Ponentes y apoyos

COLOMBIA
COLOMBIA
COLOMBIA

Dra. Luz Marina Pérez Naranjo


Abogada experta en Discapacidad, Maestrante de la Universidad Nacional en Discapacidad, experta en asesoramiento de capacidad jurídica legal y otros derechos de las personas con Discapacidad con Enfermedades Huérfanas y otros diagnósticos.


COLOMBIA
COLOMBIA
COLOMBIA

Dr. Gerardo Restrepo



ESTADOS UNIDOS
ESTADOS UNIDOS
ESTADOS UNIDOS

M.D., M.P.H. Marco Grados


Marco es Child Psychiatry de la International Scientific Advisory Council (SAC)

 

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.

 


ESTADOS UNIDOS
ESTADOS UNIDOS
ESTADOS UNIDOS

M.D. Ph.D. Lynne Kerr


Lynne es Professor of Pediatrics de la University of Utah Medical Centre, Salt Lake City

 

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.

 


ESPAÑA
ESPAÑA
ESPAÑA

Dr. Juan Pié


Juan es Genética de la Asociación Española Síndrome de Cornelia de Lange (AESCdL)


ESTADOS UNIDOS
ESTADOS UNIDOS
ESTADOS UNIDOS

M.D. Natalie Blagowidow


Natalie es Gynecology, Genetics de la International Scientific Advisory Council (SAC), Medical Director, Genetics; Director, Prenatal Diagnostic Center; Medical Director, Clinical Cytogenetics a Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore

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.

 


POLONIA
POLONIA
POLONIA

Lekarz Ewa Maria Sokolewicz


Ewa Maria es Wspierający de la Stowarzyszenie Dzieci i Rodzin Cornelia de Lange Syndrom (CdLS) w Polsce

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


COLOMBIA
COLOMBIA
COLOMBIA

Dr. Alberto Velez


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


ALEMANIA
ALEMANIA
ALEMANIA

Prof. Dr. Frank Kaiser


Frank es (MD) Molecular Genetics de la International Scientific Advisory Council (SAC), Molekulare Genetik a Institut für Humangenetik, Universität Duisburg-Essen, Universitätsklinikum Essen, (MD) wissenschaftliche Beirat a Arbeitskreis Cornelia de Lange Syndrom e.V. 

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. 


COLOMBIA
COLOMBIA
COLOMBIA

Dr. Ignacio Zarante


Genetista. Presidente Asociación Colombiana de Médicos Genetistas


COLOMBIA
COLOMBIA
COLOMBIA

Dr. Fernando Suárez


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


ESPAÑA
ESPAÑA
ESPAÑA

Mr. Eduardo Brignani


Eduardo es Psicología de la Asociación Española Síndrome de Cornelia de Lange (AESCdL)

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


ESTADOS UNIDOS
ESTADOS UNIDOS
ESTADOS UNIDOS

M.D. Tonie Kline


Tonie es Clinical Genetics de la Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, Medical Director a CdLS Foundation USA, Our Staff, MD, Director of Pediatric Genetics, Harvey Institute for Human Genetics, a Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, Medical Director a International Scientific Advisory Council (SAC)

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. 


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Vivian Fernanda Jiménez​


Vivian Fernanda es Enfermera y magíster en enfermería de la Fundación CdLS COLOMBIA

Enfermera y magíster en enfermería de la Universidad de La Sabana, magíster en Enfermedades Raras de la Universidad de Valencia – España, Doctora en enfermería de la Universidad Nacional de Colombia.


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Carolina Cárdenas Vargas


Carolina es Especialista en Neuropsicología  de la Fundación CdLS COLOMBIA

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


PAÍSES BAJOS
PAÍSES BAJOS
PAÍSES BAJOS

Dr. Paul Mulder


Paul es Behaviour specialist de la International Scientific Advisory Council (SAC), SAC member a Vereniging Cornelia de Lange syndroom, Behaviour specialist a Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute

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.


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Sandra Yaneth Ospina


Sandra es Genetista Pediatra Catedrática de la Fundación CdLS COLOMBIA

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


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Mónica Patricia Eraso Paz


Ortodoncista.
Ortopedista Maxilar Directora y fundadora de Neurogénesis Fundation


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Erika Torres


Erika es Fonoaudióloga Maestría en Psicología de la Fundación CdLS COLOMBIA

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


REINO UNIDO
REINO UNIDO
REINO UNIDO

Dr. Peter Gillett


Peter es Gastroenterology de la Royal Hospital for Sick Children, Edinburgh, (MD) Gastroenterology a International Scientific Advisory Council (SAC)

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.


ESPAÑA
ESPAÑA
ESPAÑA

Dr. Feliciano Ramos


Feliciano es (DCC) Pediatra - Genetista Clínico  de la International Scientific Advisory Council (SAC), Pediatra - Genética Clínica a University Hospital Lozano Blesa in Zaragoza, Director medico, Genetica a Asociación Española Síndrome de Cornelia de Lange (AESCdL)

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.


PAÍSES BAJOS
PAÍSES BAJOS
PAÍSES BAJOS

Dr. Leonie Menke


Leonie es Developmental and Genetic Paediatrics de la International Scientific Advisory Council (SAC), Pediatra del desarrollo y genética y médico-científico a expertise centrum Cornelia de Lange syndroom, Member of SAC a Vereniging Cornelia de Lange syndroom

Tiene una amplia visión de trastornos como Cornelia de Lange, Marshall-Smith, Pitt-Hopkins, Rubinstein-Taybi, Malan y el síndrome de Menke-Hennekam. También coordina una clínica especializada en niños con síndrome de Marfan y trastornos afines.


DINAMARCA
DINAMARCA
DINAMARCA

Dr. Anne-Marie Bisgaard


Anne-Marie es Medical Director de la Cornelia de Lange foreningen, M.D. PhD a Kennedy Centre, Dept. of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup Paediatrics a International Scientific Advisory Council (SAC), Pædiatrik a University Hospital of Copenhagen

Anne-Marie is a consultant paediatrician specialising in child neurology and neurodevelopmental disorders. She works at the Centre for Rare Diseases and Centre for Rett syndrome at University Hospital of Copenhagen, Rigshospitalet.

She did her PhD within the clinical genetic area in 2007 (The phenotype of patients with submicroscopic chromosomal abnormalities and mental retardation. Description of new microdeletion syndromes.). Since then, her research focus has been on neurodevelopmental disorders, which in recent years mainly has been within Cornelia de Lange syndrome and Rett syndrome and related disorders. The focus is both on the molecular causes and mechanisms for disease and on clinical issues and how to manage these.  

Before then, Anne-Marie did her training at several paediatric departments in Copenhagen and Næstved and at the Epilepsy Hospital in Dianalund.


SUIZA
SUIZA
SUIZA

Dr. Armand Bottani


Armand es (MD) Genetics de la International Scientific Advisory Council (SAC), Conseiller scientifique a ASSOCIATION FRANÇAISE DU SYNDROME DE CORNELIA DE LANGE, Genetics a Institut Central des Hôpitaux - Hôpital du Valais, Sion

First trained as a paediatrician before specializing in medical genetics in Zürich and Geneva. Since his beginnings in this field, he always has had a special interest for rare disorders and the delineation of syndromes. From 1992 until 2018 he worked in the Service of Genetic Medicine at the Geneva University Hospitals, where his main activity was seeing children and adults with unclear conditions in order to try and find the cause of their problems. Since his part-retirement, he is now in charge of the consultations in the Service of Genetics of his hometown hospital. 



    

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