speakers

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.

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

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.

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.

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.

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. 

Genetist. President of the Colombian Association of Medical Geneticists

Director of the Institute of Human Genetics of the Javeriana University and Geneticist of the Roosevelt Institute.

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

Tonie's areas of expertise include evaluation of multiple birth defects and/or developmental issues and interpretation of clinical testing results. 

She received her medical degree and postdoctoral training in medical genetics from Jefferson Medical College, Philadelphia, PA., and clinical cytogenetics and molecular training at the Johns Hopkins University School of Medicine, Baltimore, Md. 

She is also a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics. 

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.

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

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

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.

Ortodoncista.
Ortopedista Maxilar Directora y fundadora de Neurogénesis Fundation

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

Peter's training was in Newcastle and Edinburgh and the Children’s Hospital in Vancouver and took up his current post in 2001. His interests are coeliac disease, upper GI and small bowel disorders, endoscopy and constipation and its improved management, informatics, education and engagement with colleagues and families to make holistic management more consistent and responsive.

He established the SE Scotland regional paediatric coeliac service in 2001 and has been an Advisor to Coeliac UK for over 10 years and sits on their Health Advisory Council. He was a member of the Scottish Government Group developing the Gluten-Free Food Service and was a member of the NICE Coeliac Disease NG20 group, currently chairs the BSPGHAN Coeliac working group and co-leads the Scottish Government new coeliac strategy which aims to provide optimal diagnostics and ongoing management for patients with CdLS.

He is a Paediatrician and Clinical Geneticist (ABMG-USA Certified) working at the University Hospital “Lozano Blesa” in Zaragoza, Spain, were he is the Chief of the Unit of Clinical Genetics at the Service of Paediatrics. He is Full Professor of Paediatrics and the Chairman of the Department of Paediatrics at the University of Zaragoza Medical School. He has been working in CdLS since 2004. He is the Coordinator of Spain´s National Reference Center in CdLS. 

Leonie is a developmental and genetic pediatrician at the Department of Pediatrics at Emma Children's Hospital / Amsterdam University Medical Centers.
She is head of the Dutch Federation of developmental and genetic pediatricians.

She has a broad view on disorders such as Cornelia de Lange, Marshall-Smith, Pitt-Hopkins, Rubinstein-Taybi, Malan, and Menke-Hennekam syndrome. She also coordinates an expert clinic for children with Marfan syndrome and related disorders.

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.

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.