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ERN BOND Network Meeting and ePAG meeting - 26th, 27th and 28th September 2022

After careful evaluations on the current trend of the COVID-19 infection and some administrative issues linked to the GA signature, we decided to move our September meeting and the ePAGs meeting online.

The next Network meeting for representatives of ERN BOND HCPs will be 26th-27th September, while the ePAG meeting - healthcare professionals are very welcome - will be on 27th-28th September

Save the dates! Preliminary agendas and registration form will be shared soon.

 
Ukraine Emergency Response: All 24 ERNs united to help Ukrainian people with rare diseases

Launch of a continuously open survey for ERNs HCPs to report Ukrainian refugees' care.

In the context of the Ukrainian crisis, ERNs need to know how many patients with rare diseases get care outside Ukraine. In order to adapt the coordination, it became important to follow the needs to know if initiatives are adapted to the situation.

Thus, the ERN Coordinators Group launched a continuously open very simple form for each Ukrainian patient ERNs HCP have been managing at this link.

If you are an ERN HCP that currently care for Ukrainian refugees, do not hesitate to complete this survey.

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Rare Diseases Hub Ukraine

The Rare Diseases Hub is an innovative project promoted by the European Commission, ERNs, ECHO and EURORDIS. It is based at the Sant Joan de Déu Children's Hospital (Barcelona).

It aims to have a dedicated focal point for any Ukrainian affected by the war who needs specialized medical support for their rare and/or complex condition and to help this person and their family to better navigate the support systems available to them.

 
Website

EJP RD - Launch of the Innovation Management Toolbox (IMT)

EJP RD launched the Innovation Management Toolbox (IMT), a free-to-use and curated reference library of resources in rare disease translational medicine that will provide investigators with self-help resources specific to their needs.

The Innovation Management Toolbox empowers researchers to conduct rigorous translational research. It aims to help researchers independently navigate the complexities of translation and give a clear overview of the communities that are available to help them. The ultimate impact of these activities is to reduce uncertainty and inefficiency in the academic translational research process, resulting in faster development and more patient-centric research outcomes.

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EJP RD - Rare Diseases Clinical Trials Toolbox

The Rare Diseases Clinical Trials Toolbox has been developed by EJP RD as a practical aid for developers of clinical trials on medicinal products for human use regardless of therapeutic area

The toolbox aims to collect the accumulated knowledge, experience, and resources (collectively termed as ‘tools’) generated by previous projects and/or research infrastructures and other organizations into a practical and guided toolbox to help clinical trialists and R&D managers understand the regulations and requirements for conducting trials, with special focus on investigator-initiated trials for rare diseases and applicable in Europe. 

 
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EJP RD - FAIRopoly board game: FAIRification Guidance for ERN Patient Registries

The board game FAIRopoly developed by EJP RD illustrates the FAIRification steps followed by the ERNs registries to make their data more Findable, Accessible, Interoperable, and Reusable.

The player starts the game on the top left corner of the board and moves around clockwise one tile at a time.

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EJP RD - Funding opportunities

Networking Support Scheme (NSS)

The aim of the NSS call is to encourage knowledge-sharing between health care professionals, researchers and patients on rare diseases and rare cancers, as well as to enable or increase the participation of usually underrepresented countries in Europe in new and existing research networks. Eligible applicants are health care professionals, researchers, and patient advocacy organisations from  countries involved in the EJP RD.

The NSS has been expanded to include online and hybrid networking events that can now be funded in addition to face-to-face events.

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.

The submission system for the Networking Support Scheme will open on July 1st, 2022.

The next collection date is September 1st, 2022 at 14:00 (CET).

 
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STOPFOP - Saracatinib trial TO Prevent FOP 

FOP expert center Amsterdam UMC (ERN BOND member) is conducting an EU-IMI STOPFOP clinical trial together with the Royal National Orthopaedic Hospital and the University of Oxford (UK), the Klinikum Garmisch Partenkirchen (Germany), and the University of Boston (USA). The saracatinib, a kinase inhibitor, is investigated in patients aged 18 years and older with fibrodysplasia ossificans progressiva (FOP).

The study is open to all European patients.

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Update from EuRR-Bone (European Registries for Rare Bone and Mineral Conditions)

Bone and mineral conditions case counter (since April 2020) 

  • Bone dysplasia conditions: 429 cases

  • Mineral conditions: 367 cases


New condition-specific module

The Osteogenesis Imperfecta module is live in the Core Registry. Including patient and clinician reported outcomes, this module collects relevant longitudinal data.

New member of the team

The EuRR-Bone and EuRRECa registries welcome Tess de Rooij. Tess comes from a marketing and market research background and started in July as a Junior EU Project Manager for both the EuRR-Bone and EuRRECa project. She is based at the LUMC in Leiden, the Netherlands.

Booth at the 14th International Conference on Osteogenesis Imperfecta in Sheffield, UK from 30th August to 2nd September 2022. Stop by for information about the registries and how to get involved.

Drop-in sessions EuRR-Bone

Drop-in sessions are scheduled twice every month:

·         The second Friday in every month at 2pm CET (1pm UK)

·         The fourth Wednesday in every month at 4pm CET (3pm UK)


Go to the website for the next meeting or drop an email on eurr-bone@lumc.nl to find out or make a private appointment.

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Update from ERICA

ERICA - European Rare Disease Research Coordination and Support Action consortium in which all 24 ERNs take part, aims to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.

ERICA 2nd General Assembly 

The European Rare Disease Research Coordination and Support Action - ERICA 2nd General Assembly took place in Bologna from June 20th – 22nd, 2022, as a hybrid meeting with more than 100 people attending in person and online.

All the presentations are now available at ERICA website.

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ERICA Collaborative inter-ERN Research Wall

ERICA aims to promote collaborative inter-ERNs research projects. The Research Wall has been created for centralising the announcement of any new project and search for collaborators. 

It provides basic information about the open calls for collaboration as well as contact details of the project Principal Investigator. If you wish to receive updates directly by email you can register to the Research Wall mailing list  

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Publications

WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.
Caetano da Silva C et al., Hum Mol Genet. 2022 May 19;31(10):1622-1634.

More severe phenotype of early-onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A. Caetano da Silva C et al., Mol Genet Genomic Med. 2021 Jun;9(6):e1681.
 

Rare Skeletal Diseases Column on “Tabloid di Ortopedia” Articles are in Italian only.

Read all the articles

“Genetic and Genomics of Skeletal Disorders” Special Issue on ‘Genes' Journal, including rare skeletal diseases sub-topic.

BOND members are invited in contributing to this Special Issue with a manuscript. A special rate for BOND members is provided by the Journal and ERN BOND will co-finance the publication costs on manuscripts on BOND-related topics (BOND contribution will depend on the number of eligible papers).

If you are willing to submit a manuscript please contact the Guest co-Editors, Dr. Elena Pedrini (elena.pedrini@ior.it) and Dr. Evelise Brizola (evelise.brizola@ior.it), together with the BOND Coordination Team.

Read the Special Issue
Webinars

ERN BOND webinars

Details of upcoming webinars and recordings of past events are available at www.ernbond.eu/webinars/

Please contact the Coordination Team to suggest topics to be addressed in the ERN BOND webinars.

EJPRD training and education

MOOC on Diagnosing Rare Diseases: From the Clinic to Research and Back.

The topics covered include: the diagnostic process and the types of genetic tests available for rare diseases; the differences in rare genetic diseases patient pathways; the technological advances for diagnostic research; the role of collaborative studies and data sharing in rare diseases diagnosis; the impact of having a diagnosis or lacking a diagnosis on patients' lives; the role and place of physiopathology approaches as well as the social sciences research in the context of rare diseases diagnosis.

You can begin learning as soon as you enrol, without waiting for a new ‘run’ to begin. 

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Quality assurance, variant interpretation and data management in the NGS diagnostics era.

The Training Course, will be held ONLINE, October 19th-21st, 2022, consists of 3 training days, organized by the University Hospital of Tübingen (EKUT) in close collaboration with Task Leader KU Leuven and, mainly, EJP RD Task Partners [ISS Rome, ACU / ACURARE Istanbul , IPCZD (CHMI) Warsaw, CNAG-CRG Barcelona, ​​INSERM (AMU) Marseille, UMC Groningen].

To ensure active participation and exchange with teaching staff and participants a maximum of 30 participants will be admitted to the ONLINE training course.

Registration deadline is 15th August 2022 23:59 CEST. An email will be sent by 2nd September 2022 to the selected participants. Respondents who are not selected will be kept on a waiting list until 7th October 2022.

More information

ECTS Webinar Series: Bone, Muscle & Beyond

ECTS organises Webinars on practical issues on Bone Muscle & Beyond topics, including basic and clinical research.

Registration and info
Upcoming Events

OI2022 - 14th International Conference on Osteogenesis Imperfecta

The OI2022, will take place in Sheffield from 30th August to  2nd September 2022.

The Conference will bring together scientists and clinicians from a wide range of disciplines, presenting cutting edge news from basic science, current research as well as medical and surgical treatment of OI. 

Pre-meeting workshop co-organised by ERN BOND: “Early life interventions and assessments” on 30th August 2022 at 10am CEST.

 
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Innovation Bootcamp in Rare Diseases 2022 (IBRD2022) Congress

The in-person event will take place in Brussels, Belgium on October 11th.

The congress is targeted towards all professionals involved in the prevention, treatment and diagnosis of rare diseases and orphan drug research and development, including researchers, clinicians, pharma, policy makers and patient representatives.

The program includes the sessions: tackling delay in diagnostics; newborn screening & improvement of prevention; the impact of patient organisations; pricing of Orphan drugs and true cost of illness; regulatory & access challenges in orphan drugs.

 
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ANDO Portugal - Skeletal Dysplasias Seminar

ANDO Portugal organizes, in collaboration with some ERN BOND members, a seminar on skeletal dysplasias to be held on November 4th, 2022 at Hospital Dr. Nélio Mendonça, Funchal, Madeira Island, Portugal.

It will focus on presenting skeletal dysplasias, current practice in multidisciplinary care, and will align with regional professionals for better communication and referral.

 
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SIOT 105th - Congress of the Italian Society of Orthopaedics and Traumatology

The SIOT 105th National Congress to be held on 10th – 12th November 2022  at Centro Congressi Rome Cavalieri Waldorf Astoria, Rome, Italy.

The presentation “CPMS: a new international communication tool for orthopaedics”, by Dr. Maria Beatrice Michelis, ERN BOND member, is included in the scientific programme and planned on 12th November at 8 am CET.

 
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1st virtual OIFE Investigator meeting

Osteogenesis Imperfecta Federation Europe (OIFE) is organizing it's first Investigator Meeting.

This virtual one day meeting will take place on Zoom on November 18th 2022 from 2pm at 7pm CET (8am- 1pm EST).

The target group is primarily researchers and clinicians working with OI, but anyone interested in OI-research can join.

More information
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