7th Sardinian International Summer School ‘From GWAS to function’

8th Sardinian International Summer School From Genomic discoveries to therapeutic targets

This course aims to analyze the current progress of human genetics in the search for genes involved in complex diseases and to apply new methodologies in different areas of genomic research.

Each day of the course will be a combination of lessons and practical tutorials. The course program is targeted to the transition from GWAS and genomic datasets to pathways, functional studies and therapeutic opportunities.

Starting from experimental design we will explore data analysis of genetic control of traits and their impact of functional information on variations. Contemporary GWAS combine data from multiple data sets to analyse millions of variants. Recent discoveries have led to clinical findings from diseases to anthropometric and behavioural traits, moving from the study of association to biological function.

The course will combine lectures and demonstrations with a strong emphasis on practical data analysis and active student participation. The focus will be on maximising interaction with teachers and creating useful contacts with other participants.

The workshops will use programming languages, applicable tools and web-based portals to analyze high-throughput genotyping and next generation sequencing datasets covering the different topics of the course (whole genome DNA, statistical methods for imputation, analysis of exomes, quantitative and qualitative analysis of the transcriptome and other related issues).

Prof. Francesco Cucca

Director of Genetic and Medical Research Institute, CNR, Cagliari, Italy
Professor of Medical Genetics at University of Sassari, Italy

Prof. Marcella Devoto

Professor at The Children’s Hospital of Philadelphia, Division of Human Genetics, USA
Associate Professor of Medical Genetics University of Rome La Sapienza, Italy

Prof. Giovanni Romeo

Director of the European School of Genetic Medicine – Bertinoro , Italy

Morning Lectures
08:30-9:00 Registration
09:00-10:00 Introduction to Population Genetics John Novembre (USA)
10:00-11:00 From GWAS to function: The example of the Sardinia founder population – Francesco Cucca (Italy)
11:00-11:30 Coffee break
11:30-12:30 Genome-wide Association Studies (GWAS) Lecture – Bertram Müller-Myhsok (Germany)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 Computational tools for Population Genetics Analysis – John Novembre (USA)
15:30-16:00 Coffee break
16:00-17:30 Tutorial on Genome-wide Association Studies (GWAS) – Bertram Müller-Myhsok (Germany)
Morning Lectures
09:00-10:00 Genetic effects on gene expression across human tissues – Stephen Montgomery (USA)
10:00-11:00 From genomics to multiomics – emerging systems medicine based approaches to precision medicine– Bertram Müller-Myhsok (Germany)
11:00-11:30 Coffee break
11:30-12:30 Inborn errors of immunity: lessons of applied genetics – Antonio Condino-Neto (Brasil)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 NGS variant calling – Carlo Sidore (Italy)
15:30-16:00 Coffee break
16:00-17:30 RNAseq analysis and eQTLs Catalog – Stephen Montgomery (USA)
Morning Lectures
09:00-10:00 Genetics to clinic in type 1 diabetes – John Todd (UK)
10:00-11:00 MS genetics – pitfalls and prospects – Stephen Sawcer (UK)
11:00-11:30 Coffee break
11:30-12:30 Student presentations
12:30-14:00 Lunch Break
Free Afternoon
Morning Lectures
09:00-10:00 Cohort-based whole genome sequencing in primary immune deficiency: a trip into genomic space – Ken Smith (UK)
10:00-11:00 Studying immunity at single-cell resolution – Kylie James (UK)
11:00-11:30 Coffee break
11:30-12:30 ImmunoAgeing: putting together the pieces – Eoin McKinney, (UK)
12:30-14:00 Lunch Break
Afternoon Workshops
14:00-15:30 Single cell Data Analysis – Kylie James (UK)
15:30-16:00 Coffee break
16:00-17:30 Poster Session
Morning Lectures
09:00-10:00 Rates of Aging and How They Vary Among Individuals– David Schlessinger (USA)
10:00-11:00 Noncoding RNAs in aging physiology and disease – Myriam Gorospe (USA)
11:00-11:30 Coffee break
11:30-12:30 Writing and peer-reviewing papers – Myles Axton (USA)
12:30-14:00 Lunch Break
Adjourn and Departure

This summer school is primarily designed for advanced pre-doctoral students, post-doctoral researchers from Biological and Health Sciences and/or other different backgrounds (including bioinformatics and mathematics) that wish to move into genomics field and quantitative methods for studying complex dynamics in biological systems.

Attendees should have as prerequisite background knowledge on most of the topics presented during the course.

The practical part will be performed both on the Linux command line and/or in R. Prior knowledge, skills and abilities to work in a Linux system are a prerequisite for attending the workshops.

Good spoken and written English is essential for all lectures and workshops.

Participants are asked to bring their laptop computers.

The course is funded by the Regional Sardinian government and will be free of charge for all attendees.

General Information

Previous editions