XI Congreso Mundial

Is a pediatric neurologist at Shriners Children's Salt Lake City, professor (clinical) of pediatrics and adjunct associate professor of neurology at the University of Utah. She received her medical degree from the University of Utah School of Medicine, completed her residencies in pediatrics and neurology (with special qualification in pediatric neurology) at the University of Utah and received a Ph.D. in physiology from the University of Virginia.

Dr. Kerr attended Yale University for her undergraduate education and there became interested in the complexities of the nervous system. She majored in neurolinguistics before going on to obtain her Ph.D. in physiology at the University of Virginia. She moved to Utah to do a postdoctoral fellowship with Dr. Doju Yoshikami in the department of biology. During that time, she became increasingly interested in clinical aspects of central nervous system function and so chose to go on to medical school at the University of Utah. She did her pediatric internship and residency and then her neurology residency at the University of Utah. Between starting medical school and finishing her neurology residency, Dr. Kerr had four children.

Dr. Kerr is particularly interested in working with children with chronic conditions. As part of this focus, she has worked on the Medical Home Portal, a website for primary care providers and families of children with special health care needs. Also reflecting this interest, Dr. Kerr has served on numerous community boards and is currently a clinical advisory board member of the Cornelia de Lange Syndrome Foundation and was on the community board for the Salt Lake Ronald McDonald House charities.

Dr. Kerr volunteered with a medical education and service mission to Ghana in 2013 and Thailand in 2016. She has previously been on a similar mission to Yanamono, Peru.

Research and clinical interests include quality improvement and headache evaluation and treatment. Dr. Kerr is a pediatric neurologist with the University of Utah Medical Center and works at Primary Children's Hospital, as well as Shriners Children's Salt Lake City.

Dr. Kerr's hobbies include hiking the incredible mountains in St. Lake City, playing piano, and traveling anywhere in the world.

Neurólogo Universidad del Rosario.
Investigador en enfermedades huérfanas como Cornelia de Lange.

Marco Grados, M.D. is Professor of Psychiatry & Behavioral Sciences at Johns Hopkins School of Medicine. He is the clinical director for the Division of Child & Adolescent Psychiatry. He has ample clinical experience with individuals with intellectual disability and psychiatric disorders, through his work at the Kennedy Krieger Institute.

His specialty is in obsessive-compulsive disorder (repetitive behaviors), as well as Tourette disorder and Autism Spectrum Disorder. He is dedicated to genetic epidemiology research in obsessive-compulsive disorder (OCD) and related disorders, for which he obtained a five-year Research Career Development Award from the National Institute of Mental Health (2002-2007) to study the genetics of OCD in children.

He has collaborated with several genetic research networks including the Tourette syndrome International Genetics Consortium, and the Obsessive-Compulsive Disorder Genetics Study group. Dr. Grados also conducts research in Cornelia de Lange syndrome (CdLS), with support from the CdLS-USA Foundation, in relation to behavioral challenges in youth with CdLS.

Received her MD degree from Cornell University Medical College, NY. Her residency training was in the Department of Obstetrics and Gynecology at the Hospital of the University of Pennsylvania, Philadelphia, PA. Dr. Blagowidow pursued specialty training as a Fellow in Reproductive Genetics and Human Genetics, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania and in the Division of Human Genetics at The Children's Hospital of Philadelphia. Dr. Blagowidow is board-certified in both clinical genetics and clinical cytogenetics. She is also a Founding Fellow of the American College of Medical Genetics. Dr. Blagowidow's clinical specialties include assessment of pregnancy by ultrasound including Doppler flow and 3D imaging and by invasive testing including CVS and amniocentesis. She is interested in pubertal and post-pubertal gynecological issues in females with Cornelia de Lange Syndrome (CdLS). Natalie is a gynecology consultant for the CdLS Clinical Advisory Board (CAB) for the Foundation and the Baltimore CdLS Clinic.

Neuro experta en Epilepsia y temas asociados.
Universidad Médica de Gdansk.

Since 2013, he has been Professor of Functional Genetics and Human Genetics at the Institute of Human Genetics at the University of Lübeck. In addition to genetic and functional analysis in the field of cohesinopathies (like Cornelia de Lange syndrome), the research of his research group focuses on molecular mechanisms in the area of genetic disorders and hereditary diseases. 

He studied biology at the Ruhr-University Bochum. In his doctorate and postdoctoral studies at the Institute of Human Genetics in Essen, he performed functional analysis of the transcription factor TRPS1. 

Genetista. Presidente Asociación Colombiana de Médicos Genetistas

Director del Instituto de Genética Humana de la Universidad Javeriana y Genetista del Instituto Roosevelt.

Las áreas de experiencia de Tonie incluyen la evaluación de múltiples defectos de nacimiento y/o problemas de desarrollo y la interpretación de los resultados de las pruebas clínicas. 

Obtuvo su título de médico y su formación postdoctoral en genética médica en el Jefferson Medical College, Filadelfia, Pensilvania, y su formación en citogenética clínica y molecular en la Facultad de Medicina de la Universidad Johns Hopkins, Baltimore, Maryland. 

También es miembro de la Academia USA de Pediatría y miembro fundador del Colegio USA de Genética Médica. 

Psicólogo licenciado por la UCA de Buenos Aires, Argentina.
Equipo de Apoyo de Cdls España.

Especialista en Neuropsicología Magister en Enfermedades raras.
Neuropsicóloga Fundación IDEAl Universidad Javeriana.

He did his PhD on Behavioural Phenotyping in Genetic Syndromes, with special focus on cognition, self-injury, sensory processing and autism in Cornelia de Lange Syndrome, Malan Syndrome and Marshall Smith Syndrome.

He is currently in training to become health care psychologist.

Genetista Pediatra Catedrática de la Universidad Nacional de Colombia Coordinadora comité de enfermedades huérfanas de la Asociación Colombiana de Sociedades Científicas

Fonoaudióloga Maestría en Psicología, inclusión y Discapacidad desarrollando habilidades y capacidades Diversas.
Directora del Grupo de Apoyo a las Familias Cdls en Colombia.

Peter se formó en Newcastle y Edimburgo y en el Hospital Infantil de Vancouver, y asumió su puesto actual en 2001. Sus intereses son la enfermedad celíaca, los trastornos del tracto gastrointestinal superior y del intestino delgado, la endoscopia y el estreñimiento y su mejora en la gestión, la informática, la educación y el compromiso con los colegas y las familias para que la gestión holística sea más coherente y receptiva.

Estableció el servicio regional de celiaquía pediátrica del SE de Escocia en 2001 y ha sido asesor de Coeliac UK durante más de 10 años y forma parte de su Consejo Asesor de Salud. Fue miembro del grupo del gobierno escocés que desarrolló el servicio de alimentos sin gluten y fue miembro del grupo NG20 de la enfermedad celíaca de NICE, actualmente preside el grupo de trabajo de celíacos de BSPGHAN y codirige la nueva estrategia de celíacos del gobierno escocés que tiene como objetivo proporcionar un diagnóstico óptimo y un tratamiento continuo para los pacientes con SCdL.

Es pediatra y genetista clínico (certificado por la ABMG-USA) y trabaja en el Hospital Universitario "Lozano Blesa" de Zaragoza, España, donde es jefe de la Unidad de Genética Clínica del Servicio de Pediatría. Es Profesor Titular de Pediatría y Presidente del Departamento de Pediatría de la Facultad de Medicina de la Universidad de Zaragoza. Trabaja en SCdL desde 2004. Es el Coordinador del Centro Nacional de Referencia de España en SCdL.