A symposium and round table organized by the Faculdade de Ciências Médicas of Lisbon and the Chronic Diseases Research Center – CEDOC- will bring together main stakeholders:

Topic 1- Rare diseases from the clinician perspective

• Professor Jaak Jaeken, the medical doctor that described the first cases of CDG back in 1980. (University Hospital Gasthuisberg, Center for Metabolic Diseases, Leuven, Belgium);

“Congenital Diseases of Glycosylation: an exercise in dysmorphology” - PDF

• Doutor Luís Brito Avô, medical doctor from Santa Maria Hospital, Lisbon, Portugal

“Metabolic rare disease in the adults” - PDF

• Doutor Luís Nunes, medical doctor from Dona Estefânea Hospital, Lisbon, Portugal

“Genetic diagnostic in rare diseases” - PDF

Topic 2- Rare diseases from the basic research perspective

· Professor Paula Videira (Assistant Professor, group leader of Glycoimmunology Group at Faculdade de Ciências Médicas, Nova University of Lisbon/ Chronic Diseases Research Center (CEDOC)

“From cell to patients: The need for translation” - PDF

· Doctor Cláudio M. Gomes (Researcher at Instituto Tecnologia Quimica e Biológica, Universidade Nova de Lisboa, Portugal)

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

· Doctor Sara Maia (Post-doctoral Researcher in CEDOC, Faculdade de Ciências Médicas, Nova University of Lisbon, Lisbon, Portugal)

“Choroideremia: from bench to bed side” - PDF

· Professor Miguel Seabra (President at Fundação para a Ciência e Tecnologia (FCT))

• Professor Amélia Pilar Rauter (Associate Professor with Habilitation at Faculdade de Ciências, University of Lisbon, Member of the Steering Committee and Executive for Glycochemistry of the ESF Research Network Euroglycoscience Forum , Secretary of IUPAC Division III Subcommittee on Biomolecular Chemistry)

“Drug design for rare diseases: challenges”

Topic 3- Rare diseases from Community Association perspectives

• Doctor Vanessa Ferreira (sibling to Liliana Ferreira, President and founder for the Portuguese CDG Association and other Rare Metabolic Disorders (APCDG-DMR), member for the Spanish CDG organization, moderator at CDG Rare connect (EURORDIS) and Cell Biologist).

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

Topic 4 – Information and Communication on rare diseases

• Marta Campabadal, RareConnect, EURORDIS, rareconnect.org

“Connecting Rare Disease Patients Globally – RareConnect” - PDF

• Doctor Sandra Peixoto, Information Scientist, ORPHANET – Portugal, www.orpha.net  www.orpha.net/national/PT-PT/

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

Round table - Putting all together

chaired by

Doctor Salomé de Almeida (Centro de Investigação Centro Hospitalar de Lisboa Central, Portugal; CEDOC)