Dr. José M. Millán, PhD Deputy Director of CIBERER Universitary Hospital La Fe, Valencia, Spain

1. Barriers and Challenges in Rare Diseases Research Centre for Biomedical Network Research on Rare Diseases (CIBERER)A model of cooperative and translational research on rare diseases Dr. José M. Millán, PhD Deputy Director of CIBERER Universitary Hospital La Fe, Valencia, Spain Dublin March 26, 2012

2. Research in Rare Diseases in Spain Historial Overview • 1996. Creation of CISAT (Centre for the Research of the Toxic Oil) in the Institute of Health Carlos III (ISCIII) • 2000. Rare Diseases are included by ISCIII as a Main Topic for its Research Programme. • 2001. CISAT becomes CISATER (Centre for the Research of the Toxic Oil and Rare Diseases). Creation of SIERE (Service of Information on Rare Diseases in Spanish). • 2003. RETICs (Networks for Thematic Research): REpIER, INERGEN y RECGEN (One epidemiological network and two genetic research networks on RD. CISATER is then named IIER (Institute for Research in Rare Diseases • 2006. CIBERER (Centre for Biomedical Network Research on Rare Diseases)

3. Prioritary Biomedical Research Topics • CNIO: National Centre for Oncology Research • CNIC: National Centre for Cardiovascular Research • CIBERS: • CIBERNED: Neurodegenerative disorders • CIBERES: Respiratory disorders • CIBERHED: Hepatic and digestive disorders • CIBEROBN: Obesity and Nutrition • CIBERDEM: Diabetes and associated metabolic disorders • CIBERBBN: Bioengineering, Biomaterials and Nanomedicine • CIBERER: Rare Diseases • CIBERESP: Epidemiology and Public Health • CIBERSAM: Mental Health

4. 2009. Strategy for Rare Diseases of the National Health SystemMinistry of Health and Social Policy Coordinator: Prof. Francesc Palau • Needs: • Information • Prevention and Early Diagnosis • Health and Social Care • Therapy • Research • Training

5. Barriers in Rare Diseases Research Epidemiology • Lack of knowledge, lack of information • Deficient or inexistent health registries for many rare diseases and difficult coding according to the ICD system of classification • Difficulties for epidemiological studies • Visibility • To identify the current human and information resources • To set up registries for each rare disease and for rare diseases as a global problem • To ascertain the medical/ economical burden of rare diseases • Beware of Dr. !!

6. Barriers in Rare Diseases Research Basic and Clinical Research Natural History, Physiopathology, Genetics, Disease Models... • The budget for biomedical research in Spain is low compared to other EU countries (0.9% GDP) • The budget for rare diseases is low compared to common diseases • To stimulate future R&D projects within the Health Strategic Actions • To promote the priorization of research projects on rare diseases • To create, maintain and improve necessary structures, facilities and human resources

7. Barriers in Rare Diseases Research Therapy • Lack of interest of the Pharma industry (too much investment for too low economical benefit) • Very few emerging small companies interested in • Not many laboratories working in therapies for rare diseases • To promote interest and financial support from the Public Health System and Pharma enterprises • Collaboration with Pharma Industry and Biotechs • To promote research in orphan drugs - advanced therapies (gene-based therapy and cell therapy)

8. Barriers in Rare Diseases Research Training • In Spain there is not a formal specialty in Clinical Genetics • Rare diseases are not a topic in Universities, Medicine Schools... • Students and scientist are more prone to common diseases (Cancer, AIDS, Alzheimer dis., Cardiovascular dis...) • Difficulties in making a carrier in genetics and rare diseases • Creation of the specialty in Clinical Genetics (for physicians, biomedical sciences, psicology...(AEGH and CIBERER) • Courses, masters, academic topics devoted to rare diseases

9. Why research on rare diseases is needed? • Social reasons • Medical reasons • Scientific reasons

10. National Centres of Expertise (CoE) • Clinical investigation/Basic research • National research networks • Databases, registries, biobanks, • epidemiological surveillance • Pharmaceuticals and biotechs Multidisciplinary and Integrative approach Rare Diseases Research Supranational collaboration • European Networks of CoE, ECN • European policy: fostering • national plans • European platforms & infrastructures • Patient empowerment CIBERER: An integrative proposal Human factor Financial factor Training factor Research groups Society Healthcare system Social factor Political factor

11. Centre for Biomedical Network Research on Rare Diseases (CIBERER) CIBERER is a public consortium set up at the initiative of the Institute of Health Carlos III (ISCIII) to act as a reference to coordinate and foster research into Rare Diseases in Spain. CIBERER groups clinical and basic researchers promoting Cooperative Research. The knowledge generated is translated from the laboratory to clinical practice, and vice versa: Translational Research. CIBERER provides strategic coordination, human resources and materials as well as a collaborative environment where synergy proper to high multidisciplinary and complementary research potential can be developed. The CIBERER has large human resources - over 700 persons, made up of its own staff of 159 CIBERER contracted researchers, the rest of the members of the groups being scientists and technicians attached to CIBERER. 53% of ourpersonnel are PhDassociateresearchers.