EURORDIS Intimate Audrey Exhibition
From 02 November 2019 to 01 February 2020
At : Amsterdam, Holland
Events
Digitalisation and Infectious Diseases: Improving patient outcome in the age of big data
From 21 to 22 January 2020
At : Basel, Switzerland
EURO-NMD webinar on Clinical evaluation of dystonia
On 05 February 2020
At : London-United Kingdom
RE(ACT) Congress and IRDiRC Conference 2020
From 12 to 15 March 2020
At : Berlin, Germany
This joint event will continue the RE(ACT) Congress series (6th edition) and IRDiRC Conference series (4th edition). It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organisations, who are committed to research, will also be in attendance to share their experiences and perspectives.
Human Genome Meeting 2020
From 06 to 09 April 2020
At : Perth, Australia
EJP RD training on strategies to foster solutions of undiagnosed rare disease cases
From 28 to 30 April 2020
At : Roma-Italy
The 10th European Conference on Rare Diseases and Orphan Products
From 16 to 17 May 2020
At : Stockholm, Sweden
European Conference on the Diffusion of Genomic Medicine: Health Economics and Policy
From 29 to 30 May 2020
At : Dijon-France
EURORDIS Summer School 2020
From 09 to 13 June 2020
At : Barcelona, Spain
3rd EURO-NMD translational Research Summer School, edition 2020
From 07 to 11 July 2020
At : Lieden - Netherlands
International Congress of Human Genetics (ICHG)
From 08 to 11 March 2021
At : Cape Town - South Africa
Courses
8th Rare Diseases Summer School
From 16 to 18 July 2020
At : Warth - Switzerland
Media
SCN2A Australia launches new podcast focusing on rare diseases and genetic epilepsy
SCN2A Australia launched a new podcast that focused on all things SCN2A related and genetic epilepsy. Although many of the episodes will focus on SCN2A, there will be, however, other episodes that will be focusing to rare disease and genetic epilepsy in general.
- To read more about “Listen to the podcast”
A book on Precision Medicine for Investigators, Practitioners and providers
The book addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included.
The chapter 14 on “pediatric genomics and precision medicine in childhood” focuses on the fact that the biological fundamentals of precision medicine are genetic individuality and genetic variation, which affect an individual's way of interacting with the environment, of getting sick, and of responding to therapeutic agents and medicines. The analysis of the genome in pediatrics by next generation sequencing allows diagnosis to be reached in a large number of patients in all pediatric clinical disciplines, such as neurodevelopmental disorders, pediatric cancer, and rare and undiagnosed diseases. In addition, pediatric genomics opens up new paths to personalised advanced therapies, and the integration of other omics to the management and care of children and adolescents.