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The International Rare Diseases Research Consortium (IRDiRC) has uploaded an enlightening report which includes extensive information on the major developments across the globe in the field of rare diseases. The content of this report will be useful for any stakeholder whether it is to support decisions of policy makers and research funders, or educate the rare diseases community at large of the achievements and of observed trends which shape the future of research and development for rare diseases.

The report has been compiled by means of a systematic survey of published articles, between July 2014 and June 2015, in scientific journals and press releases. It identifies several major policy initiatives that were taken during this period notably, the funding provided by the Canadian Institutes of Health Research and Genome Canada to study models and molecular mechanisms of rare diseases, the joint proposal of the EMA and the FDA on research for new Gaucher disease medication, among others. The report highlights the guidelines and recommendations that are likely to benefit rare disease research. The report also published the outcomes of previous major initiatives such as FORGE, Deciphering Developmental Disorders, FDA’s Orphan Products Grants Program and EMA’s adaptive licensing pilot project. The report also describes useful databases such as Linked2Safety, ClinRegs and ClinGen. It highlights trends that will significantly impact rare disease patients such as involving patients at the EMA for discussions on benefit/risk assessment, importance of patient reported outcomes, among others.

More information: IRDiRC State of Play report [PDF], Orphanews

rd action

RD-ACTION is a new Joint Action consisting of the member states of the European Union for rare diseases, following the two previous Joint Actions - Orphanet Joint Action and EUCERD -, and represents renewed support of the European Commission (EC) to rare diseases, through its Directorate General for Health (DG SANTE).

RD-ACTION has three main objectives:

  1. to contribute to the implementation, by member states, the recommendations of the EC Panel in relation to policies on these diseases,
  2. to support the development of Orphanet and make it sustainable,
  3. to help Member States to introduce the ORPHA code in their health systems to make rare diseases visible.

With a global budget of €8,344,079, this work will last three years (until June 2018), following the logic of coherence and continuity vis-à-vis the previous actions, but aims to go further in terms of concrete implementation and consolidation policies.

More information: European Commission press release, Orphanews

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Pharmacological reactivation of the γ-globin gene for the production of foetal haemoglobin (HbF) is a very promising therapeutic avenue for β-thalassaemia. Increased production of γ-globin can ameliorate the symptoms of the disease by partly substituting the non-functional β-globin gene, and restoring the balance between α and non-α globin chains. Drugs currently available for this purpose have limited application due to moderate therapeutic properties, variable patient response and potential cytotoxic effects. Although research into finding new HbF-inducing agents is imperative, the absence of a known biological target hampers drug discovery.

This tool aims to speed up the process of drug discovery by combining the principles of biology and chemoinformatics technology, allowing a more focussed approach to the task of screening for new pharmacological agents in the absence of a known biological target. The model was internally and externally validated paying special attention to the principles of model validation for accepting Chemoinformatics models as described by the Organisation for Economic Cooperation and Development (OECD). This web service will facilitate the computer aided small molecule design as it can serve as a source of activity prediction for compounds. The user can draw a new structure, enter a SMILES notation or upload many structures in an sdf file. By the click of a button a prediction is made available together with a value that indicates if the structure can be tolerated by the model in terms of its domain of applicability.


Prediction of HbF inducers

African nursing journal

An article published in International Journal of Africa Nursing Sciences provides an integrative review of 63 references related sickle cell disease among children in Africa, focussing on the incidence, prevalence, morbidity, and mortality; current practices and challenges related to screening, diagnosis, and treatment. From this data the authors also provide recommendations for practice, policy, and research to improve health outcomes of children with sickle cell disease in Africa.

More information: Open-access article, Orphanews

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A classification model for the prediction of the Chelation outcome in thalassemia patients using as input the following parameters: Gender, Age, Vitamin D, T2 Liver, T Score Spine, T Score Femur, and Diabetes presence. A successful Chelation is considered if the Ferritin values are below of 1000 ng/mL.

Prediction of chelation outcome

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