Sunday, May, 4th. Introduction to
Genetic Analysis
Morning Session
- 08:30 V.A. McKusick. Medical genetics and genomics: a personal 60-year overview.
- 09:40 D. Donnai. Medical Genetics today.
- 10.30 Coffee Break.
- 11:00 E. Maestrini. Linkage analysis.
- 11:45 H. Brunner. Genotypes and Phenotypes.
- 12:00 Questions from students on morning lectures.
- 12.30 Lunch break.
Afternoon Session
- 14:30 TALLERES EN EL CSA.
- 16:00 Coffe Break
- 16:30 TALLERES EN EL CSA.
Monday, May 5th. Clinical Genetics
and Cytogenetics
Morning Session
- 08:30 A. Read. Basic concepts in populaion genetics.
- 09:30 D. Donnai. Basic concepts in Dysmorphology and Syndrome classification.
- 10:15 Coffee Break.
- 10:45 M. Speicher. Development of technologies for the new cytogenetics.
- 11:30 H. Brunner. Chromosomal syndromes.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Afternoon Session
- 14:30 TALLERES EN EL CSA.
- 16:00 Coffe Break
- 16:30 TALLERES EN EL CSA.
Tuesday, May 6th. From clinical observations
to the lab
Morning Session
- 08:30 E. Jabs. t.b.d.
- 09:30 N. Katsanis. Dissecting oligogenic traits.
- 10:15 Coffee Break.
- 10:45 H. Brunner. Network of genes.
- 11:30 N. Katsanis. Cilia as primary environmental sensors. Implications to genetic disease.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Afternoon Session
- 14:30 TALLERES EN EL CSA.
- 16:00 Coffe Break
- 16:30 TALLERES EN EL CSA.
Wednesday, May 7th. Translational research
in genetics
Morning Session
- 08:30 D. Wallace. A Mitochondrial Paradigm for Degenerative Diseases, Cancer and Aging: A Dawn for Evolutionary medicine.
- 09:30 V. Carelli. Optic nerve degeneration: a mitochondrial disease of two genomes.
- 10.30 Coffee Break.
- 11:00 A. Spinazzola. Disorders of nuclear-mitochondrial intergenomic communication.
- 11:45 G. Romeo. Mithocondria and Cancer.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Afternoon Session
- Free Afternoon
Thursday, May 8th. System Biology
and Animal Models
Morning Session
- 08:30 A. Read. Interpreting DNA lab results.
- 09:30 D. Monckton. Myotonic dystrophy: simple repeats in complex disorders.
- 10.15 Coffee Break.
- 10:45 D. Monckton. Unstable DNA and human disease (covering molecular genetics and molecular pathology of the other repeat expansion disorders including Huntington disease and fragile X syndrome).
- 11:30 E. Jabs. Developmental genetics and animal model systems.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Afternoon Session
- 14:30 TALLERES EN EL CSA.
- 16:00 Coffe Break
- 16:30 TALLERES EN EL CSA.
Friday, May 9th. Neurogenetics
Morning Session
- 08:30 G. J. Van Ommen. Induced splicing of the dystrophin gene.
- 09:30 B. Wirth. Spinal muscular atrophy: from gene to therapy.
- 10.15 Coffee Break.
- 10:45 M. Macek, Jr. Cystic fibrosis: a model disorder for molecular pathogenesis and mutation specific therapies.
- 11:30 L. Greco. Coeliac disease.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Afternoon Session
- 14:30 TALLERES EN EL CSA.
- 16:00 Coffe Break
- 16:30 TALLERES EN EL CSA.
Saturday, May 10th. Diabetes as a model
complex genetic disorder
Morning Session
- 08:30 J. Bertranpetit. How many gaps are we missing to understand the genetic bases of complex diseases? A biomedical approach.
- 09:30 T. Meitinger. Mapping quantitative traits in humans.
- 10:15.- Coffee Break.
- 10:45 M. Netea. Migration drives evolution of innate immune system.
- 11:30 S. Desiderio. Genome plasticity in the developing immune system.
- 12:15 Questions from students on morning lectures.
- 13.00 Lunch break.
Departure: in the early
afternoon
- José Francisco Martín: Análisis de ligamiento con ordenador.
- José Francisco Martín: Algunos ejemplos de análisis estadístico con lápiz y papel.
- Ignacio del Castillo: Genética de los trastornos de la audición.
- Rogelio González: RNA y enfermedad.
- Ignacio del Castillo: Diagnóstico molecular de trastornos con alta heterogeneidad genética: el caso de las sorderas hereditarias.
- Rogelio González: Un gen, varios fenotipos.
- Mª José Trujillo / Isabel Lorda: Esterilidad e infertilidad: ejemplo de estudio multidisciplinar.
- Marta Rodríguez de Alba: Diagnóstico prenatal no invasivo en células fetales y ADN fetal procedente de sangre materna.
- Mª José Trujillo: Estrategias diagnósticas con técnicas moleculares. Enfermedad de Huntington como modelo.
- Isabel Lorda / Marta Rodríguez de Alba: Técnicas citogenético-moleculares en la resolución de problemas diagnósticos.
- Carmen Ayuso: Aproximación al estudio de las enfermedades oculares.
- Carmen Ramos: Repercusión de las translocaciones cromosómicas.
- Carmen Ayuso: Consejo Genético y enfermedades del adulto.
- Carmen Ramos: Diagnóstico prenatal: estrategias y problemas.
- Mercedes Durán: Genética del cáncer. Cáncer de mama y cáncer de colon.
- Isabel Fernández: Avances en el Síndrome X Frágil.
- Mª Jesús Alonso: Fibrosis quística y fenotipos asociados. Consejo genético.
- Eladio Velasco: Splicing y enfermedad.
