Medical Genetics is a week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today.

It provides an overall view of the clinical developments which are taking place in the major application fields of modern genetics in different medical specialties.

The topics covered in the present edition are: Introduction to Medical Genetics and Genome Analysis, Cytogenetics and Clinical Genetics, New Approaches in Medical Genetics, Complex Genetic Disorders and Neurogenetics, Therapy,  Technology, Epigenetics and Ethical Issues.

Han Brunner(Nijmegen, The Netherlands)

Giovanni Romeo (Bologna, Italy)

Brunhilde Wirth (Cologne, Germany).

Dian Donnai (Manchester, UK)

Josef Gecz (Adelaide, Australia)

Bernhard Horsthemke (Essen, Germany)

Nicholas Katsanis (Baltimore, USA)

Johannes Krause (Leipzig, Germany)

Bart Loeys (Ghent, Belgium)

Elena Maestrini (Bologna, Italy)

Andrew Read (Manchester, UK)

Olaf Riess ( Tuebingen, Germany)

Michael Speacher (Graz, Austria)

David Valle (Baltimore, USA)

Joris Veltman (Nijmegen, The Netherlands)

Sunday, May 23rd

Morning session: INTRODUCTION TO MEDICAL GENETICS AND GENOME ANALYSIS

08:30: G. Romeo, Overview of the course

09:00: D. Donnai, Medical Genetics today

09:45: A. Read, Process of disease gene discovery-monogenic disorders

10:30: Coffee break

11:00: H. Brunner, Genotypes and Phenotypes

11:45: J. Krause, The Neandertal Genome Project

12:30: Questions from students on morning lectures

13:00: Lunch break

Afternoon session: 14:30 - 18:00

Concurrent Workshops

Monday, May 24th

Morning session: CYTOGENETICS AND CLINICAL GENETICS

09:00: D. Donnai, Basic Concepts in Dysmorphology

09:45: M. Speicher, Cytogenetic Techniques

10:30: Coffee break

11:00: H. Brunner, Chromosomal Syndromes

11:45: J. Veltman, Next Generation Sequencing

12:30: Questions from students on morning lectures

13:00: Lunch break

Afternoon session: 14:30 - 18:00

Concurrent Workshops

Tuesday,  May 25th

Morning session: NEW APPROACHES IN MEDICAL GENETICS

09:00: B. Loeys

09:45: N. Katsanis, Ciliopathies and Zebrafish as model organism

10:30: Coffee break

11:00: J. Gecz, Capitalising on genomics to understand the genetics and biology of (primarily X-Linked) learning disability.

11:45: O. Riess, What can animal models teach us on the pathogenesis of neurodegenerative diseases?

12:30: Questions from students on morning lectures

13:00: Lunch break

Afternoon session: SIGHTSEEING TOUR

Wednesday, May 26th

Morning session: COMPLEX GENETIC DISORDERS AND NEUROGENETICS

09:00: E. Maestrini, Complex Traits

09:45: D. Valle, Schizophrenia

10:30: Coffee break

11:00: N. Katsanis, Genetic architecture of disease

11:45: O. Riess, Clinical and genetic complexity of movement disorders: Practical guide for diagnostics

12:30: Questions from students on morning lectures

13:00: Lunch break


Thursday, May 27th

Morning session: THERAPY

09:00: B. Wirth, Spinal Muscular atrophy: from gene to therapy

09:45: D. Valle, Evolution as a context for medicine

10:30: Coffee break

11:00: J. Gecz, ARX Spectrum Disorders

11:45: B. Horsthemke, Epigenetics

12:30: Questions from students on morning lectures

13:00: Lunch break

Afternoon session: 14:30 - 18:00

Concurrent Workshops

Friday, May 28th

Morning session:  EPIGENETICS, TECHNOLOGY AND ETHICAL ISSUES

09:00: B. Horsthemke, Epigenetics and disease

09:45: J. Veltman, Copy Number Variation

10:15: A. Read, Ethical Issues

10:45: Coffee break

11:15: General discussion with students as moderators.

13:00: Lunch break

Departure after lunch