Shouting Loud

Global Voice for aHUS Shouting Loud

In the second survey of aHUS patients around the world, the first was in 2014, international aHUS patient organisations ,including most from Europe , are encouraging aHUS patients and /or their carers to give their views about several rare disease aspects of their disease e.g. problems with diagnosis , access to treatment , ,research and registries and expert advice.

Already more responses from more countries have been received than in 2014 and many more can be expected before it closes on 15 April 2016.

The survey can be accessed via http://www.ahusallianceaction.org/survey/

When the results are compiled a global webinar will follow to allow patients and families to talk about them.

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The ERA-EDTA WGIKD (Working Group on Inherited Kidney Disorders) has just published recommendations for the use of Tolvaptan in ADPKD.

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice


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European Journal of Human Genetics

The article is signed by RD Connect researchers on the basis of the work done so far by various committees where FEDERG is active. The RD Connect paper on informed consent, which FEDERG contributed to via the Rome workshop and paper drafts has now been published. It’s open access and so available for all to read:

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.’ is now published online in EJHG http://www.nature.com/doifinder/10.1038/ejhg.2016.2 in our Advance Online Publication (AOP) service.

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A call for research project on Alport syndrome: The call is financed by a group of European associations for Information and Research on Kidney Disease Genetic (AIRG). This group includes AIRG-France, AIRG-Spain and AIRG-Belgium. This tender, 2016, has a budget of 150.000 € (Hundred and fifty thousands) over two years to finance in 2016 and 2017, one or more innovative and targeted projects in this disease (Ref. 2016 ALPORT AIRG-FEB).

This is a full-fledged international call without geographical restriction.

For more information on the call, visit the web sites:

or contact:


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At the onset of 2016 a good news for Genetic diseases: CRISPR/Cas9 is opening new avenues: The positive results of the first animal tests of the new promising technique of modifying the ADN using with CRISPR/Cas9 to treat Duchenne Muscular Distrophy (CRISPR/Cas9 is a sort of cut/copy/paste/insert tool as we know on text software, that works for ADN).

The way ahead is still long to become a human cure for some genetic diseases but somehow the direction is set, and no doubt the technique will be massively investigated by research teams the world over.


Hiroshi Nishimasu, F. Ann Ran, Patrick D. Hsu, Silvana Konermann, Soraya I. Shehata, Naoshi Dohmae, Ryuichiro Ishitani, Feng Zhang, and Osamu Nureki – Crystal Structure of Cas9 in Complex with Guide RNA and Target DNA http://dx.doi.org/10.1016/j.cell.2014.02.001
the crystal structure of Streptococcus pyogenes Cas9 in complex with sgRNA and its target DNA at 2.5 A ˚ resolution.
Licence: CC BY-SA 3.0
Source: Wikipedia
Image: Nielsrca – based on: System Bio and Origene
graphical overview of CRISPR Cas9 plasmid construction
Licence: CC-BY-SA 4.0
Source: Wikipedia


Here below the links to the abstracts of the 3 publications published on the last day of 2015.

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