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New GFI1B variants in bleeding and platelet disorders

Platelets restrict blood loss upon vessel damage by formation of a clot (thrombus). Recently, we reported a family with a bleeding and platelet disorder (BPD), which was caused by a defect in the gene GFI1B1.

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New data exchange platform on rare diseases

The European Commission (EC) launched a new online knowledge-sharing platform – the European Platform on Rare Disease Registration (EU RD Platform) – on February 28, 2019.

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IVDR resources

IVD Taskforce Videos:Konstanze Döhner

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Monika Brüggemann

IVDR Sessions:

HemaSphere articles:
Critical Implications of IVDR for Innovation in Diagnostics: Input From the BioMed Alliance Diagnostics Task Force
The New EU Regulation on In Vitro Diagnostic Medical Devices: Implications and Preparatory Actions for Diagnostic Laboratories
EU-Wide Access to…

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Hematology Education & Training

The European Hematology Association (EHA) is the largest provider of independent, evidence-based, and peer-reviewed medical and scientific education in hematology in Europe.

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The Clot Thickens

Haemophilia B is a genetic bleeding disorder, affecting approximately 80,000 males worldwide1, caused by an insufficient or dyfunctional blood clotting protein called factor IX (FIX).

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Register for EHA2025

Get ready to make new connections in Milan from June 12–15, 2025. Here are all the details about registration.

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Without access to treatment, can we truly innovate in rare diseases?

Interview with Giampaolo Merlini

There have been many developments on rare diseases since the EU Orphan Medicinal Products Regulation came into force in 2000. As the European Commission is evaluating its effectiveness, EHA discussed with Prof.

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Current status of the Clinical Trials Regulation

HemAffairs Article #2 – June 2019

In 2014 the European Parliament approved the Clinical Trials Regulation (CTR) that is supposed to replace the Clinical Trials Directive (CTD) from 2001. Five years later, the regulation has not yet become applicable.

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