Sentences with phrase «in rare diseases research»

«I spent 2013 realizing that there really does seem to be a need to do a systematic model - organism approach in rare disease research,» he says.

Her dissertation focused on the roles of patient advocates in rare disease research policy.

The Orphanet Rare Disease Ontology (ORDO) and the Human Phenotype Ontology (HPO) are considered the most relevant ontologies to be used in the rare disease research and, more specifically, in RD - Connect.

The goal of IRDiRC is to team up researchers and funding organizations across the world that are strongly involved in rare diseases research in order to achieve two main and ambitious objectives: deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020.

Capitalizing on the momentum of progress made in rare diseases research over the past six years, the... Read more

Capitalizing on the momentum of progress made in rare diseases research over the past six years, the International Rare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcoming decade.

IRDiRC invests effort to disseminate the Policies and Guidelines as best practices in international rare diseases research, assesses their impact, and updates them, as needed, to reflect changing needs and relevancy in rare diseases research.

Funding organizations (i.e., funding bodies, groups of funders (for small funders), companies) investing more than 10 million USD over 5 years in rare disease research

Applying the latest available «multi-omics» methods in rare disease research experts aim to diagnose more cases.

In general, the growing participation of CNAG - CRG in rare disease research projects is clear in terms of samples sequenced; while during the period 2014/2015 the total number of processed samples related to rare diseases was of 523 in the period 2016/2017 the number of these samples increased to more than 1600.

The RD - Connect Genome - Phenome Analysis Platform is an online tool for diagnosis and gene discovery in rare disease research.

Ms. Parker has specialised in rare disease research and public health since 2000.

are considered the most relevant ontologies to be used in the rare disease research and, more specifically, in RD - Connect.

Given this scenario, the CNAG - CRG as one of the top genome centers in Europe, is getting more and more involved in rare disease research.