research Center (SORCE). My work aims to provide high-quality care to patients suffering from rare vascular conditions such as Vascular Ehlers Danlos Syndrome. My goal is to improve the success of surgical repair and long-term survival for these high-risk patients while maintaining an excellent quality of life in a manner that is in line with their priorities and personal values. Dr. Shalhub is the lead investigator for the Vascular Ehlers-Danlos Collaborative funded by the Patient-Centered Outcomes Research Institute (PCORI) and for the Vascular Ehlers-Danlos Collaborative Research Study.

Pasando por la sala de emergencias

Dr James Black

Dr. Black is the Chief of Vascular Surgery and Endovascular Therapy at Johns Hopkins Hospital, and the David Goldfarb, MD Associate Professor of Surgery at Johns Hopkins University School of Medicine. Dr. Black is an expert in the application of endovascular technology for patients with aortic and vascular disease, and he has unique expertise in open surgical reconstruction for connective tissue disorders. To the subject of aortic diseases, he has given invited lectures to the White House Medical Unit and the FDA section in charge of cardiovascular devices. His research interests include the molecular events underpinning the development of aortic catastrophe in both atherosclerotic and genetic arthropathies.

Preguntas y respuestas con los Dres. Shalhub y Black

Los retos de vivir con un trastorno raro

Prof Fransiska Malfait

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.

Apoyando a familias de niños con enfermedades raras

Dr Lauren Puryear

Lauren Puryear joined the Genetic Medicine Clinic at the University of Washington Medical Center in 2016. She provides genetic counseling to patients referred to the clinic for a variety of conditions with a particular interest in vascular Ehlers-Danlos syndrome and other connective tissue disorders. Ms. Puryear received a Bachelor of Arts degree in psychology from Stanford University and worked as an educator and mediator before returning to school to study genetics. She received her Master of Science in Human Genetics and Genetic Counseling from Stanford University and was board certified by the American Board of Genetic Counseling in 2016.

Manejo de complicaciones en el sistema digestivo

Prof Qasim Aziz

Professor Aziz completed his undergraduate medical training in his native Pakistan in 1983. After this, he came to the United Kingdom for higher medical training. He started his research career at the University of Manchester and obtained his PhD in 1996. He is now Professor of Neurogastroenterology at Barts and The London School of Medicine and Dentistry at Queen Mary, University of London. Professor Aziz’s research focuses on understanding the neurophysiological basis of human brain-gut communication. He has made an important contribution to the understanding of how gut pain is processed in the brain, and how both inflammation/injury to gut nerves and psychological factors can lead to the development of chronic gut pain.

Manejo de complicaciones en la piel

Dr Nigel Burrows

Dr. Nigel Burrows is a Consultant Dermatologist at Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, UK. He is a past President of the British Society for Paediatric Dermatology. He has been interested in Ehlers-Danlos Syndromes since the mid -1990s when he undertook his MD thesis on ‘The Molecular Genetics of Ehlers-Danlos Syndrome Types I and II’ (Classical). He is actively involved in the management of patients with EDS and in clinical research. In addition to peer-reviewed publications on EDS he has written several book chapters on inherited disorders of connective tissue, as well as lecturing on many courses on EDS. He is on the medical advisory board for two UK EDS patient support groups.

Pregunta a los especialistas: preguntas y respuestas con los Dres. Aziz, Madrigueras, Francomano, Malfait, Puryear, Shalhub y Lara Bloom

RENUNCIA DE RESPONSABILIDAD

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