speakers

University of Zaragoza, Medical School, Zaragoza, Spain

Host and Organizer of the program

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.

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.

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.

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. 

Katsuhiko Shirahige practices in Kawaguchi, Japan. He is an expert in the treatment of Roberts syndrome. He is also highly valued in 4 other conditions: Roberts Syndrome, Cornelia De Lange Syndrome, Phocomelia and Sirenomelia

Molecular etiology of Cornelia de Lange syndrome

The process of chromosome metabolism (chromosome replication, recombination, repair and partition) using genomic approaches. Molecular biology, Chromosome organization, function and segregation, Transcription, Gene and chromosome

Dr. Kline oversees the Clinical Advisory Board, the CdLS Clinic for Adolescents and Adults, the Ask the Expert program, the biennial Scientific Symposium, etc. for the CdLS Foundation USA.

She has participated in medical missions in Haiti and Senegal.

His interests focus on celiac disease, upper gastrointestinal and small intestine disorders, endoscopy and constipation and its treatment improved informatics, education, and engagement with colleagues and families to make holistic treatment more consistent and responsive.

He established the South East Scotland regional pediatric celiac service in 2001 and has been an advisor to Coeliac UK for over 10 years and sits on its Health Advisory Board. He was a member of the Scottish Government Group that developed the Gluten-Free Food Service and the NICE Celiac Disease NG20 group, was chair of the BSPGHAN Celiac Working Group and co-led the Scottish Government's Celiac Strategy which has resulted in a Optimal diagnosis and ongoing treatment for adults with CD.

His goal is to help improve the awareness of families and other healthcare professionals on issues specific to CdLS and generic gastrointestinal problems.

She completed her postgraduate training at Prinsenstichting and at the Erasmus University Medical Center Rotterdam. Her doctoral research “With the Body in Mind” dealt with self-injurious behavior in genetic syndromes, with special attention to Cornelia de Lange syndrome. In her research she demonstrates that a translational and transdisciplinary approach forms the basis for better understanding and treatment of functioning and behavior in genetic syndromes.

Coordinator of the European E-Rare research network “Target-CDLS”.

His main clinical and research interests are Rare Diseases, with special interest in Cornelia de Lange syndrome and clinically overlapping diseases. Since 2020 she is a speaker at the Center for Rare Diseases Essen, a central structure that combines multidisciplinary clinical disciplines and expertise to improve diagnosis, care and support for patients and families with rare diseases.

Dr. Musio is a leading researcher of the role of cohesin in rare human diseases, DNA repair and genome stability, and reported the first SMC1A mutations causing Cornelia de Lange syndrome. His research led to several key advances in understanding the molecular etiology of cohesinopathies.

Dr. Musio is a cellular and molecular biologist. His research interests focus on identifying and characterizing the molecular etiopathology of syndromic developmental disorders, such as Cornelia de Lange syndrome, Coffin-Siris syndrome, and mosaic variegated aneuploidy syndrome. To this end, his laboratory has identified new pathological genes and investigated the pathways altered in these diseases.

His laboratory is also interested in understanding the role of genomic instability and associated gene expression changes during cancer development. Dr. Musio's laboratory is committed to translating the results of his basic research to improve the early detection, prognosis and treatment of cancer.

Dr. Michel Pucèat practices in Marseille, France. 

His main areas of expertise are mitral valve prolapse, Roberts syndrome, cardiomyopathy and X-linked severe combined immunodeficiency.

Michel Pucèat is research director at INSERM. (French National Institute for Health and Medical Research  ) .

Inhibition of the TGFB pathway prevents short stature and heart defects in Nipbl-deficient mice, a mouse model of Cornelia de Lange syndrome

How can we jointly use molecular, cellular and computational approaches to better understand the behavior of endogenous stem cells during the development and regeneration of epithelia, particularly neural (sensory) epithelia? 

Can mouse and zebrafish models of Cornelia de Lange syndrome provide insight into the numerous structural and physiological disorders, also common in non-syndromic birth defects, that are associated with this human genetic disease? Of particular interest are heart defects, limb reduction defects, and neural pathologies.

Are the developmental phenotypes observed in birth defect disorders (e.g., heart defects, autism) the result of the combinatorial actions of small changes in the activities of many genes, rather than large changes in the activity of a single gene?

Will speak about non-coding genome where we do not yet know the impact of

She will tell us about research on what impact the NIBL mutation in combination with Mosaism has on brain development. Maybe we can one day predict the brain development.

Will speak about how we can make a model of the Cohesion Complex for better understanding of CdLS

Will guide us through the important topics that follow the fact that people with CdLS are also people with sexual feelings

Will talk about the Neurological problems in CdLS.

Will talk about special cases with CdLs she has observed in her long career.

Will speak about Behavioral and social problems in CdLS

Will speak of 'special' cases she has seen in her long career with CdLS

Family Psychotherapist, from the perspective of Existential-Humanistic Psychology.

Psychologist expert in Family, Disability and Rare or Infrequent Diseases.

Trainer of Trainers, he supervises cases and advises on problems related to his specialty, both at the institutional level and at the level of small work groups or individuals.

Co-creator and Coordinator of the “Psi+Di” Working Group of the Official College of Psychologists of Catalonia. Professionals specialized in Functional Diversity/Disability and Minority Diseases.
 

She will speak about the possibilities of Speech therapy for CdLS

He will tell us about how the Peripheral nervous system is involved in CdLS.

Will speak about the little known MAU2 gene

Will speak about one of the most important things with CdLS; Quality of life and comprehensive management of your loved one.

She will speak about Special molecular cases of CdLS.

She will speak about Parental and postzygotic mosaicism in CdLS

In my laboratory we study brain development, particularly the cerebral neocortex, our information processing center responsible for higher cognitive functions such as language, memory, and thinking. It is generated from a set of progenitor cells that will give rise to the neuronal and glial lineages of the adult brain. Its projection neurons are organized into six differentiable layers, which form from inside to outside, so that earlier-born neurons occupy deeper layers than later-born neurons.

The precise formation of neuronal circuits depends on the coordination of multiple processes, such as progenitor pool amplification, neuronal differentiation, and subtype specification. The alteration of these processes in development affects the formation of the neuronal network and has been related to various neurological disorders, such as epilepsy, schizophrenia, autism spectrum disorder (ASD) and intellectual disability.

We are especially interested in the transcriptional regulation of the cortical development program and in the consequences of disease-associated mutations in transcriptional regulators on the execution of this program. We studied the mechanistic effects of these genetic variants on the differentiation of human neuronal progenitors in vitro and on cortical development in mouse embryos and human brain organoids.

As year long chair of the Spanish Families she is making this conference possible

She has been instrumental in getting the conference to Spain.

Thanks to Andrea we have this information on our Website.