Dr. José M. Millán, PhD Deputy Director of CIBERER Universitary Hospital La Fe, Valencia, Spain 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 Dublin March 26, 2012

Research in Rare Diseases in Spain Historial Overview Creation of CISAT (Centre for the Research of the Toxic Oil) in the Institute of Health Carlos III (ISCIII) Rare Diseases are included by ISCIII as a Main Topic for its Research Programme 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) 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 CIBERER (Centre for Biomedical Network Research on Rare Diseases)

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

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

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. !! Epidemiology Barriers in Rare Diseases Research

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 Basic and Clinical Research Natural History, Physiopathology, Genetics, Disease Models... Barriers in Rare Diseases Research

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) Therapy Barriers in Rare Diseases Research

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 Training Barriers in Rare Diseases Research

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

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

coordinate and foster research 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. Cooperative Research Translational Research 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. strategic coordination 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. over 700 persons 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 our personnel are PhD associate researchers. Centre for Biomedical Network Research on Rare Diseases (CIBERER)