8.30 - 8.50: To gather together (coffee and viennoiseries will be served)

8.50 - 9.00: Professor Paula Videira Welcome and introduction

Topic 1 - Rare diseases from the clinician perspective

Chaired by Doctor Vanessa Ferreira and Doctor Salomé de Almeida

9.00 - 9.40: Professor Jaak Jaeken (Keynote speaker)

“‘Congenital Diseases of Glycosylation: an exercise in dysmorphology’”

9.40 - 10.10: Doctor Luís Nunes/Doctor Salomé de Almeida

“Genetic diagnostic in rare diseases”

10.10 - 10.40: Doctor Luís Brito Avô

“Metabolic rare disease in the adults”

Topic 2 - Rare diseases from the basic research perspective

Chaired by Professor Paula Videira and Doctor Salomé de Almeida

10.40 - 10.50: Professor Paula Videira

                   “From cell to patients: The need for translation”

10.50 - 11.00: Doctor Cláudio M. Gomes

             "Protein misfolding and rare metabolic diseases: from proteins, to drugs and organisms"

11.00 - 11.30: Discussion (coffee and viennoiseries will be served)

11.30 - 11.45: Doctor Sara Maia/Professor Miguel Seabra

            “Choroideremia from bench to bedside”

11.45 - 12.00: Professor Amélia Pilar Rauter

            “Drug design for rare diseases: challenges”

Topic 3 - Rare diseases from Community Association perspectives

Chaired by Professor Jaak Jaeken

12.00 - 12.25: Doctor Vanessa Ferreira

 “The role of the Portuguese Association for CDG and other Rare Metabolic   Disorders in the Biomedical research”

Topic 4 – Information and Communication

Chaired by Doctor Vanessa Ferreira and Professor Paula Videira

12.25 - 12.45: Marta Campabadal

“Connecting Rare Disease Patients Globally – RareConnect”, EURORDIS

12.45 - 13.10: Doctor Sandra Peixoto

 “ORPHANET-PT – the reference database for rare diseases and orphan drugs in Portugal “

13.10 - 15.00: Lunch and Round table discussion will be open (lunch is available)

Round table – Putting all together, moderated by the organizers

Topics:

· How to improve relationships between science and society.

· Contribution to increase awareness of different aspects of rare diseases.

· How to improve better articulation between innovative therapies and the healthcare system.

· Information and communication – Where is the disease and patient’s information; how to keep informed; how to be connected; the contribution from ORPHANET and EURORDIS.

15.00: Distribution of certificates of attendance