Speakers and Supporters

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. Shokery Awallada


Endocrinólogo Pediatra


SPAIN
SPAIN
SPAIN

Dr. Juan Pie Juste


Juan is Genética of the Asociación Española Síndrome de Cornelia de Lange (AESCdL)


GERMANY
GERMANY
GERMANY

Prof. Dr. Frank Kaiser


Frank is (MD) Molecular Genetics of the International Scientific Advisory Council (SAC), Frank is Molekulare Genetik of the Universität Duisburg-Essen, Universitätsklinikum Essen, Frank is (MD) wissenschaftliche Beirat of the 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


Genetist. President of the Colombian Association of Medical Geneticists


COLOMBIA
COLOMBIA
COLOMBIA

Dr. Fernando Suárez


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


UNITED STATES
UNITED STATES
UNITED STATES

M.D. Tonie Kline


Tonie is Clinical Genetics of the Greater Baltimore Medical Center, Tonie is Medical Director of the CdLS Foundation USA, Contact Us, Tonie is MD, Director of Pediatric Genetics, Harvey Institute for Human Genetics, of the Greater Baltimore Medical Center, Tonie is Medical Director of the International Scientific Advisory Council (SAC)

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. 


SPAIN
SPAIN
SPAIN

Lic. Eduardo V. Brignani Pérez


Eduardo V. is Psicología of the Asociación Española Síndrome de Cornelia de Lange (AESCdL)

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


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Vivian Fernanda Jiménez​


Vivian Fernanda is Enfermera y magíster en enfermería of the 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 is Especialista en Neuropsicología  of the Fundación CdLS COLOMBIA

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


UNITED KINGDOM
UNITED KINGDOM
UNITED KINGDOM

Prof. Chris Oliver


Chris is Behavioural Psychology of the University of Birmingham, Chris is Behavioural Psychology of the International Scientific Advisory Council (SAC)

Chris is currently researching early intervention of behaviour disorders in people with severe intellectual disability and autism spectrum disorder, behavioural phenotypes in genetic syndromes and neuropsychological and behavioural assessment for people with severe intellectual disability. 

He is Professor of Neurodevelopmental Disorders and Director of the Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham.

He was trained as a clinical psychologist at Edinburgh University before completing a PhD on self-injurious behaviour in people with intellectual disability at the Institute of Psychiatry, London. 


NETHERLANDS
NETHERLANDS
NETHERLANDS

Dr. Paul Mulder


Paul is Behavioural Psychology of the International Scientific Advisory Council (SAC), Paul is SAC member of the Vereniging Cornelia de Lange syndroom, Paul is orthopedagoog of the Lentis Psychiatric Institute

Paul specialises in assessment of children and adults with severe and complex autism spectrum disorders, especially supportive communication, social-emotional functioning, sensory information processing and cognitive development in children and adolescents with autism spectrum disorders

He is behavioural specialist at Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute in Groningen. 

He did his PhD on "Cognition, self-injury and autism in Cornelia de Lange Syndrome: their mutual relationships and genetic background.” 


COLOMBIA
COLOMBIA
COLOMBIA

Dra. Sandra Yaneth Ospina


Sandra is Genetista Pediatra Catedrática of the 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 is Fonoaudióloga Maestría en Psicología of the 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.


UNITED KINGDOM
UNITED KINGDOM
UNITED KINGDOM

Dr. Peter Gillett


Peter is Gastroenterology of the Royal Hospital for Sick Children, Edinburgh, Peter is (MD) Gastroenterology of the International Scientific Advisory Council (SAC)

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.


SPAIN
SPAIN
SPAIN

Dr. Feliciano Ramos


Feliciano is (MD) Pediatrician - Clinical Genetics of the International Scientific Advisory Council (SAC), Feliciano is Pediatra - Genética Clínica of the University Hospital Lozano Blesa in Zaragoza, Feliciano is Director medico, Genetica of the Asociación Española Síndrome de Cornelia de Lange (AESCdL)

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. 


NETHERLANDS
NETHERLANDS
NETHERLANDS

MD PhD. Leonie Menke


Leonie is Developmental and Genetic Paediatrics of the International Scientific Advisory Council (SAC), Leonie is Developmental and Genetic Pediatrician and clinician-scientist of the expertise centre Cornelia de Lange syndrome, Leonie is Lid van de SAC of the Vereniging Cornelia de Lange syndroom

She leads the Amsterdam University expertise center for Developmental disorders at which medical care and follow-up is provided for children and adults with 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.


DENMARK
DENMARK
DENMARK

Dr. Anne-Marie Bisgaard


Anne-Marie is Medical Director of the Cornelia de Lange foreningen, Anne-Marie is Paediatrics of the International Scientific Advisory Council (SAC), Anne-Marie is Pædiatrik of the 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.


SWITZERLAND
SWITZERLAND
SWITZERLAND

Dr. Armand Bottani


Armand is (MD) Genetics of the International Scientific Advisory Council (SAC), Armand is Conseiller scientifique of the ASSOCIATION FRANCAISE DU SYNDROME DE CORNELIA DE LANGE, Armand is Genetics of the 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. 


POLAND
POLAND
POLAND

Prof. Dr. Jolanta Wierzba


Jolanta is Pediatria of the Medical University of Gdańsk, Jolanta is Dyrektor medyczny of the Stowarzyszenie Dzieci i Rodzin Cornelia de Lange Syndrom (CdLS) w Polsce, Jolanta is Paediatrics of the International Scientific Advisory Council (SAC)

Jolanta studies on the etiology, pathogenesis phenotype and improvement of the system of multidisciplinary, coordinated care of patients with rare diseases and is active on the international scientific cooperation in the field of genotype – phenotype correlation in Cornelia de Lange syndrome.

Member of the Polish Society of the Human Genetics (2018 vice President) since 2005.



    

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