Global Perspectives on Biobanking and Access to Samples June 23, 2017

1. Rare diseases biological samples:
small collections and research
Spanish National Rare Diseases Biobank
(BioNER)
Global Perspective on Biobanking
and Access to Samples
June 23, 2017 at 10AM EDT
Sponsored by the NIH Data Science Interest Group

2. Questions
• Spanish National Rare Diseases
Biobank -BioNER
• National framework
• European framework
• Biological samples and Rare Diseases

3. Spanish National Rare Disease Biobank BioNER was created by Minsiterial Order of
November 14th, 2013 by the Ministry of Economy, Competitiveness and Industry.
BioNER is a resource of the Institute of Health Carlos III -ISCIII, while the operational
and functional responsibilities lies with the Rare Diseases Research Institute - IIER.
Biobanco IIER (CISAT):
- Recolección de muestras del
SAT distribuidas en hospitales/
CNA
- Visita albiobancodel CDC
- Acuerdos con el CDC y la FJD
- Comité de Ética del CISAT en
colaboración con los IRB de los
CDC
Socio de ISBER
junto con CNIO
5ª Programa Marco:
Socio fundador de
EuroBioBank (EBB)
Implantaci ón del
biobanco con
muestras del SAT
1986 - 1989 2000 2002 2004 2005 2006 2008 2010 2011 2012 2013 … 20171986 - 1989 2000 2002 2004 2005 2006 2008 2010 2011 2012 2013 … 2017
6º programa Marco:
EBB partner del
proyecto TREAT -NMD
ESFRI -BBMRI
Socio de RetBioH,
ISCIII
7º Programa Marco.
Proyecto RD -CONNECT
(IRDiRC)

4. To establish a framework and infrastructure for
the systematic collection of biological samples
and related clinical data from patients affected
by Rare Diseases, their families and controls
To promote research and to support the
development of diagnosis and treatments
Open access with wide-scale data sharing and
collaboration
AIM

5. Ethics means more than informed
consents
BioNER ethical norms for sample
handling
- Informed consent
- External Human Research Ethics
Committee
- Scientific Committee
- Material transfer agreement
- Donor privacy

6. Connecting Biobanks and
Registries
Spanish Rare
Diseases
Patients
Registry
Spanish
National Rare
Diseases
Biobank
(BioNER)
https://registroraras.isciii.es/biobanco_iier@isciii.es

7. Distribution of donors by RD (ICD10)

8. Brochures
Visibility and Dissemination
http://bioner.Isciii.es http://www.eurobiobank.org
CATALOGUE

10. National Biospecimen Network
Key principles :
•Standardized biospecimen collection and
distribution procedures
•Standardized data sets and data
vocabulary
•Harmonized approached to ethical and
legal issues
•Standardized consent, MTAs
•Transparent governance and business
models
•Transparent access policies
•Large well-designed specimen sets for a
variety of research questions
http://www.redbiobancos.es

11. EU
BioNER
and National
networks
RegistriesBiobanks

12. 18 July 2017
Genomic analysis and
gene discovery
Standardized phenotypic
data collection
Searchable catalogue of
biosamples
Data linkage across
resources
Omics data, clinical data
and biosamples from
individual with RD
Disease-causing variant can be
identified using the genomics
analysis platform
Infrastructure for data
sharing in rare disease
research
Flagship IRDiRC project
implementing IRDiRC
policies and guidelines on
data sharing
EU 7th Framework
Programme,
12M EUR, 6 years
Sample is findable in
the Sample
Catalogue
Registry data in the ID-
Cards directory of
registries and biobanks
Biobank
Registry
Biomarker
study
Clinical
trial
Natural
history
Overcoming Silos
Data sharing for research
and better data analysis

13. Thank you
Acknowledgements
Villaverde-Hueso A, Alonso V, Alonso J, Gómez-Mariano G,
Martínez, B and Posada de la Paz M
Institute of Rare Diseases Research (IIER) - Instituto de Salud
Carlos III
Spanish Rare Diseases Registries Research Network
(SpainRDR)