Where Ideas Grow


19th Portugaliæ Genetica
Phenotypic Manifestation of Genetic Heterogeneity

12-13 March 2020 | i3S, Porto, Portugal


The 19th Edition of Portugaliæ Genetica is devoted to the broad theme "Phenotypic Manifestation of Genetic Heterogeneity" and will have a transversal programme covering exciting topics bridging population genetics, evolution and functional genomics with health applications. In particular, it will cover inter and intra-species genetic diversity and its impact in diseases such as cancer, autism and neurodegenerative diseases; the role of genome evolution in phenotypic outcomes and interspecies bridging in disease modelling. The event hopes to contribute to the promotion of collaboration between researchers across these fields.



The meeting will be held at i3S - Instituto de Investigação e Inovação em Saúde, University of Porto, in Auditorium Corino de Andrade.


The i3S consortium, headed by the UPorto, brings together four institutions and researchers from several schools of the UPorto, thus consolidating an extensive collaboration between all institutions that spans many years.
I3S stems from the long-term collaboration between IBMC, INEB and IPATIMUP and encompasses joint projects, co-supervision of PhD students, sharing of large equipment and employment of research staff under coordinated policies. Six schools of the UPorto (FMUP, ICBAS, FMDUP, FCUP, FEUP and FFUP) and three hospitals (CH S João, CH Porto and IPO) also contribute to the activities of i3S. This wide participation of schools, research institutions and hospitals in a research institute is unique in Portugal and is a valuable asset for science and technology development, while creating an environment that feeds real breakthrough research and translation of discoveries into the clinic. The new building - completed in 2015 - is also a key element in the creation of this vibrant environment. This intricate network that is i3S focuses on three Integrative Programs: Cancer, Host Interaction and Response, and Neurobiology and Neurologic Disorders.



Rua Alfredo Allen, 208; 4200-135 Porto, Portugal
Tel: +351 220 408 800 | Site: http://www.i3s.up.pt/ | E-mail: events@i3s.up.pt
GPS coordinates: 41º 10' 30.008'' N, 8º 36' 12.488'' W.


Organizing Committee (i3S/Ipatimup):
Iva Gomes | Manuela Oliveira | Mónica Marques | Verónica Gomes


Scientific Committee (i3S/Ipatimup):
Iva Gomes | Luísa Azevedo


Invited Scientific Committee (i3S/IBMC):
Elsa Logarinho | José Bessa


Thursday, 12th March 2020

09.00 Registration

09.30 Welcome Note, Iva Gomes | i3S, Porto, Portugal
Opening Session, António Amorim | i3S, Porto, Portugal


SESSION 1 | Phenotypic outcomes of genome evolution

Chair 1: José Bessa | i3S, Porto, Portugal

10.00 Parallel evolution of neural microexons in insects and vertebrates
Manuel Irimia | Centre for Genomic Regulation, Barcelona, Spain

11.00 Coffee Break

11.30 Phenotypes Lost and the Anthropocene
Filipe Castro | CIIMAR, Porto, Portugal

12.15 Genetic and environmental determinants of phenotypic variation in complex traits
Patrícia Beldade | Faculdade de Ciências da Universidade de Lisboa and Instituto Gulbenkian de Ciências, Portugal

13.00 Presentation by Pfizer

13.15 Lunch break and poster session


SESSION 2 | Intra-species heterogeneity

Chair 2: Elsa Logarinho | i3S, Porto, Portugal

14.30 Genomic evolution of cancer models: Perils and opportunities
Uri Ben-David | Tel Aviv University, Israel

15.30 The European rabbit (Oryctolagus cuniculus) is an amazing model for almost everything
Pedro Esteves | CIBIO-InBIO, Porto, Portugal

16.15 Coffee Break

16.45 Livestock genomes: It’s all there, you just need to select
Albano Beja-Pereira | CIBIO-InBIO, Porto, Portugal

Short oral communication session

17.30 Phenotypic expression of extreme genetic heterogeneity: one patient, two diseases 
João Freixo | i3S, Porto, Portugal 

17.45 The evolution of an adaptive polymorphism: seasonal colour variation in the least weasel 
Inês Miranda |CIBIO-InBIO, Porto, Portugal


Friday, 13th March 2020

SESSION 3 | Impact of genetic heterogeneity in diseases

Chair 3: António Amorim | i3S, Porto, Portugal

9.30 Autism spectrum disorders: an example of genetic heterogeneity
Angel Carracedo | University of Santiago de Compostela, Spain

10.30 Coffee Break (sponsored by BioPortugal)

11.00 Immunosurveillance: a major driver of intra-tumor genetic heterogeneity
José Carlos Machado | i3S, Porto, Portugal

11.45 Rodent malaria models: Insights into parasite biology and implications on vaccines design
Joana Tavares | i3S, Porto, Portugal

Short oral communication session

12.30 Scuba Cancers: clonal structure and heterogeneity of transmissible cancers 
Alicia L. Bruzos | University of Santiago de Compostela, Spain

12.45 Complexity through the Mendelian Eyeglass
Suzana David | Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA,IP)

13.00 Presentation by BioPortugal

13.15 Lunch break and poster session


SESSION 4 | Interspecies bridging in disease modeling

Chair 4: Luísa Azevedo | i3S, Porto, Portugal

14.15 Zebrafish as a Model in the Study of Human Diseases
Laura Sanchéz | University of Santiago de Compostela, Spain

15.15 Drug and target discovery for neurodegenerative diseases using a multi-species approach
Patricia Maciel | University of Minho, Braga, Portugal

16.00 Coffee Break

16.30 Quality and validity in animal research
Anna Olsson | i3S, Porto, Portugal

Short oral communication session

17.15 Intercellular Communication and Resistance to Targeted Therapy in Cancer
Susana Neto | i3S, Porto, Portugal

17.30 Genome-wide scan for brain oscillatory phenotypes in a cohort of Alzheimer’s patients and controls
Miguel Rebelo | i3S, Porto, Portugal

17.45 Closing Session

Abstract Submission

The call for abstracts will be open until 10th of February (notification of acceptance until the 18th of February).

The meeting will include poster sessions and the selection of 4 abstracts for short oral communications as part of the program, during which contributors will have the opportunity to introduce and attract attention to their research. During submission of abstracts, candidates can select their preference for oral or poster presentation format.


The participants should use the layout provided here:


The best poster will be awarded prize money sponsored by Pfizer.

Abstracts Guidelines:
- Title is limited to 150 characters (including spaces)
- Abstracts are limited to 1500 characters (including spaces; authors and affiliations excluded) - Define all non-standard abbreviations at first use
- Images cannot be included in the abstract
- Abstracts should be submitted through the web interface


Registration fee includes coffee breaks, lunches and conference material.

i3S members & students - €60
External members - €80


Registration Deadline: 21st February 2020
Payment Deadline: 24th February 2020















Events Management Unit | Rua Alfredo Allen 208 | 4200-135 Porto, Portugal
Email: events@i3s.up.pt | Tel: +351 220 408 800