Center for Predictive and Preventive Genetics


For information on genetic tests or for clinical appointments, please go to:



To download our test requesting form, please click here

Or contact us at +351 226074942 or



Previous research results

The CGPP develops its activities in three main areas:

(1) medical genetics clinic and genetic counselling,

(2) genetic testing for hereditary diseases and

(3) training in human genetics for health professionals.

At the outpatient clinic, patients and families with genetic diseases are observed and counselled by a multi-disciplinary team of clinical geneticists, neurologists, haematologists, psychologists & social service. A specific protocol for presymptomatic testing and counselling in late-onset neurological diseases is in place for relatives at-risk.

At our molecular genetics lab, diagnostic, carrier, pre-symptomatic and prenatal tests are available for a large number of diseases, namely dominant and recessive ataxias, Huntington (HD) and HD-like diseases, spastic paraplegias, Wilson, Parkinson, familial Alzheimer and frontotemporal dementia, familial hemiplegic migraine, Charcot-Marie-Tooth, familial amyloidosis, epilepsies, neurofibromatosis and other. A quality management system is in place. The DNA/cell-line bank storages thousands of samples, coupled with clinical and pedigree data, available for research.

The European EQA for SCAs is administered by us, since 2004, for the European Molecular Quality Network. EMQN Best Practice guidelines for genetic testing of the SCAs were developed and consensus and controversies identified and discussed. SCAbase ( is an evidence-based online diagnostic resource for the dominant ataxias (SCAs) and publicly available.

CGPP is the hosting institution for Orphanet-PT ( - the portal for rare diseases and orphan drugs), collecting the national data for the database and translating its contents into PT.

15 EuroGentest leaflets ( for patients and families were developed, revised and/or translated to PT. CGPP participates in other European networks, as EHDN, Euro-Wilson and SPATAX, and collaborates closely with the national patient organizations for ataxias, HD and amyloidosis. CGPP has also been offering consultancy in public policies and ethics, to national health authorities and international organizations, participating in several international guidelines for the OECD, EC, CoE, ESHG, ESHRE and EASAC and FEAM.

Future research goals

CGPP activity  focus on the following services to the community:

Genetic testing mostly for neurological diseases and haemocromatosis. Full list of genetic tests offered is available at;

Genetic counseling, Medical Genetics and Neurology consultations to patients and families, as well as psychological evaluation and follow-up;

Education and training in human and medical genetics for physicians and other health professionals; clinical and lab rotations for medical residents; education for biologists, biochemists and others, in a diagnostic laboratory context; rotations for psychologists, nurses, social service and the professional master course in genetic counselling;

Biobank of DNA, cell lines and other biological materials for potential future studies.


Selected references

Sequeiros J, Seneca S, Martindale J (2010): Consensus and controversies in best practices for molecular genetic testing of the spinocerebellar ataxias. Eur J Hum Genet 18:1188-95

Sequeiros J, Martindale J, Seneca S for EMQN (2010). EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet 18:1173-6

Javaher P, Nyoungui E, Kääriäinen H, Kristoffersson U, Nippert I, Sequeiros J, Schmidtke J (2010). Genetic screening in Europe. Public Health Genomics 13:524-37

Paneque M, Lemos C, Sousa A, Velázquez L, Fleming M, Sequeiros J (2009): Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: experience with the disease, kinship and gender of the transmitting parent. J Genet Couns 18:483-493

Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I (2009): Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. Acta Neurol Scand 119:113-118

Correia AP, Pinto JP, Dias V, Mascarenhas C, Almeida S, Porto G (2009): CAT53 and HFE alleles in Alzheimer’s disease: a putative protective role of the C282Y HFE mutation. Neurosci Lett 457:129-132

Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J (2008): Huntington disease-like 2: the first patient with apparent European ancestry. Clin Genet 73:480-485

Seneca S, Morris MA, Patton S, Elles R, Sequeiros J (2008): Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. Eur J Hum Genet 16:913-920


The IBMC applied to the ON2 program the project IET - Reforço de competências tecnológicas, reference NORTE-01-0162-FEDER-000029

Group Leader
Freixo, João

Home | Site Map | Contacts | Credits | Privacy & Cookies | Intranet | Social Networks |

rua alfredo allen, 208, 4200-135 porto - portugal | tel +351 220 408 800 | email: | © copyright 2010 ibmc