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.
An interactive Clinical Decision Support System with integrated access to genetic-analysis scripts, risk calculators and bioinformatics pipelines — for professionals requiring computational tools for genomic interpretation.
An emulated desktop environment for modular workflows — parallel variant annotation, pathway analysis and clinical correlation, with direct access to global reference databases.
NGS pipelines (QC, alignment, calling), pathogenicity predictors, and clinical calculators for polygenic risk and pharmacogenetic dosing.
How Medical Genetics and its subspecialties drive etiological investigation, prognostic stratification and personalized therapy.
Medical Genetics is a medical specialty focused on the diagnosis, management, and counseling related to hereditary conditions and genetic disorders. It encompasses the study of chromosomal abnormalities, single-gene (Mendelian) disorders, and complex multifactorial diseases.
You should seek a clinical geneticist if you have a personal or family history of congenital malformations, intellectual disability, multiple miscarriages, hereditary cancers, or any condition where a genetic etiology is suspected. Early genetic evaluation is also critical for newborns with abnormal screening results.
The field is broadly divided into: Clinical Genetics (dysmorphology, syndrome diagnosis), Molecular Genetics (DNA-level analysis, NGS, gene panels), Cytogenetics (chromosomal analysis via karyotype, FISH, Chromosomal Microarray), Biochemical Genetics (inborn errors of metabolism, enzyme assays), and Cancer Genetics (hereditary cancer syndromes, somatic tumor profiling).
Each subspecialty uses distinct diagnostic tools but they are increasingly integrated through comprehensive genomic platforms that provide a unified clinical picture.
Next-Generation Sequencing (NGS) allows for the simultaneous analysis of thousands of genes, drastically reducing diagnostic odysseys. Key applications include: (1) Whole Exome Sequencing (WES): the protein-coding regions of all ~20,000 genes; (2) Whole Genome Sequencing (WGS): a complete view including non-coding regulatory regions; (3) Gene Panels: targeted analysis of specific gene sets.
The interpretation pipeline involves variant calling, annotation against databases (ClinVar, gnomAD), and careful phenotype–genotype correlation.
Epigenetics studies heritable changes in gene expression that do not involve alterations to the DNA sequence itself — DNA methylation, histone modification, and non-coding RNA regulation.
Clinically, epigenetic signatures diagnose imprinting disorders (e.g., Prader-Willi, Angelman), classify tumors by methylation profile, and explain how environmental factors influence gene expression across generations. It bridges genotype and phenotype.
This subspecialty focuses on genetic risk assessment during family planning and pregnancy: Non-Invasive Prenatal Testing (NIPT), carrier screening, and invasive diagnostics (CVS / amniocentesis).
Our approach is deeply guided by a personalist bioethical framework, respecting the inherent dignity of all human life while providing parents with comprehensive, transparent medical information to support informed decisions.
Pharmacogenomics uses your unique genetic profile (specifically CYP450 enzymes) to predict drug metabolism, selecting the right drug at the right dose.
It is critical in Psychiatry (antidepressants), Cardiology (anticoagulants) and Oncology, moving practice away from 'trial and error' and reducing Adverse Drug Reactions.
Modern Medical Genetics extends beyond diagnosis into treatment: (1) Gene Therapy — viral vectors or CRISPR to correct defects; (2) Chaperone Therapy — stabilising misfolded proteins; (3) Small-Molecule Therapies — read-through of nonsense mutations or RNA-splicing modulation. These represent the vanguard of translational medicine.
A paradigm shift from reactive treatment to proactive risk mitigation. 'Previvors' carry a genetic predisposition but have not developed disease. Using Polygenic Risk Scores (PRS) with traditional clinical factors, we quantify susceptibility to complex conditions and create individualized surveillance and lifestyle protocols to prevent or delay onset.
Lattes CV · ORCID · ResearchGate · Contact
GuiDeCode is a static-first, offline-capable clinical toolset presented through a spatial (3D) interface — an exploration of post-AI operating-system design applied to clinical and genetics work. Educational decision support only; not a medical device.
ΙΧΘΥΣ