Dear friend,
2021 Semestral Monitoring Exercise
As you may know, the European Commission requests every six months the data of the ERN activity. This information is strongly important collected from the ERNs will be part of the DG SANTE report for defending the political position about the ERNs.
BOND Helpdesk has recently sent the semestral survey for the data collection, we ask for your collaboration as representative of your HCP in providing this important data by Wednesday 20th October 2021 through the received form.
If you need any assistance, please contact us to fabio.dalessandro@ior.it
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EJP RD – Networking Support Scheme (NSS) Funding Opportunity
The NSS call encourages knowledge-sharing between health care professionals, researchers and patient advocacy in the field of rare diseases and rare cancers from countries involved in EJP RD.
The NSS has been now expanded to include online and hybrid networking events that consists of a group of participants networking face-to-face and online.
There is no limit on the number of participants per event; however, the maximum budget that can be requested is € 30,000 per networking event.
Next collection date: December 2nd, 2021 at 14:00 (CET)
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ECTS Fellowship
ECTS launched a new fellowship programme for New Investigator members. This one-year fellowship programme is open to both pre-clinical and clinical researchers and will be used exclusively to fund research in the area of bone disease. Two separate calls for basic/translational and clinical fellowship are available.
The 2022 Call for Applications is now open until 31 October 2021.
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Update from EuRR-Bone (The European Registry for Rare Bone and Mineral Conditions)
- Bone and mineral conditions case counter (since April 2020)
- Bone dysplasia conditions: 315 cases
- Mineral conditions: 367 cases
- e-REC (electronic reporting tool) list of conditions has been revised and updated in collaboration with Prof. Geert Mortier.
- Core Registry: Beta versions for the disease specific patient reported outcomes are ready for Achondroplasia, Osteogenesis Imperfecta, Rare Hypophosphataemia and Fibrous Dysplasia/McCune-Albright syndrome. Patient representatives met to see the progress and test the modules.
Live versions will available during the fall. https://eurr-bone.com/news/
- Patient Reported Outcome Measures (PROMs): What aspects of health and well-being matter to patients and clinicians with rare bone and endocrine conditions? The EuRR-Bone and EuRRECa projects are developing a survey to answer this question. The Survey will be disseminated through national and international patient groups and the registries health care providers.
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Publications
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
This study reports the prevalence of variants in genes implicated in skeletal dysplasias in 108 probands with short stature and mild skeletal anomalies.
A genetic defect was elucidated in a fifth of patients, thus, the prevalence of mild forms of skeletal dysplasias is relatively high in such individuals, with variants in ACAN and IHH accounting for 81% of the cases.
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Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
Metaphyseal anadysplasia is a very rare hereditary skeletal dysplasia with onset occurring normally during the second and third years of life, but unlike many other dysplasias, symptoms appear to resolve by adolescence.
To date, only two metaphyseal anadysplasia type 2 families have been reported and here the third cases is presented. This case also confirms that biallelic MMP9 variants cause this very rare skeletal dysplasia and also shows that the skeletal manifestations can improve within a short period time and at an early age.
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Rare Skeletal Diseases Column on “Tabloid di Ortopedia”
Tabloid di Ortopedia is a monthly periodic magazine addressed to Italian orthopedists, rheumatologists and physiatrists.
From September 2021 the magazine hosts a column on rare skeletal diseases edited by ERN BOND experts.
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Only in Italian
October topic: “Fibrous dysplasia of bone”, by Prof. Sandro Giannini and Dr. Gaetano Paride Arcidiacono, Department of Medicine-DIMED, University of Padova.
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Webinars
ERN BOND webinars
Recordings of the BOND webinars delivered in June are now available at https://www.med3.it/lpassets/ern_bond/past.html
EJP RD - European Joint Programme on Rare Diseases Webinars
Rare Diseases Resource Webinar: European Paediatric Translational Research Infrastructure (EPTRI)
October 14th 2021 at 15:00 CET
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Drug repurposing for rare disease workshop series
First session: October 21st 2021 – 15:00-17:00 CET
Second session: October 28th 2021– 15:00 CET
Third session: November 4th 2021– 15:00 CET
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Resource Webinar: Sample Catalogue & BBMRI-ERIC Directory & Negotiator
October 27th 2021– 15:00 CET
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Resource Webinar: Orphanet
25 November 2021 - 15:00 CET
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ECTS Webinar Series: Bone, Muscle & Beyond
ECTS Organises Webinars on practical issues on Bone Muscle & Beyond topics, including basic and clinical research.
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Upcoming Events
EFGCP VIRTUAL PAEDIATRIC CONFERENCE 2021
The European Forum for Good Clinical Practice (EFGCP) and the Drug Information Association (DIA) are organising the Better Medicines for Children Conference 2021 on the theme of “Global Paediatric Drug Development Challenges and Solutions – The Path Forward”.
The fully virtual conference will take place over two days from October 18th – 19th from 11.45 to 18.00 CET.
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Virtual Congress: Europe Biobank Week 2021
The European, Middle Eastern and African Society for Biopreservation and Biobanking (ESBB) and the European Research Infrastructure on Biobanking (BBMRI-ERIC) are jointly organising the Europe Biobank Week 2021 as a Virtual Congress with this year’s theme “Biobanking for our Future – Opportunities Unlocked”.
The fully online event will take place over three days from November 8th – 10th, 2021.
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ECTS 2022, 49th edition of the European Calcified Tissues Society Congress
The congress takes place in the city of Helsinki, Finland, from 7th to 10th May 2022, with a pre-congress day on 6th of May.
Abstract submission for the ECTS 2022 will open from 1st October.
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