ERN BOND Newsletter

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Nominations now open for the EURORDIS Black Pearl Awards 2022!

Hosted every February to coincide with Rare Disease Day, the EURORDIS Black Pearl Awards celebrate the inspirational qualities of people living with a rare disease along with those who go that extra mile to make a difference to their lives.

The eleventh edition of the Awards will take place online on Tuesday, 8th February 2022.

The 12 award categories recognise the outstanding efforts of individuals, organisations, companies, researchers, scientists, media, and policy makers in bringing about change to improve the lives of the 30 million people in Europe and 300 million worldwide living with a rare disease.

Nominations can be submitted from anywhere in the world!

Deadline: 10th September 2021.

Nominate now

ERICA European Rare Disease Research Coordination and Support Action

ERICA 1st General Assembley plenary session presentations are now available at this link https://erica-rd.eu/presentations-erica-general-assembly-2021/

For update follow ERICA on twitter

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

EuRR-Bone activity since April 2020: number of patients included in the e-REC and Core Registry

Bone dysplasia: 227
Calcium and phosphate: 330

E-REC update:

Update of the Bone Dysplasia conditions list of e-REC
Addition of a tooltip to provide more details on certain conditions.

Core Registry update

New features:

WHO ICF outcome.
Anthropometry module in the core registry for bone and mineral conditions.

Modules under development for data collecting on 4 specific conditions (developed by EuRR-Bone working groups):

Osteogenesis imperfecta
Achondroplasia
Fibrous dysplasia/McCune Albright syndrome
Rare hypophosphataemia

Drop-in sessions

Anyone who is interested in learning more about the EuRR-Bone platforms (e-REC and Core Registry) can join by Zoom. No need to register for the session, just come along! Every second Friday at 14:00 CET.

Meeting details

Publications

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review.

This paper, recently published on the Springer to provide guidance in both diagnosis and treatment of adult XLH patients and promote better provision of care for this group of patients.

Several authors of this paper are ERN BOND members.

Read the full article

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 the magazine will host a column on rare skeletal diseases edited by ERN BOND.

Webinars

SAVE THE DATE for the next webinars organised by ERN BOND:

Fibrous Dysplasia and McCune-Albright Syndrome: a joined venture

Time and date: 07/09/2021 16:30 CEST
Speakers: Prof. Michiel van de Sande - Dr. N. M. Appelman-Dijkstra

Talking about the type 2 collagen disorders

Time and date: 28/09/2021 17:00 CEST
Speakers: Dr. Geert Mortier

ERN BOND webinars are free to join, however pre-registration is required.

Updates and Registration

Missed the ERN BOND webinar "Gender issues in Covid-19 pandemia"? The recording of Maria Luisa Brandi's speech is available here.

Upcoming Events

EFGCP VIRTUAL PAEDRIATIC 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.

Early Bird Registration Fee until the 15th of August 2021.

More information

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.

Registration is now open at this link.

More information

EJP RD - European Joint Programme on Rare Diseases - 3rd Training Course Quality assurance, variant interpretation and data management in the NGS diagnostic era.

27-29 October 2021 ONLINE

Part of a series of training activities proposed by EJP RD, the training course aims to provide researchers and clinicians with specific trainings on the interpretation of genetic variants and quality standards. In particular, the course will build on expertise gained by EuroGentest and help in the translation of research tools to diagnostic applications.

The impact is on the quality and reliability of NGS results, obtained through rare disease research. At the end of the training course participants will be able to:

• Perform a validation of a pipeline for NGS variants
• Achieve the management of a quality diagnostic laboratory
• Use international databases for rare diseases

Program and course details

Registration open for Reserve List until October 11th , 2021

Registration

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ERN BOND · Istituto Ortopedico Rizzoli · Via di Barbiano, 1/10 · Bologna, BO 40136 · Italy

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