WP3 ACHIEVEMENTS

L u c i a M o n a c o

R D - C o n n e c t A n n u a l M e e t i n g 1 M a y 2 0 1 7 , B e r l i n

2

Where we are

1. EuroBioBank (EBB) To integrate EuroBioBank into RD-Connect mostly done

2. Sample catalogue To populate the RD-Connect sample catalogue with biobanks’ sample

data under way

3. Operations and partnerships To implement the full workflow for including new biobanks done

and for sample management co-development with BBMRI-ERIC

under way

2016 Challenges

3

EuroBioBank integration

75% members have inserted biobank data in the ID-Cards

Website and Charter working groups completed integration assessments

Two-day Sample Catalogue & Tools workshop facilitating direct discussion

between developers and biobankers (23-24 Nov 2016, Milan)

Sample Catalogue

>1000 samples in the production view, >18 000 samples in the staging area

Further alignment of development with BBMRI-ERIC

Sample Negotiator

BIBBOX tool

Panel for Biobank Assessment set up and active

RD-Connect EuroBioBank partnered in the BBMRI-LPC call

hosting of samples from successful projects

NeurOmics and EURenOmics biobanks invited to join

2017 Main AchievementsEB

BSA

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EuroBioBank

5

Step 1: Fill questionnaire and publish ID-Card

Step 2: Map sample data and proceed to uploading

Step 3: Sample data published in the RD-Connect Sample Catalogue

EuroBioBank data integrat ion: work in progress

Training 3 May

ID-Card filled & published

(No. of biobanks)

Sample data mapped & uploading ongoing

(No. of biobanks)

RD-Connect Sample Catalogue

(No. of samples)

TARGETComplete integration

24 biobanks 24 biobanks148 494

(as of Feb 2016)

Current progress 18 biobanks14 biobanks

(82 691 samples)19 478

(24% of samples)

Overall %75%

of all biobanks58%

of all biobanks13%

of all samples

1 2 3

6

*

*

*

*

* Needs updating

To be removed (redundant)

EuroBioBank website: proposed modif icat ions

7

NoteThe pages in yellow are to be directed to RD-Connect

New EuroBioBank si te : under development

8

DEFINITIONS, PREAMBLE, PURPOSE

ETHICAL GUIDELINES ENDORSED BY THE EUROBIOBANK

GOVERNANCE OF THE EUROBIOBANK

The General Assembly

Coordinators

PARTNERSHIP TO THE EUROBIOBANK NETWORK

Benefits attached to partnership

Duties attached to partnership

Applying for partnership

Ending partnership

LIABILITY, DECLARATION

EuroBioBank Charter integration

Cross Cutting

Cross Cutting

9

Data integration ongoing

Website 2016 Working Group work completed

Charter 2016 Working Group work completed

Partnership

RD-Connect EuroBioBank partnered in the 2016 BBMRI-LPC Call and

provided DNA samples for Whole Exome Sequencing of patients and

families with the aim to find a genetic diagnosis for their rare diseases.

This was the first dissemination of biological samples via RD-Connect

biobanks

EuroBioBank integrat ion - summary

Cross Cutting

Breakout

Sample Catalogue & Operations

11

Final preparation to move into production at the RD-Connect

platform hosted by CNAG

https://samples.rd-connect.eu/

TNGB integrated into their systems tools for publishing

samples to the catalogue

Data from ISCIII, NCU, UCL, TNGB ready to load in production

Improvements to the software: support for FAIR, BBMRI-ERIC

Negotiator; improved data integration tools

Sample Catalogue

Cross Cutting

Training 3 May

12

BIBBOX: Software as a Service (SaaS) for Biobanks developed by B3Africa (H2020) / BBMRI-ERIC Common Service IT

Toolbox for System Administrators

Rare Disease Demo Demonstrate Software tools for small and medium biobanks

Demonstrate Data Integration and harmonization

Proof of Concept for hosted services

5 Biobanks, 4 clinicians/researchers, 30 patients, 40 samples (virtual data)

Software Tools

PhenoTips: HPO, Genotype, Phynotpe Information

OpenSpecimen: LIMS for Sample Handling

Owncloud: Management of files and documents

BIBBOX: IT toolbox for biobanks

Cross Cutting

13

Panel for Biobank Assessment

Chiara Baldo EuroBioBank Member biobank Ospedale Galliera, Genoa, Italy

Meral Özgüç EuroBioBank Member biobank Hacettepe University, Ankara, Turkey

Manuel Posada EuroBioBank Member biobankRD-Connect WP2, WP3 partner

ISCIII-Rare Diseases Research Institute, Madrid, Spain

David van Enckevort RD-Connect WP3 biobank IT University Medical Center Groningen, Gronigen, Netherlands

Marieke van Meel Patient representative, Member of PEC/PAC, EURenOmics SAB

NephcEurope, Netherlands

• Set up May 2016• Admitted 1 new RD biobank

14

Publications

2 publications planned on RD-Connect biobank management (general

philosophy and set-up) and on sample catalogue (technical set-up)

Sample upload

EBB data completed

Sample workflow

Bibbox and sample negotiator implemented

New biobanks inclusions

NeurOmics and EURenOmics biobanks

Challenges/next steps for 2017

15

Acknowledgements/collaborations

WP3 BiobankingChiuhui Mary WangStefano Benvenuti

ID-CardHeimo MuellerRobert Reihs

Sample CatalogueDavid v. EnckevortMorris SwertzMariska Slofstra Marije v.d. Geest

Roxana Merino Martinez

EuroBioBankMarina MoraManuel PosadaMeral ÖzgüçChiara Baldo& biobank members

Lorena Casareto

Special thanksMarieke van Meel

Petr HolubJan-Eric Litton

Backup slides

• Biobank pending integration• Biobank ID-Card published• Non-biobank Associations

The RD-Connect Biobank Network

2017: 24 RD biobank members

18

EuroBioBank data integration

BiobankID-Cards

6Pending

18Published

14 Sample data mapped. Data uploading to Sample Catalogue ongoing:

1286

18192

130302

*Shared catalogue Feb 2016

Total samples148,494*

Samples82,691*

(14 biobanks)

1286

19128

63563

Production

Staging

Training 3May