Sentences with phrase «rare disease research»

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

Selected platforms, tools, standards, and guidelines must be of fundamental importance to the international rare diseases research and development community.

In addition to discussing the impact of the tool on rare disease research, the paper also explains how it works and is supplemented by two video tutorials.

Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into 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.

Data sharing is also critical for rare disease research.

The label highlights resources of fundamental importance to the international rare diseases research and development community.

You will find here the information about the opportunities of rare diseases research funding at the national level in «National RD funding initiatives» and «Next generation sequencing facilities database» that groups sequencing platforms from Europe and Associated countires.

Next to performing Joint Transnational Calls and assessment of the funding mechanisms and results of the funded research projects the E-Rare-1 and E-Rare-2 programmes paid attention to deepening the cooperation and coordination among the E-Rare partners by systematic exchange of information on the national programmes and by strategic activities aimed at a sustainable development and extension of the network of rare disease research funders.

As Director of OPHG, Prof. Dawkins is the nominated Australian contact for Orphanet and for the International Rare Disease Research Consortium (IRDiRC).

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

Earlier this year, Paolo Martini, who heads rare disease research at the closely scrutinized biotech company Moderna Therapeutics in Cambridge, Massachusetts, visited the Middle East.

Dr Daria Julkowska, E-Rare coordinator discusses the importance of rare diseases research with Gary Finnegan, the journalist of Horizon, The EU Research & Innovation Magazine.

Penn Medicine's Orphan Disease Center will host its fifth annual Million Dollar Bike Ride, where cycling teams that raise money for rare disease research challenge themselves to ride 13, 34, or 72 miles across the Philadelphia area.

The Policies and Guidelines, ratified by IRDiRC members for implementation in their respective rare disease research programs, are structured around 11 major topics: data sharing and standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural histories, therapeutics, model systems, publication and intellectual property, and communications.

IRDiRC looks forward to welcoming more members, in particular from regions that are currently under - represented, ensuring their vital voice, experience and input are integrated into global rare diseases research agenda, bringing diagnostics and therapies to patients globally.

EURenOmics is collaborating with E-Rare, a consortium built to link responsible funding bodies that combine the scarce resources and fund rare disease research via Joint Transnational Calls.

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.

Members of the EUCERD group will be involved in identifying rare disease research needs.

Leila's research interests include rare disease research ethics and the regulation of new technologies in healthcare and public health.

Since 2006, E-Rare has become one of the major contributors to transnational rare diseases research funding.

In the last five years, major advances in genomic technology, especially in sequencing whole genomes and whole exomes (the portion of the genome that codes for proteins), have given rare disease research an important boost.

In line with the objectives of the International Rare Disease Research Consortium (IRDiRC), we aim to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney diseases.

It has leveraged funding for rare disease research in countries without specific programmes for rare diseases and thus enabled the participation of researchers in these countries to transnational projects.

The current E-Rare-3 project will extend and strengthen the transnational cooperation on rare disease research funding organizations in the 5 - year period of 2015 - 2019 by building on the experience and results of the previous ERA - Net programmes E-Rare-1 and E-Rare-2.

The Rare Revolution Magazine has published an article highlighting the work of RD - Connect towards advancing rare disease research, diagnosis and therapy development to improve the quality of life of patients with rare diseases.

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.

Penn Medicine has been at the forefront of rare disease research for decades, and these efforts — as well as many of its other research and clinical milestones — are being honored this year as part of the Perelman School of Medicine's 250th anniversary celebration.

The centers also plan to join the International Rare Disease Research Consortium, whose goal is to develop diagnoses of most rare diseases and treatments for about 200 disorders by 2020.

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.

Stoke Therapeutics Expands Leadership Team, Building on Deep Expertise in Oligonucleotide Chemistry and Rare Disease Research and Development

The team at UF's Powell Center for Rare Disease Research and Therapy conducted the first in - human study of gene therapy to treat respiratory dysfunction in patients with infantile onset Pompe.

NIH also now wants NCATS to house its $ 18 million Office of Rare Disease Research.

Co-founded by university hospitals, research organizations and patients» organizations, it acts as a strategic hub to coordinate, federate and fund rare diseases research.

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.

INFRAFRONTIER, provider of resources and services for rare diseases research, strongly supports the EURORDIS campaign.

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.

European Journal of Human Genetics has published a key publication describing the achievements of three flagship EU - funded projects — RD - Connect, NeurOmics and EURenOmics — and how they are shaping the rare disease research environment in Europe and globally.

Additionally, IRDiRC also published articles on its Policies and Guidelines, A Global Approach to Rare Diseases Research and Orphan Products Development, International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases, and the position statement of the Patient - Centered Outcome Measures Task Force, while contributed to some others, as on the importance of international collaboration for 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

The Fondation maladies rares is a unique cooperative framework dedicated to rare diseases research.

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

Andreas Roos, University of Newcastle - RD - Connect: Data sharing and analysis for rare disease research

IRDiRC has distinguished this tool for its fundamental importance to the international rare diseases research and development community.

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.