Dr. José M. Millán, PhDDr. José M. Millán, PhDDeputy Director of CIBERERDeputy Director of CIBERERUniversitary Hospital La Fe, Valencia, SpainUniversitary Hospital La Fe, Valencia, Spain

Barriers and Challenges in Rare Diseases ResearchBarriers and Challenges in Rare Diseases ResearchCentre for Biomedical Network Research on Rare Diseases Centre for Biomedical Network Research on Rare Diseases

(CIBERER)(CIBERER)A model of cooperative and translational research on rare A model of cooperative and translational research on rare

diseasesdiseases

DublinMarch 26, 2012

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)

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 SystemMinistry 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?Why research on rare diseases is needed?

Social reasons

Medical reasons

Scientific reasons

Rare Diseases ResearchRare Diseases Research

Supranational Supranational collaborationcollaboration

• European Networks of CoE, ECN• European policy: fostering national plans• European platforms & infrastructures• Patient empowerment

Multidisciplinary andMultidisciplinary andIntegrative approachIntegrative approach

• National Centres of Expertise (CoE)• Clinical investigation/Basic research• National research networks• Databases, registries, biobanks, epidemiological surveillance• Pharmaceuticals and biotechs

Socialfactor

Political factor

Healthcaresystem

SocietySociety

Financial factor

Training factor

Human factor

Research groupsResearch groups

CIBERER: An integrative proposalCIBERER: An integrative proposal

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 coordinate and foster research into Rare Diseases in Spain.

CIBERER groups clinical and basic researchers promoting Cooperative ResearchCooperative Research. The knowledge generated is translated from the laboratory to clinical practice, and vice versa: Translational Translational ResearchResearch.

CIBERER provides strategic coordinationstrategic 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 personsover 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 53% of our personnel are PhD associate researchers. PhD associate researchers.

Centre for Biomedical Network Research on Centre for Biomedical Network Research on Rare Diseases (CIBERER)Rare Diseases (CIBERER)