Rare Disease Day 2017

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The last day of February is International Rare Disease Day. It’s the day to raise awareness about rare diseases worldwide!

A rare disease affects no more than 5 people in each 10 000 individuals.
Debates about research in Rare Diseases and Rare Disease Policies are taking place today all over the world. You can also join! Find out here the closest event happening near you.

If you can’t, why not take a few minutes to sign a petition?
The Blackswan Foundation is promoting a petition for increased awareness of research in rare diseases.
Don’t forget, each of the 5000+ rare diseases is rare, but the patients are numerous!
You can sign it here.

As debates take place, it’s always good to keep up-to-date on what is being done.
The European Policy Landscape in Rare Diseases is still dispersed, with France being the number 1 country in the World establishing a National Plan for Rare Diseases (‘Plan National pour Maladies Rares). You can get further information on the topic in this 2015 article “Rare disease policies to improve care for patients in Europe”, by Charlotte Rodwell and Segolene Ayme.

Remember:
“This is no time for apathy or complacency. This is a time for vigorous and positive action”
Dr. Martin Luther King

🙂

Publications of PROFILE Members Dec 2016-Jan 2017

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Over the last couple of months various members of the PROFILE Consortium have published several new results from their research:

  1. Prof. Karen Vanhoorelbeke and her laboratory at KU Leuven researched the pre-clinical efficacy of a widely used and worldwide approved mucolytic agent, N-Acetylcysteine, in prevention and treatment of signs and symptoms of Thrombotic Thrombocytopenic Purpura (TTP) in animal models of the disease. The article was published on Blood journal (link here);
  2. Prof. Agnes Veyradier and Alain Stepanian from AP-HP CNR-MAT published research regarding the usefullness of ADAMTS13 and von Willebrand Factor in predicting blood clotting complications (venous thromboembolism) in patients with cancer. The article was published on the Journal of Thrombosis and Haemostasis (link here);
  3. Prof. Agnes Veyradier*, Karen Vanhoorelbeke** and Berangere Joly* (*AP-HP CNR-MAT and **KU Leuven) published a summarized review of the current and future therapeutic targets in Thrombotic Thrombocytopenic Purpura. It was published in the journal Intensive Care Medicine (link here);
  4. Prof. Paul Coppo, from AP-HP CNR-MAT published a detailed summary of how autoimmune Thrombotic Thrombocitopenic Purpura is treated, in the journal Transfusion and Apheresis Science (link here);
  5. Prof. Agnes Veyradier and Paul Coppo (AP-HP CNR-MAT), together with a network of French collaborators from Hospitals of the entire French territory have published on the difficulties for diagnosing and reasons for misdiagnosing the clinically-challenging TTP according to the French Thrombotic Microangiopathies Reference Center (CNR-MAT) experience. The study was published in the American Journal of Hematology (link here).

More news soon! 🙂

New member of the PROFILE Team

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The Team warmly welcomes Robin Doeswijk as the new Contact Officer of the EHA within the PROFILE Consortium!

Sadly, Fleur de Haas left the Team last year, now being replaced by Robin. We are deeply grateful for all of Fleur’s highly valuable work and collaboration, and wish her all the Best with her Carreer!

Welcome aboard Robin! 🙂

Blood publications November 2016

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Volume 128, issue 21 of Blood Journal contains the contribution of Prof Dr Jan Voorberg who guided the design and supervised the experiments of the research article entitled “Identification of glycans on plasma-derived ADAMTS13”. Additionally, Prof Dr Karen Vanhoorelbeke, with her comment “Glycans of plasma ADAMTS13” provides a critical review of this research.

The first manuscript shows the glycan composition on plasma ADAMTS13 and the second one offers an overview about previous investigations done in this filed, highlighting the importance of this kind of studies.

You can find both publications in this link

ESRs located in KULeuven attended the BSTH 2016

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The students had the chance to meet researchers from universities and hospital centers from over Belgium and get to know the main research areas from the different scientific approaches related to thrombopathies.

Prof Dr Karen Vanhoorelbeke, coordinator of PROFILE, participated as moderator of the session regarding the state of art of “Flow and thrombosis cardiology”.

The programme covered cardiology and haemostasis fields, with the state-of-art lectures focused on platelets and thrombosis and flow and thrombosis in cardiology. Additionally, experts from different countries provided satellite symposia related to the efficacy of treatment and management of bleeding disorders.

ESR participated in the NSBM fall meeting

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The Netherlands Society on Biomolecular Modelling fall meeting, was held on November 16th 2016, at the University Library De Uithof, CS Utrecht, The Netherlands. The event brought together people working on three dimensional structures of biomolecules and biomolecular simulations.

Boğaç Erçığ participated with his poster based on “Structural bioinformatics investigation of the structure of human ADAMTS13”, to better understand domain interactions and mechanisms in order to develop novel therapeutics and diagnostic tools.

Boğaç Erçığ at the NSBM fall meeting in the Poster session

Boğaç Erçığ at the NSBM fall meeting in the Poster session

Early Stage Researcher receives training

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protein-modeling

As part of her doctoral training, Early Stage Researcher, Johana Hrdinova, attended a course on virtual screening and ADMET in-silico at University Paris Diderot from November 15 to 24, 2016.

The course was a practical training on the use of structural bioinformatics and chemoinformatics in the area of life and health sciences.

AP-HP partners publication: “Assessment of endothelial damage and cardiac injury in a mouse model mimicking thrombotic thrombocytopenic purpura”

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Prof Dr MD Paul Coppo and Prof Dr MD Agnes Veyradier participated in the results interpretation of the study entitled: “Assessment of endothelial damage and cardiac injury in a mouse model mimicking thrombotic thrombocytopenic purpura”.

One of the symptoms developed by TTP patients is multiple organ failure. One of the affected organ is the heart, however heart failure in TTP patients have been poorly studied. This motivated the authors of the article to investigate this event with the objective to assess the changes in endothelial function and the induced cardiac damage by injecting rVWF in an ADAMTS13 knock out mouse to induce TTP like symptoms.

The study shows that in the murine TTP model used there is a strong mesenteric and coronary endothelial dysfunction due to the occurrence of a pro-oxidant state, and pro-adhesive and pro-inflammatory phenotypes of endothelial cells from the cardiac microcirculation. These finding suggest that alterations produced by TTP microthrombi amplify the pathophysiology of the disease.

The article was published in the Journal of Thrombosis and Haemostasis, and you can find it here.

“Child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency: a cohort study of the French national registry for thrombotic microangiopathy” AP-HP partners new publication

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Prof Dr MD Paul Coppo and Prof Dr MD Agnes Veyradier contribute with the study design and results interpretation of the research paper entitled, “Child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency: a cohort study of the French national registry for thrombotic microangiopathy”.

The paper provides demographic, clinical and biological features of their cohort of 45 patients with childhood onset of acquired TTP. Additionally, the authors analyze the outcome of the disease in terms of mortality, therapeutic requirements and health related social life.

Providing evidence about why TTP should be considered as an important life threatening rare disease, and the importance of the long term follow up of the patients in order to prevent relapses and associate autoimmune disorders.

The article was published in the lancet haematology and available online, you can find the paper here

PROFILE beneficiaries and Early Stage Researchers participated in the CNR-MAT meeting, held in Paris on October 14th

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The main topic of the meeting was Thrombotic Thrombocytopenic Purpura. Within participants were included the president of a TTP patients association, medical specialists, and leaders of competence centers, specialized centers and reference centers from different regions of France. The sessions addressed issues concerning epidemiology, prevention, treatment and follow up of TTP.

Prof Dr MD Paul Coppo, one of PROFILE partners, was the host of the conference. Furthermore, he led an interactive session showing clinical cases, in order to train the audience about the treatment of TTP patients.

Prof Dr Karen Vanhoorelbeke, coordinator of PROFILE, and Prof Dr Jan Voorberg, communication and dissemination manager of PROFILE, provided results of basic research in health sciences regarding the pathophysiology of TTP. Their talks were entitled “Horizon H2020/PROFILE project” and “Identification of anti-ADAMTS13 T-cells in TTP”, respectively.

Early Stage Researcher, Carolina Velasquez, presented the plan of a future study to evaluate TTP patients understanding of the disease and identify factors associated with poor comprehension. The aim was to motivate medical specialists to join the study and receive feedback from them.