Quality assurance, variant interpretation and data management in the NGS diagnostic era, 12-14 October 2020.

Application deadline: 20 July 2020

More information from the EJP RD here.

 

The European Joint Programme on Rare Diseases (EJP RD) has published the pre-announcement for the Joint Transnational Call 2020. This call is for proposals on "Pre-Clinical Research to Develop Effective Therapies for Rare Diseases".

For more information please visit the EJP RD website: http://www.ejprarediseases.org/index.php/joint-transnational-calls/

Rare Disease Day 2020 will be celebrated this year on Saturday the 29th of February - a fittingly rare date! Coordinated by EURORDIS in partnership with National Alliances, the aim is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. Lead-up events throughout the month will be organised by members of the rare disease community including patient organisations, healthcare professionals, researchers, and policymakers across 101 countries.

Rare diseases will affect 1 in 20 people in their lifetime, but their rarity often leads to delays in diagnosis, and means that information and treatment options can be limited. Rare Disease Day is an opportunity to strengthen international cooperation, vital for identifying and classifying these diseases, coordinating research, and providing access to treatment and support for patients, their families, and carers.

For more information, go to the Rare Disease Day 2020 website.

 

The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established by Solve-RD – an EU-funded research project. The overall aim is to boost research in rare diseases, discover new disease-causing genes and obtain evidence for pathogenicity through functional validation.

For more information, visit the following website.

Programs to access to clinical compounds

Programs to access to clinical compounds

In order to access to clinical compounds, pharmaceutical companies like AstraZeneca or Pfizer, are developping programs to propose number of their molecules that could be used in repurposing studies.

AstraZeneca Open innovation Program

In addition to marketed and Ph 3 compounds listed on the company’s website, AstraZeneca invites meritorious scientific proposals to study selected additional Ph 2a ready compounds (mechanisms) listed on their Open Innovation platform in a Clinical Table of Compounds.  To discuss the suitability of one of these compounds and, if mutually deemed warranted, obtain a ‘Letter of Support’ for AstraZeneca to supply the formulated compound as well as matched placebo contact Dr. Craig Wegner at craig.wegner[at]astrazeneca.com.  For clarity, review for and funding of the final full proposal would still be through this E-Rare-3 Call for Proposals, but AstraZeneca would, assuming they agree, provide compound, technical expertise related to the compound as well as clinical study, and supportive regulatory documents.

More information

Pfizer Compound transfer program
Pfizer has an extensive pure substance library that encompasses all of their publicly known compounds. You can submit a request for a Pfizer compound by going on INSPIIRE portal. Each request regarding use of their compounds will be reviewed for content, value, and consistency with Pfizer's direction for the requested compound. For approved requests Pfizer executes Compound Transfer Agreements (CTAs) that provide the compound free of charge to a third party to conduct the agreed upon study. Processing time from initial submission to the approved compound(s) shipment to your facility may take up to 12 weeks.

More information

E-Rare 2012 - Created by Toussaint Biger