Clinical genetics · precision medicine · rare diseases
Clinical Geneticist · Medical Generalist · Researcher
MD, Faculdade de Medicina de Petrópolis · MSc Medicine, Fiocruz · Medical Genetics Residency, IFF/Fiocruz · Degree recognition, University of Porto · Ordem dos Médicos 75438
Specialist in Medical Genetics focused on the etiological diagnosis of hereditary conditions, congenital malformations, familial disorders and metabolic diseases. I integrate genomics methods with detailed clinical phenotyping, using frontier computing frameworks for data processing and interpretation. My practice is guided by the principles of #P Medicine and grounded in a humanistic approach and personalist bioethical framework, with a profound respect for the inherent dignity of all human life.
The integration of genomic methodologies, molecular epidemiology and deep clinical phenotyping establishes evidence-based frameworks for individualized intervention in hereditary and acquired genetic conditions.
Medical degree from Faculdade de Medicina de Petrópolis with degree equivalence certified by Universidade do Porto. Medical Genetics Residency at Instituto Fernandes Figueira (IFF/Fiocruz), a premier reference centre for rare diseases and dysmorphology. Master's in Medicine Research from Instituto Oswaldo Cruz (Fiocruz).
Clinical workflows integrating predictive, preventive, personalised and participatory approaches. Analysis and interpretation of NGS data (WES and WGS), phenotype–genotype correlation, evaluation of germline and somatic variants (including VUS), and pharmacogenomic protocols for therapeutic optimisation.
Collaborative research in genomic association studies, population screening for rare diseases and precision oncology. Interests: systems genetics, polygenic risk scoring (PRS) and NP-BQP computing optimisation. Committed to a personalist bioethical framework, grounded in respect for the inherent dignity of all human life, applied to clinical practice, reproductive counselling and therapeutic decisions.
Molecular diagnosis of rare endocrine disease through systematic reanalysis of clinical exomes. Variants of uncertain significance and copy-number variants are reclassified against current criteria, candidate findings are taken to functional validation by RT-PCR and minigene assay, and the confirmed result is returned to the family through genetic counselling.
Reclassification of VUS and CNVs under ACMG/AMP 2015 with the ClinGen SVI refinements and, where a gene has one, the specification of its Variant Curation Expert Panel. In-silico predictors and foundation models are used at their calibrated strength and weighed against population evidence, never in place of it.
Interactome analysis for mechanisms no single gene explains. Digenic and oligogenic interactions and disease-gene prioritisation are formulated as QUBO and quantum-walk problems, so that candidates are ranked by their position in the network rather than by literature volume alone.
Reanalysis of exomes left unsolved on first pass, where the answer is usually already in the data and waiting on a reference update, a re-phenotyping, or a criterion that has since moved. The aim is to shorten the diagnostic odyssey, with particular attention to rare endocrine and syndromic conditions.
Design and evidence generation for genetic and rare-disease therapeutics, where cohorts are small and a conventional endpoint may never reach significance. Work runs from biomarker definition and eligibility genotyping through to protocol, with the statistical plan chosen for the size of population that actually exists.
Translating genotype into a dose and a choice of agent: CPIC-guided prescribing, metaboliser phenotypes and drug-gene interactions on the germline side; actionability tiering of somatic variants on the tumour side. The output is a recommendation a prescriber can act on, with its evidence level stated.
A six-volume work on genomic medicine, written in European Portuguese (pt-PT), taking one continuous path from a biological sample through to a prescribing decision — and on to the computational methods, agentic AI and quantum algorithms the field is moving towards. The volumes are readable in full inside the WorkBench.
Do processamento da amostra à chamada de variantes pontuais e estruturais (From sample processing to point and structural variant calling)
The sequencing pipeline end to end: NGS chemistries, Illumina library-to-signal and long reads, the choice between WGS, WES, clinical exome, targeted panels and single cell, reference resources, FASTQ, raw-data quality control, trimming, alignment, SAM/BAM/CRAM, post-processing, alignment QC, variant-calling algorithms, functional annotation, HGVS nomenclature, IGV review, de novo variants in family trios, and structural variation and CNVs.
Da classificação das variantes ao diagnóstico, epigenoma, transcriptoma e risco poligénico (From variant classification to diagnosis, epigenome, transcriptome and polygenic risk)
Pedigrees, Mendelian inheritance and cosegregation; exome intersection and association testing; allele frequencies and in-silico pathogenicity prediction; ACMG/AMP and ClinGen CNV classification and incidental findings; variant prioritisation by network propagation; computational phenotyping from HPO to facial AI; Exomiser and Genomiser; somatic analysis in molecular oncology; then clinical omics — methylome, chromatinopathies, neuro-oncology, pharmaco-epigenetics, transcriptomics, multi-omic integration and polygenic risk scores.
Farmacogenómica, cardiologia, oncologia, endocrinologia, psiquiatria e neurologia de precisão (Pharmacogenomics, and precision cardiology, oncology, endocrinology, psychiatry and neurology)
Precision medicine specialty by specialty. Pharmacogenomic foundations and their use in practice and in drug development; precision cardiology (anticoagulation and antiplatelets, statins, inherited cardiomyopathies, channelopathies, valve disease, coronary disease, hypertension); precision oncology organ by organ, from colorectal and breast to lung, prostate, gastric, renal, thyroid and paediatric haemato-oncology; precision endocrinology (diabetes, osteoporosis, PCOS, thyroid, obesity); precision psychiatry and neurology (depression, schizophrenia, ADHD, bipolar disorder, epilepsy, neurodegeneration, chronic pain).
Manual prático de posologia e ajuste por genótipo (A practical manual of dosing and genotype-guided adjustment)
A bench manual giving a reference dose, the genotype-guided adjustment and the documentary source for 209 drugs: antiplatelets and anticoagulants, lipid-lowering agents, beta-blockers and antiarrhythmics, classical chemotherapy and germline-biomarker agents, targeted oncology across kinase inhibitors, DNA-repair and pathway inhibitors, monoclonal antibodies and conjugates, immunotherapy and cell therapies, antidepressants, antipsychotics and mood stabilisers, ADHD medication, opioids and NSAIDs, endocrinology, epilepsy and neurodegeneration, anti-infectives and immunosuppressants — closing with an index by gene and an index by drug.
Dos modelos de fundação aos agentes aplicados à genética (From foundation models to agents applied to genetics)
Machine learning and deep learning as they are actually used in medical genetics, then foundation models, programmable calls and retrieval-augmented generation, reinforcement learning and sequential decision, and the architecture of a clinical agent — tools, state, protocols and guardrails, the harness and the loop around the model. Applied across AI-assisted bioinformatics, agentic rare-disease diagnosis and reanalysis, computational oncogenetics and pharmacogenetics, population AI and federated learning, computational prenatal, and what it takes to run such a system in production: continuous evaluation, drift, observability, regulation and safety. With a glossary and a subject index.
Dos fundamentos básicos à aplicação crítica (From the basic foundations to critical application)
Built from the ground up: the mathematics and programming a genomicist needs, then the postulates of quantum mechanics, bit to qubit, the Bloch sphere, gate algebra, circuits and Grover search, how a QPU works, noise, decoherence and error correction, entanglement and Bell’s theorem. From there to genomics — encoding high-dimensional genomic data into quantum states, quantum walks for gene prioritisation in networks, Hamiltonian simulation, annealing and biological graph optimisation, quantum machine learning (variational circuits, kernels, QSVM, QNN) and quantum causal discovery. Closes on neuro-symbolic interpretation, the computational operationalisation of the ACMG/AMP rules, and the bioethics of it all.
All six volumes are included with a WorkBench subscription and are read online in the File Manager — no download. They are also sold individually, and as the complete collection, on Amazon.
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