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Autism Spectrum Disorders: From the gene to the disorder

Life and Matter Sciences International Symposium Thursday and Friday, November 14 and 15, 2019 9:30 hours Santiago de Compostela, La Coruña

General information:

Venue: Campus Vida, Avda. Dr. Ángel Echeverri, s/n, 15782 Santiago de Compostela, La Coruña..

Free admission. Limited capacity.

Organized by:

Fundación Ramón Areces

In cooperation with:

Centro de Investigación Biomédica en Red de Enfermedades Raras. CIBERER

Coordinator/s:

Ángel Carracedo

Description
Programme

The estimated prevalence of Autism Spectrum Disorders (ASD) has dramatically increased in recent years with what used to be a rare disorder now being a prevalence of one in 59 children aged 8 years according to CDC (Center for Disease Control and Prevention) or 1% in Europe, with males being about three times more likely than females to be affected. Not only the huge increase in incidence and prevalence has changed the field of ASD, but also a revolution in the knowledge of the genetic background of the disorder.

ASD are, predominantly. genetic disorders, where common variation is key but where genetic analysis allow for the identification of around 25% of cases. This means to subdivide a common disorder in a bunch of rare diseases of the neurodevelopment.

Genetic diagnosis is essential for a proper genetic counselling, to predict and to anticipate co-morbilities and to progress in personalized medicine and treatments.

However, there are many challenges in the field such as the lack of equal access to genetic diagnosis or the lack of clear diagnosis algorithms. It is also important to make progresses in a phenotype-genotype correlation.

All these aspects will be discussed in in this symposium which consists in two differentiated section. One devoted to the understanding of the genetic background of the disease, the second to discuss genotype-phenotype correlation with a more clinical perspective.

The symposium is open to student of biomedical areas, expert or a general audience interested in ASD.

Thursday, November 14

9:00 h.

Attendee check-in

9:30 h.

Welcome

José María Medina
Vicepresidente del Consejo Científico de la Fundación Ramón Areces.

Ángel Carracedo
Director de la Fundación Pública Gallega de Medicina Genómica-SERGAS. Universidad de Santiago de Compostela y Fundación Pública Galega de Medicina Xenómica, SERGAS. Coordinador del simposio.

Carlos Diéguez
Catedrático de Fisiología, Universidad de Santiago de Compostela y Director científico del Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS).

Session 1: Genetics of ASD

9:45 h.

Diagnosis of rare diseases: current situation in Spain and the CIBERER role

Pablo Lapunzina
Director del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).

10:30 h.

Genetic diagnosis of neurodevelopmental disorders

Ángel Carracedo
Director de la Fundación Pública Gallega de Medicina Genómica-SERGAS. Universidad de Santiago de Compostela y Fundación Pública Galega de Medicina Xenómica, SERGAS.

11:15 h.

Break

11:45 h.

Epigenetics of autism: Where genetics meets environment

Bru Cormand
Profesor del Departamento de Genética de la Facultad de Biología, Universidad de Barcelona.

12:30 h.

Genetics of ASD: the role of de novo mutations (DNMs)

Cristina Rodríguez
Investigadora postdoctoral. CIMUS- Centro de Investigación en Medicina Molecular y Enfermedades Crónicas. Universidad de Santiago de Compostela.

13:15 h.

Polygenic risk scores in ASD comorbities

Javier González-Peñas
Investigador postdoctoral. Departamento de Psiquiatría, Hospital General Universitario Gregorio Marañón, Madrid.

14:00 h.

Discussion

14:30 h.

Break

16:30 h.

Genetic diagnosis of neurodevelopmental disorders

Francisco Barros Angueira
Jefe de Laboratorio de la Fundación Pública Galega de Medicina Xenómica. SERGAS.

17:15 h.

Pharmacogenetics in psichiatry

María Jesús Arranz
Directora del laboratorio de investigación de la Fundación Docencia e Investigación Mutua Terrassa.

18:00 h.

Syndromic ASD: clinical and diagnostic aspects

Jesús Eirís
Especialista en Neuropediatría. CHUS. SERGAS.

Friday, November 15

Session 2: An integrated approach to ASD

8:40 h.

Attendee check-in

9:15 h.

Filling the gap: understanding biology from behaviours

Mara Parellada
Investigadora del CIBERSAM y adjunta de Psiquiatría en el Servicio de Psiquiatría del Niño y del Adolescente del Hospital General Universitario Gregorio Marañón de Madrid.

10:00 h.

Social Behavior in ASD: a combined behavioral and neuroimaging approach

Adriana Soares Sampaio
Investigadora. Psychological Neuroscience Lab, CiPsi, Department of Basic Psychology, School of Psychology, University of Minho, Portugal. Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS).

10:45 h.

Mind Wandering and Neurodevelopmental Disorders: From Folk Physics to Folk

Oscar Filipe Coelho Neves Gonçalves
Investigador. Psychological Neuroscience Lab, CiPsi, Department of Basic Psychology, School of Psychology, University of Minho, Portugal.

11:15 h.

Break

11:45 h.

Touch Processing in Autism Spectrum Disorders

Montserrat Fernández-Prieto
Investigadora. Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS). Universidad de Santiago de Compostela.

12:30 h.