The Course in Clinical Genomics and NGS jointly organised by the European School of Genetic Medicine (ESGM) and the European Society of Human Genetics (ESHG), is being webcast from the University Residential Centre of the University of Bologna from 29 April to 4 May 2018.
This course is intended for clinicians and clinical laboratory specialists and for PhD or postdoc trainee scientists, who want to learn about Clinical Genomics in the era of NGS. Starting from the basic notions of medical genetics and bioinformatics covered during the first two days, the course will offer a more specialised training in the following four days.
Participants from Malta are able to attend the live webcast course at the Malta Remote Training Centre (RTC) based at the Medical School Conference Room, Mater Dei Hospital. Participants will be eligible for local CME accreditation; those attending 75% or more of the course are also eligible for a certificate of attendance issued from the ESGM. Attendance on the 29 April is compulsory.
Those interested in attending the course are requested to send an email to the Malta RTC Director Dr Isabella Borg, by 26 April. Late applications will not be accepted.
Registration fee: The Department of Pathology at the University of Malta is sponsoring the course and hence attendance is free.
Closing date for registration: 26 April. Late applications will not be accepted.
Directors:
Han Brunner (Nijmegen and Maastricht, the Netherlands); Christian Gilissen (Nijmegen, the Netherlands); Alexander Hoischen (Nijmegen, the Netherlands); Tommaso Pippucci (Bologna, Italy); Giovanni Romeo (Bologna, Italy); Brunhilde Wirth (Cologne, Germany)
Faculty:
John Burn (Newcastle, UK); Dian Donnai (Manchester, UK); Evan E Eichler (Seattle, USA); David Fitzpatrick (Edinburgh, UK); Lude Franke (Groningen, the Netherlands); Luis Galietta (Naples, Italy); Giovanni Germano (Milan, Italy); Eva Klopocki (Wurzburg, Germany); Michael Nothnagel (Cologne, Germany); Tobias Rausch (Heidelberg, Germany); Andrew Read (Manchester, UK); Augusto Rendon (Cambridge, UK); Lea Starita (Seattle, USA); Karen Temple (Southampton, UK); Thierry Voet (Leuven, Belgium).
Course Programme
Sunday 29 April
Medical Genetics concepts and principles
9:00 β 9:15 Introduction to the course β G. Romeo
9:15 β 10:00 Genomic Medicine β D. Donnai
10:00 β 10:45 Phenotype to genotype β H. Brunner
10:45 β 11:00 Coffee break
11:00 β 11:45 Cytogenetics and arrays β E. Klopocki
11:45 β 12:30 Complex disorders and classical gene identification β A. Read
12:30 β 13:15 Discussion of the morning lectures
Monday 30 April
Basics of NGS for Mendelian disorders
09:00 β 09:45 Basics of next generation sequencing technology β A. Hoischen
09:45 β 10:30 Basics of NGS bioinformatics β C. Gilissen
10:30 β 11:00 Coffee break
11:00 β 11:45 NGS in the clinic β H. Brunner
11:45 β 12:30 Long-read sequencing β E. Eichler
12:30 β 13:15 Discussion of the morning lectures
Tuesday 1 May
Therapy in the NGS era
09:00 β 09:45 Therapy and cancer β J. Burn
09:45 β 10:30 Novel Cancer immunotherapy approach β G. Germano
10:30 β 11:00 Coffee break
11:00 β 11:45 SMA: From gene and modifier to therapy β B. Wirth
11:45 β 12:30 The therapy for cystic fibrosis as a paradigm for other genetic diseases β L. Galietta
12:30 β 13:15 Discussion of the morning lectures
Wednesday 2 May
Complex mechanisms of disease
09:00 β 09:45 Molecular inversion probes and mosaicism β A. Hoischen
09.45 β 10:30 Epigenetics, imprinting, clinical β K. Temple
10:30 β 11:00 Coffee break
11:00 β 11.45 Non-coding mutations/long-range effects β E. Klopocki
11:45 β 12:30 Massively parallel functional assays β L. Starita
12:30 β 13:15 Discussion of the morning lectures
Thursday 3 May
Novel NGS applications
09:00 β 09:45 Discovering structural variants in cancer using NGS data - T. Rausch
09:45 β 10:30 Phenotype and NGS integration/HPO benefits β D. Fitzpatrick
10:30 β 11:00 Coffee break
11:00 β 11:45 GWAS with NGS β Michael Nothnagel
11:45 β 12:30 Data integration β L. Franke
12:30 β 13:15 Discussion of the morning lectures
Friday 4 May
Large scale NGS
09:00 β 09:45 Patterns of rare variation contributing to disease - K. Samocha
09:45 β 10:30 Genomics England β A. Rendon
10:30 β 11:00 Coffee break
11:00 β 11:45 Non-invasive prenatal testing β J. Weiss
11:45 β 12:30 Single cell sequencing and applications to PGD β T. Voet
12:30 β 13:15 Discussion of the morning lectures