Reuniões

XI-th World Conference

08-nov-2022 , 46 dias para começar. Dura até 13-nov-2022.
The World Federation of CdLS Support , Fundación CdLS COLOMBIA
25 apoiantes

    

To continue to educate the world in the management of orphan diseases such as Cornelia de lange and associated diagnoses.

Every life has a purpose

To contribute to the proper understanding of orphan diseases by shortening the pathways to early diagnosis. To be consistent with the motto of the event: "Every Life Has a Purpose".

We need experts!

To draw the attention of decision makers to strengthen the proposal for the  in Colombia of a Reference Centre for patients with Cornelia de Lange under the guidelines of Clinical Management for patients with Cdls.

We want to be seen!

To promote the construction of a Social Fabric that speaks of the culture of Inclusion and allows that Disability does not have barriers such as Bullying and rejection.



schedule


Oradores e Apoiantes

COLÔMBIA
COLÔMBIA
COLÔMBIA

Dr. Shokery Awallada


Endocrinólogo Pediatra


ALEMANHA
ALEMANHA
ALEMANHA

Prof. Dr. Frank Kaiser


Frank é (MD) Molecular Genetics da International Scientific Advisory Council (SAC), Frank é Molekulare Genetik da Universität Duisburg-Essen, Universitätsklinikum Essen, Frank é (MD) wissenschaftliche Beirat da 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. 


COLÔMBIA
COLÔMBIA
COLÔMBIA

Dr. Ignacio Zarante


Geneticista. Presidente da Associação Colombiana de Geneticistas Médico


COLÔMBIA
COLÔMBIA
COLÔMBIA

Dr. Fernando Suárez


Diretor do Instituto de Genética Humana da Universidade Javeriana e Geneticista do Instituto Roosevelt.


ESTADOS UNIDOS
ESTADOS UNIDOS
ESTADOS UNIDOS

M.D. Tonie Kline


Tonie é Clinical Genetics da Greater Baltimore Medical Center, Tonie é Medical Director da CdLS Foundation USA, Contact Us, Tonie é MD, Director of Pediatric Genetics, Harvey Institute for Human Genetics, da Greater Baltimore Medical Center, Tonie é Medical Director da 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. 


ESPANHA
ESPANHA
ESPANHA

Lic. Eduardo V. Brignani Pérez


Eduardo V. é Psicología da Asociación Española Síndrome de Cornelia de Lange (AESCdL)

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


COLÔMBIA
COLÔMBIA
COLÔMBIA

Dra. Carolina Cárdenas Vargas


Carolina é Especialista en Neuropsicología  da Fundación CdLS COLOMBIA

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


REINO UNIDO
REINO UNIDO
REINO UNIDO

Prof. Chris Oliver


Chris é Behavioural Psychology da University of Birmingham, Chris é Behavioural Psychology da 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. 


PAÍSES BAIXOS
PAÍSES BAIXOS
PAÍSES BAIXOS

Dr. Paul Mulder


Paul é Behavioural Psychology da International Scientific Advisory Council (SAC), Paul é SAC member da Vereniging Cornelia de Lange syndroom, Paul é orthopedagoog da 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.” 


COLÔMBIA
COLÔMBIA
COLÔMBIA

Dra. Sandra Yaneth Ospina


Sandra é Genetista Pediatra Catedrática da Fundación CdLS COLOMBIA

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


COLÔMBIA
COLÔMBIA
COLÔMBIA

Dra. Erika Torres


Erika é Fonoaudióloga Maestría en Psicología da 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 é Gastroenterology da Royal Hospital for Sick Children, Edinburgh, Peter é (MD) Gastroenterology da 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.


ESPANHA
ESPANHA
ESPANHA

Dr. Feliciano Ramos


Feliciano é (MD) Pediatrician - Clinical Genetics da International Scientific Advisory Council (SAC), Feliciano é Pediatra - Genética Clínica da University Hospital Lozano Blesa in Zaragoza, Feliciano é Director medico, Genetica da 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. 



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A nossa visão

3 RAZONES PARA...

Invitación para asistir al XI Congreso Mundial de CdLS en Bogotá, Colombia.

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