#EBW25 Previews: 5A: Rare Disease Biobank Insights
Rare diseases, which affect fewer than 1 in 2,000 people, pose unique challenges to research and healthcare, often due to limited sample availability and the diverse nature of these diseases. In this session, we will explore the intricacies of biobanking and its key role in accelerating rare disease research as well as the active contribution of rare disease patients to understanding human health.
This session will be chaired by:
Dr. Hélène Blanché
Dr. Hélène Blanché heads the CEPH Biobank, a biobank located at the Fondation Jean Dausset-CEPH in Paris, France. The CEPH-Biobank is dedicated to human research projects, particularly in genomics. She has organised the CEPH-Biobank to achieve the high throughput levels required for major international programs, while establishing a quality management system that was ISO20387 certified in March 2020, a first in Europe.
Since 2022, as part of the BioCF (Biobanque des Cohortes Françaises) project, she has been responsible for the biological sample collections of the French national cohorts CONSTANCES, E3N-Générations, ELFE, EPIPAGE2 and GAZEL. She is in charge of organising projects, developing/optimising procedures and protocols, and coordinating biobank activities with a team composed of 6 people. She holds a PhD in molecular biology and human genetics from the Université Pierre et Marie Curie in Paris. She teaches in the master’s program in Biobanking at the Catholic University of Lyon.
Dr. Sissy Kolyva
Dr. Sissy Kolyva served as détachée at the General Secretariat for Research and Technology in the Department of European Affairs from 2003 to 2012. She is a delegate of Greece in several European initiatives and programmes such the CS1 of HORIZON2020, the Innovative Medicines Initiative, Joint Programming Initiatives, JPND (Neurogenerative Diseases), JAMPR (Antimicrobial Resistance) and she is a member of the Greek delegation to the European Research Area and Innovation Committee (ERAC), MSCA Horizon Europe and in the Assembly of Members of BBMRI-ERIC, Member of the Steering Committee of the AoM of BBMRI-ERIC, ECRIN-ERIC, Infrafrontier-ERIC.
As Head of the Scientific Collaboration Department of the Hellenic Pasteur Institute, she is responsible for the collaboration with the Greek pharma industry and the development of collaborations with other research centres and universities. She is a representative of the HPI in the high level experts group of the Ministry of Health, Chair of the Scientific Council of the HPI, member of the Gender Equity Committee of HPI and responsible for the Technology Transfer Office of HPI.
As an active member of the Pasteur Network, she supports the Responsible Research and Innovation activities of the Institute and promotes the gender issues in the research content. She is also a collaborator of the Institute of Applied Biosciences of CERTH for research infrastructures management and policy and lead of the Hellenic Pasteur Institute in the projects: 101195079 — BE READY Plus and 101226682 — BE READY NOW “Pandemic Preparedness Partnership”.
Session details
- Date: Thursday 15 May
- Time: 09:00-10:30