XII International Congress

Asociación Española Síndrome de Cornelia de Lange (AESCdL) , The World Federation of CdLS Support
33 supporters
Finished, Closed!


Why should I go to the Congress?


For those affected by the syndrome, first of all: because it is an opportunity to access consultation with national and international experts in the same venue. They are the ones who know the most about what happens to them on a daily basis. Know if any of your ailments and/or conditions have a solution, or failing that, a palliative. Know where Cornelia de Lange's research is in the world and what possibilities for a better future are presented to us, to improve the quality of life of our children and their families.


They are at the same time, in most cases, the caregivers; That is why we will try in this event: to help each other and with professionals to better understand: what happens to our children, why, how to help them, how to interpret their communication, no matter if it is verbal, gestural, signs, etc. We know that achieving “communication” is basic and essential for our children. May we families come out of this meeting strengthened in our daily tasks with a Cornelia and empowered not to feel that we are alone in this fight, that there are many of us who share the same problems daily; to be able to generate a bond that gives us “wings” and to be able to put together a great group to turn to when we need it.


Even if they are aware of the syndrome and its circumstances, they will also come out enriched from this International Meeting. They will all be able to talk together and from their different points of view, from Applied Science to Cornelia de Lange. As there are few people affected in the world, each person will have the opportunity in their area of ​​expertise; have more cases nearby than they could normally deal with in an entire professional life. Thus, they will know directly about the syndrome in our children, while at the same time they will be able to help us better. This involves us all: we will have more expert professionals, knowledgeable about our problems and we will contribute to the research being carried out on the disease.

Speakers and Supporters


Dr. Feliciano Ramos

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

Host and Organizer of the program


Dr. Juan Pié

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

He has numerous national and international publications, more than twenty competitive projects and has been an evaluator for AGAUR and a reviewer for numerous international journals. Recently, he has received accreditation in Human Genetics from the Spanish Association of Human Genetics and has been elected Full Academician by the Royal Academy of Medicine of Zaragoza.

The field of expertise focuses on the study of rare diseases with special interest in polymalformative syndromes such as Cornelia de Lange and Schuurs-Hoeijmakers.


M.D. Ian Krantz

Ian is Professor of Pediatrics and Genetics of the Children's Hospital of Philadelphia, Clinical Genetics at International Scientific Advisory Council (SAC), Professor of Pediatrics and Genetics at Perelman School of Medicine, University of Pennsylvania, Philadelphia

His research laboratory has focused on projects studying the molecular etiologies of Cornelia de Lange syndrome (CdLS), CHOPS syndrome, Pallister-Killian syndrome (PKS), Alagille syndrome, hearing loss, hernias congenital diaphragmatic and congenital heart defects. 

To this end, his laboratory has identified many new pathological genes, novel human disorders and has for the first time implicated many critical molecular pathways, such as Notch signaling, cohesin, and the superelongation complex, in human developmental disorders. 

From a translational point of view, it has been at the forefront of adapting new genomic technologies to the clinical environment.


Professor Ángel Carracedo Álvarez

President of the Kaertor Foundation (for early drug search), President of the INGADA Foundation (on care and study of ADHD and associated disorders), among others. He has published 8 books and more than 800 articles in international journals. Awards: King James I for research, Adelaide Medal, Galien Medal, Gold Medal of Galicia, among many others. Doctor Honoris Causa from several universities in Europe and America. 


Dr. Angelo Selicorni

Angelo is Paediatrics & Genetics of the International Scientific Advisory Council (SAC), MD, Director of Pediatric Unit at ASST Lariana Como, Coordinatore scientifico, pediatra e genetista.  at Ass. Naz. di Volontariato Cornelia De Lange ONLUS

Angelo Selicorni graduated in Medicine from the University of Milan. Specialized in Pediatrics and Medical Genetics. 

He is a clinical reference in case selection in a diagnostic assistance project for those affected by genetic RD.
He led the largest study on SMC1A loss-of-function variants. 

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Programme of the Conference

The programme will be constantly updated with more details about the Conference. 


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