1st Meeting of ORPHANET-Portugal on Rare Diseases and Orphan Drugs and Regulation of Genetic Testing

20 APRIL | IBMC AUDITORIUM | PORTO | FREE ENTRANCE

As part of the celebration of DNA Day 2012 will take place on April 20th as "Days of I-Orphanet Portugal on Rare Diseases and Orphan Drugs." The meeting will be held at the Instituto de Biologia Molecular e Celular (IBMC) and the organization will have the Orphanet team in Portugal. 

This event has already confirmed the presence of Prof. Segolene Ayme (ORPHANET the founder and current president of EUCERD - "European Union Committee of Experts on Rare Diseases" at the European Commission). During the morning held the 1st meeting of the Scientific Council of the Orphanet-Portugal. 

During the afternoon the topics discussed will include the current state of the Rare Disease Program, Centers of Reference (Networks and European Centers of Reference) for Rare Diseases and Cards for People with Rare Diseases, as well as to discuss the current state regulation of the quality of laboratory and genetic tests, with the presence of health authorities, regulators and politicians.

PROGRAMME:
11h00-13h00   Meeting of the Scientific Advisory Board of ORPHANET-PT
followed by snack-lunch and discussion; reserved to ORPHANET team and its SAB members


14h00-14h20  Official Opening
Secretário de Estado Adjunto do Ministro da Saúde, Dr. Leal da Costa
Presidente da ERS (Entidade Reguladora da Saúde), Prof. Jorge Simões
Diretor-Geral da Saúde, Dr. Francisco George
Vice-Presidente da ACSS (Administração Central do Sistema de Saúde), Dr. Rui Santos*
Presidente do INSA (Instituto Nacional de Saúde Dr. Ricardo Jorge), Prof. Pereira Miguel
Presidente do INFARMED (Autoridade Nacional do Medicamento e Produtos de Saúde I.P.), Prof. Jorge Torgal
Ordem dos Médicos, Membro da Direção da SRN
Presidente da FCT (Fundação para a Ciência e Tecnologia), Prof. Miguel Seabra
CEIC (Comissão de Ética para a Investigação Clínica), Drª Margarida Lima
Diretor do IBMC, Prof. Claudio Sunkel

I. RARE DISEASES AND NATIONAL PLANS FOR RARE DISEASES IN PORTUGAL AND IN EUROPE

14h20   ORPHANET and EUCERD and the National Plans for Rare Diseases and Orphan Drugs in Europe
Keynote speaker: Pr. Ségolène Aymé, INSERM, France; Founder of ORPHANET, Director of EUCERD (EC)
(moderator: Profª Heloísa Santos)

Round-table: Rare Diseases and Orphan Drugs in Portugal (moderator: Dr. Francisco George)
14h50  National Plan for Rare Diseases in Portugal, Centres of Reference and RD Cards - Enfº Fernando Guerra (Dir.-Geral Saúde)
15h00  Regulation of Orphan Drugs in Portugal - Prof. Jorge Torgal (Presidente, INFARMED)
15h10  Research Programmes in Portugal on Rare Diseases and Orphan Drugs - Drª Anabela Isidro (FCT)
15h20  General Discussion with the participation of Pr. Ségolène Aymé, health authorities, regulators, professionals and federations of patients’ associations

16h00  Coffee-break

II. QUALITY AND REGULATION OF GENETIC TESTING IN PORTUGAL

Round-table: Regulation of Offer and Quality of Medical Genetic Testing in Portugal (moderator: Prof. Jorge Torgal)

16h15  OCDE BP Guidelines for MGT and the CoE Additional Protocol on Genetic Tests for Health Purposes - Prof. Jorge Sequeiros (ORPHANET-PT)
16h35  Quality of genetic testing - Prof. Manuel Teixeira (President, Sociedade Portuguesa de Genética Humana)
16h45  Licencing and accreditation of medical genetics laboratories - Dr. João Gonçalves (Molecular geneticist, INSA)
16h55  Quality of Medical Genetics Services - Profª Purificação Tavares (Colégio de Genética Médica, Ordem dos Médicos)
17h05  Regulatory aspects - Dr Nina Sousa Santos (Jurist, Direção-Geral Saúde)
17h15  General Discussion with the participation of health authorities, regulators, professionals, patients associations
representatives (Aliança and FEDRA) and representatives of parliament political parties (PSD- Dr. Miguel Santos*,
PS- Drª Maria de Belém Roseira, CDS-PP - Dr. João Moreira Pinto, PCP*, BE- Dr. João Semedo, PEV- Drª Heloísa Apolónia*)


18h00   End of the meeting and “Douro de Honra”: presentation of “Prize Rola-Braz” and launch of Douro wine “Quinta de Remostias”

Organization: ORPHANET-PORTUGAL
Jorge Sequeiros (national coordinator) Jorge Pinto Basto (projector manager) and Sandra Peixoto (information scientist)
^{* to be confirmed}

POSTER AND PROGRAMME - PDF