Warm wishes from Orphanet this season
We wish all our readers happy holidays and we will be back in the new year with more news and updates on rare diseases!
Editorial
Dr Lucia Monaco succeeds Dr Austin as IRDiRC Chair
The International Rare Diseases Research Consortium (IRDiRC) has recently announced the election of Dr Lucia Monaco, Head of the Research Impact and Strategic Analysis at Fondazione Telethon in Italy, as the next Chair of the IRDiRC Consortium Assembly. Dr Monaco will follow the footsteps of Dr Christopher Austin, Director of the National Center for Advancing Translational Sciences (NCATS), USA. Dr Monaco’s term will run from 1 January 2019 until 31 December 2021.
In addition to the handover of IRDiRC chairmanship, a new Vice Chair was also elected. Dr David Pearce, Executive Vice President of Innovation and Research of Sanford Health will replace Prof Hugh Dawkins, formerly Director of the Office of Population Health Genomics of Western Australia Department of Health, and recently appointed Chief Health Advisor of HBF Health Limited. Dr Pearce will work hand-in-hand with Dr Monaco to advance IRDiRC’s vision and goals, and assist her through his experience in bringing teams together and working with multi-stakeholders in all aspects of rare diseases research.
The coordination role of the IRDiRC Scientific Secretariat will also change hands, from Dr Ana Rath to Dr Daria Julkowska, under the framework of the European Joint Programme (EJP) on Rare Diseases. The new Scientific Secretariat will continue to support IRDiRC in its implementation of prioritised activities as determined by the IRDiRC Consortium Assembly, and ensure smooth running of the Committees and Task Forces to carry out their activities.
European Reference Networks
New #EUProtects video featuring the ERNs
The European Commission’s EU Protects campaign (#EUProtects) aims to raise awareness of the various ways in which the EU combats global challenges to protect its citizens and their latest video features the European Reference Networks (ERNs).
Endo-ERN: Quality of care standard for adrenal disorders
A quality of care standard for adrenal disorders has been developed and was recently listed in the Register of the Dutch National Health Care Institute in September 2018. The standard was initiated by the consortium AdrenalNet and was developed in cooperation with both patients and healthcare professionals.
The document explains to health practitioners and patients the good practice of care for a person with an adrenal disorder. It also helps patients find the best way to cope with their illness and its consequences.
ERN-RND: Poster – Diagnostic flowcharts
The poster called “Diagnostic flowcharts, a tool to disseminate expert knowledge on rare neurological diseases” was displayed during the 4th European Reference Networks Conference on 21-22 November 2018 in Brussels, Belgium.