Lecture series Translational Bioinformatics and Systems Biomedicine "THE DisGeNET KNOWLEDGE MANAGEMENT PLATFORM FOR DISEASE GENOMICS" - Dr Laura Furlong

13/02/2019 16:00 to 13/02/2019 18:00 (Europe/Luxembourg)

Esch-sur-Alzette, Luxembourg

Speaker

Dr Laura Furlong is Head of the Integrative Biomedical Informatics Group, Associate Professor at UPF Research Programme on Biomedical Informatics (GRIB),  Hospital del Mar Medical Research Institute (IMIM) DCEXS, Pompeu Fabra University (UPF), Spain.

 

Abstract

In the last few decades, our knowledge about the genetic underpinnings of human diseases has grown at an unprecedented pace. Advances in sequencing technologies have made it possible to catalog a large volume of genetic alterations found in patients for a broad spectrum of diseases.
Data resulting from GWAS studies, experiments in animal models of disease, and from NGS sequencing pipelines are publicly available, but scattered across different repositories. Furthermore, accessing, navigating and analyzing this information is a challenge due to its heterogeneity and lack of standardization. To enable translation of this wealth of knowledge into better disease biomarkers and drug therapies, this data should be made readily available to researchers and clinicians. The DisGeNET knowledge platform aims to support translational applications by providing a unified catalog of disease associated genes and variants, along with a suite of tools to exploit this information. I will present some of the hurdles we face in structuring the knowledge of human diseases, such as the prevalence of data silos in biomedicine, limitations of current ontologies, the need of data prioritization strategies, and the key role of text mining for extraction of knowledge from the literature. Examples of application of DisGeNET data in the area of drug discovery and disease genomics will be presented. Finally, the importance of building an ecosystem of linked data in biomedicine to support translational research will be presented.

DOWNLOAD POSTER

schedule

16.00 - 17.00: LECTURE

University of Luxembourg

Maison du Savoir

Room N°2.380

17.00 - 18.00: 'meet THE SPEAKER'

University of Luxembourg

Maison du Savoir

Room N°2.390


Registration required for the 'Meet the Speaker' - send us an email

programme 2019

About the Lecture & Workshop series - TRANSLATIONAL BIOINFORMATICS AND SYSTEMS BIOMEDICINE

The LIH lecture and workshops series in Translational Bioinformatics and Systems Biomedicine, supported by the FNR and jointly organized with the University of Luxembourg, are gathering internationally recognised speakers to address topics around Translational Bioinformatics and Systems Biomedicine.  Please find here  the current programme for 2019.

This lecture will be followed by a workshop especially dedicated to early-stage researchers.

Attendance to the lecture and workshop are free of charge. Should you be interested in registering for the workshop, please feel free to do so by sending us an email.

Where

Maison du Savoir
    2, Avenue de l'Université
    Esch-sur-Alzette L-4365
    Luxembourg

When

From 13/02/2019 16:00
To 13/02/2019 18:00

Contact

Luxembourg Institute of Health
odoo@lih.lu