Physician-immunologist · MD, PhD

João Bosco
Oliveira Filho.

Clinical immunology and genomic medicine

Physician and researcher focused on immune disorders and rare diseases. Trained at the NIH, with experience in genetic diagnosis, scientific research and clinical care.

In-person appointments in Recife and telemedicine consultations.

Research & publications

CRM-PE 12563 · RQE 8733 · CRM-SP 123555

Portrait of Dr. João Bosco Oliveira Filho
Recife, PE · BrazilClinical care
CEO and founder of NeoGenomicaFounder of Genomika DiagnósticosTraining and research at the NIH

Areas of expertise

Areas of expertise.

Appointments and scheduling.

Clinical Care

Appointments in clinical immunology, rare diseases and inborn errors of immunity, available in person at the Center for Genomic Medicine in Immunology and by telemedicine.

Genomic and Precision Medicine

Clinical selection and interpretation of gene panels, exome and genome sequencing, integrating medical history, laboratory data and molecular findings.

Science and Entrepreneurship

Research, innovation, and the creation of companies and projects that expand access to genomics and bring scientific evidence closer to healthcare practice.

Biography

From research to care.

He earned his medical degree from the University of Pernambuco (UPE) and completed his Internal Medicine residency at the Federal University of Pernambuco (UFPE). He undertook a postdoctoral fellowship in clinical and laboratory immunology at the National Institutes of Health (NIH, USA) and earned doctorates in Pathology from the University of São Paulo (USP) and in Experimental Immunology from the University of Amsterdam (the Netherlands).

At the NIH, he led the Human Disorders of Lymphocyte Homeostasis Unit and served as Assistant Chief of the Flow Cytometry and Genetics Service. In 2013, he founded Genomika Diagnósticos, which he led until its integration into Hospital Israelita Albert Einstein. At Einstein, he directed molecular genetics, precision medicine and the Brazilian Rare Genomes Project.

Full biography

Founder and coordinator of the Brazilian Rare Genomes Project — a nationwide initiative involving 10,305 participants across 21 centers — he also served as CEO of Genesis Genomics. He is currently CEO and founder of NeoGenomica, CEO and co-founder of Co-Human Genomics, and coordinator of the Immunobiologics Center at Hospital Memorial Star.

His work connects immunology, monogenic disease discovery and genomics at scale. He has authored or co-authored more than 80 scientific papers, including publications in PNAS, Blood, Nature Immunology and Science.

Education and career.

Training in Brazil, the United States and the Netherlands; immunology research and leadership in genomic medicine.

Academic training

  1. Medical Degree

    University of Pernambuco (UPE)

    Completion of medical school and the beginning of his clinical career.

  2. Internal Medicine Residency

    Federal University of Pernambuco (UFPE)

    Specialist training in Internal Medicine.

  3. Clinical Laboratory Immunology Fellowship

    National Institutes of Health (NIH), United States

    Research in clinical laboratory immunology, immunogenetics and apoptosis.

  4. PhD in Pathology

    University of São Paulo (USP)

    Doctoral thesis on an NRAS mutation and human autoimmune lymphoproliferative syndrome.

    View source
  5. PhD in Experimental Immunology

    University of Amsterdam (UvA), the Netherlands

    Doctoral thesis on human immunology through the study of primary immunodeficiencies.

    View source

Professional career

  1. Postdoctoral Fellow

    National Institutes of Health (NIH)

    Fellowship in clinical and laboratory immunology, with full-time research in immunogenetics and apoptosis.

    View source
  2. Unit Head and Assistant Service Chief

    National Institutes of Health (NIH)

    Head of the Human Disorders of Lymphocyte Homeostasis Unit and Assistant Chief of the Flow Cytometry and Genetics Service in the Department of Laboratory Medicine.

    View source
  3. CEO and Founder

    Genomika Diagnósticos

    Founded and led one of Brazil's pioneering high-complexity genetics laboratories.

    View source
  4. Genomika acquisition by Einstein

    Hospital Israelita Albert Einstein

    Completion of the controlling-interest acquisition and integration of Genomika operations into Sociedade Israelita Brasileira Albert Einstein.

    View source
  5. Medical Manager of Genomics

    Hospital Israelita Albert Einstein

    Led the Molecular Genetics Laboratory, Precision Medicine Program and Brazilian Rare Genomes Project.

    View source
  6. CEO

    Genesis Genomics

    Executive leadership of the genomics joint venture created by Grupo Fleury and Hospital Israelita Albert Einstein.

    View source
  7. CEO and Founder

    NeoGenomica

    Executive and scientific leadership of a laboratory dedicated to precision medicine and advanced genetic sequencing.

    View source
  8. Coordinator, Immunobiologics Center

    Hospital Memorial Star

    Coordinates a center specializing in immunobiologic therapies at Hospital Memorial Star in Recife.

    View source
  9. CEO and Co-founder

    Co-Human Genomics

    Created a platform integrating clinical genomics, artificial intelligence and continuous health monitoring.

    View source

Selected publications

  1. NRAS mutation causes a human autoimmune lymphoproliferative syndrome

    Described an activating germline NRAS mutation as a cause of human autoimmune lymphoproliferative syndrome; first author.

    Open publication
  2. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

    Consensus diagnostic criteria and classification from the NIH international workshop; first author.

    Open publication
  3. Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

    Expanded the spectrum of RAS-associated autoimmune and lymphoproliferative disorders; senior author.

    Open publication
  4. Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

    Identified PKCδ loss of function as a cause of B-cell lymphoproliferation and autoimmunity; senior author.

    Open publication
  5. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

    Activating germline PIK3CD mutations associated with T-cell senescence and immunodeficiency.

    Open publication
  6. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

    Demonstrated that CTLA-4 haploinsufficiency causes immune dysregulation in humans.

    Open publication
  7. The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

    Validation of whole-genome sequencing for rare disease diagnosis; corresponding author.

    Open publication
  8. Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project

    National landmark involving 10,305 participants at 21 centers, 9,448 reports and an overall diagnostic yield of 35.6%.

    Open publication

Scientific output

Projects, media and publications.

A selection from his academic career, including scientific papers, research projects and interviews on genomics, immunology and precision medicine.

88 scientific papers4 featured projects29 interviews and news items

Projects

Brazilian Rare Genomes Project

Whole-genome sequencing of thousands of patients with rare diseases in public healthcare services, aiming to accelerate diagnosis and improve clinical care in Brazil.

View project

Diagnosis, genetics and pathogenesis of primary immunodeficiencies

NIH projects on the genetics, diagnosis and basic science of autoimmune lymphoproliferative syndrome and other primary immunodeficiencies.

Applications of Next-Generation Sequencing for the study of immunodeficiencies

Application of next-generation sequencing to the molecular study of immunodeficiencies.

Genetics of Autoinflammatory Syndromes

Multicenter project on the prevalence and genetics of autoinflammatory syndromes in the pediatric population.

Interviews and media

Maior estudo genômico da América Latina reforça impacto da medicina de precisão no SUS

Banco do Nordeste financia pesquisa que pode antecipar diagnósticos e prevenir câncer

MGI Tech e NeoGenômica ampliam o acesso à genômica de alto rendimento no Brasil

Fundação do Câncer conduz painel sobre avanços tecnológicos no diagnóstico oncológico na FISweek 2025

A genética como ferramenta de transformação na oncologia

NeoGenômica implementa o teste genético mais poderoso do mundo com foco em precisão e agilidade nos diagnósticos

View all interviews (29)

Em São Paulo, o imunologista João Bosco apresenta nova iniciativa em genética e reforça os avanços da área no Brasil

Recife no debate nacional sobre doenças raras

Dia Internacional da Síndrome de Down terá como tema conectar

O que é a fibrose cística?

Oncogenética: uma inovação de importância vital na patologia clínica

Como testes genéticos estão revolucionando os tratamentos

Como o Brasil investiga doenças raras presentes no DNA através do SUS

Conferência expõe aplicações da genômica para diagnósticos e medidas preventivas em diversas áreas da medicina

Como a medicina personalizada está sendo impulsionada com tecnologias avançadas

Projeto já ajudou duas mil crianças

Subnotificadas, doenças raras de origem genética podem confundir pais de primeira viagem

Comissão Especial Interpartidária de Acompanhamento ao Coronavírus realiza reunião

Lei que amplia acesso a tratamento contra doenças raras está parada na Câmara

Einstein vai mapear genoma de 3.500 pacientes com doenças raras

Projeto sequenciará genoma de 3.500 pessoas com doenças raras

Albert Einstein leva sequenciamento genético a pacientes do SUS

Banco genético vai ajudar o SUS a tratar doenças raras

Exame genético auxilia no diagnóstico precoce do câncer de próstata

Exame genético auxilia na descoberta de doenças não identificadas

Hospital português ganha laboratório de genética

Exame de microarray auxilia no diagnóstico de doenças genéticas

Biópsia líquida e mapa genético adiantam detecção do câncer

Einstein inaugura centro de medicina personalizada

Complete list of scientific papers88 publications

Clinical care

Appointments and scheduling.

In-person care in Recife and telemedicine consultations, with access to the Patient Portal for scheduling and follow-up.

Schedule via WhatsApp

Center for Genomic Medicine in Immunology

Clinical appointments at NeoGenomica's headquarters in the Graham Bell business center.

Rua Frei Matias Teves, 285 · Ilha do Leite
Recife/PE · CEP 50070-465
Open in Google Maps

Hospital Memorial Star

Clinical office at Hospital Memorial Star, where Dr. João Bosco also coordinates the Immunobiologics Center.

Rua Paissandu, 300 · Boa Vista
Recife/PE
Open in Google Maps

In-person and telemedicine appointments

Schedule through the Patient Portal or WhatsApp. The portal also lets you organize documents and follow your care.