Medical Geneticist · PhD · CRM-CE 6067 · RQE 1424
Answers for those who can no longer wait.
If you are here, you have probably already been to many doctors, had many tests, and still have more questions than answers. I have been working in medical genetics for over 35 years to help families understand what is happening with their child and what to do next.
Profa. Dra. Erlane Marques Ribeiro
Medical Genetics · Fortaleza, CE
Coord. Rare Diseases Reference Service of Ceará
About Profa. Dra. Erlane
My name is Erlane Marques Ribeiro. I am a medical geneticist and professor of Medical Genetics for over 35 years. Throughout this time, I have accompanied many families who arrived at my office with the same mix of exhaustion and hope that you probably feel right now. I know that reaching a geneticist often means having traveled a long path — pediatricians, neurologists, tests that did not add up, diagnoses that did not explain everything. My work begins exactly where other specialists were left with doubt.
I graduated from Universidade Federal do Ceará, with a master's degree from USP and a doctorate from UFRN. I serve as a professor of Medical Genetics at Unichristus, as coordinator of the Rare Diseases Reference Service of Ceará at Hospital Infantil Albert Sabin, and as a geneticist at APAE Fortaleza. For over a decade, I coordinated the "Vivendo com Três 21" project, which accompanied families of children with Down syndrome through every stage of development. But what drives me is not my curriculum — it is knowing that an accurate diagnosis can transform the way a family understands and cares for their child. It can change treatment, access to rights, and quality of life.
35+
years of experience
100+
published articles
HIAS
Coord. Rare Diseases
2022
Humanized Care Award
Education and institutional affiliations
How I can help your family
Every child is different. Every family arrives with a story. Below are the most common situations — perhaps you will recognize yours.
My child has developmental delay
Did your child take longer to sit, walk, talk, or learn? This delay may have an identifiable genetic cause. Finding out why changes what comes next: targeted treatment and a clearer path forward.
My baby was born with different features
Physical features that stand out in the face, hands, or body, or problems detected at birth. Genetic evaluation helps identify whether there is a syndrome and what it means for your child's health.
Rare disease diagnosis
Hearing the name of a syndrome you have never heard of is frightening. What is it? Is there treatment? As coordinator of the Rare Diseases Reference Service of Ceará, my job is to translate the diagnosis into plain language and connect your family to the right resources.
Suspected inborn error of metabolism
Unexplained crises, developmental regression, or abnormal newborn screening results may indicate hereditary metabolic diseases. When identified early, many can benefit from specific treatment.
Treatment-resistant epilepsy
When seizures do not respond to common medications, the cause is often genetic. Identifying it can help guide better treatment.
Planning before a new pregnancy
If you have already had a child with a genetic condition or there is a family history, genetic counseling answers the questions you are afraid to ask: what is the risk? What can I know beforehand?
Interpretation of genetic tests
Received an exome, genetic panel, or karyotype result and do not know what to do with the report? I analyze the result within your child's clinical context and explain what it means in practice.
Ongoing follow-up care
The diagnosis is not the end of the story. Children with genetic syndromes need follow-up because each stage brings new challenges. I offer return appointments so that you do not feel alone.
What to expect from the appointment
Transparency reduces anxiety. See how each stage of care works so you can arrive prepared and at ease.
Before the Appointment
Bring all tests, reports, and medical records your child has had. The more information, the better. If possible, write down the questions you would like to ask.
During the Appointment
The first appointment lasts on average 60 to 90 minutes. I need time to listen to your story, examine your child, and explain each step of the clinical reasoning.
After the Appointment
You will receive a detailed report with the diagnostic impression, requested tests, and guidance. If necessary, I refer to other trusted specialists in my network.
Follow-up
The diagnosis is not the end — it is the beginning. I offer return appointments to track your child's progress and adjust the care plan as each stage unfolds.
Private Practice
Appointments are private, with receipt issued for reimbursement from your health insurance plan.
Education and Career
A career built on solid academic training and commitment to clinical practice.
Medical Degree
Universidade Federal do Ceará (UFC)
Pediatrics Residency
Universidade de São Paulo (USP)
Specialization in Clinical Genetics
Universidade de São Paulo (USP)
Master's in Medicine (Pediatrics)
Universidade de São Paulo (USP)
Doctorate in Health Sciences
Universidade Federal do Rio Grande do Norte (UFRN)
President of SBGM North-Northeast
Sociedade Brasileira de Genética Médica e Genômica
Coord. Rare Diseases Reference Service
Hospital Infantil Albert Sabin (HIAS)
Professor of Medical Genetics
Faculdade de Medicina Unichristus
Researcher — Rare Genomes Project
Rede Nacional de Sequenciamento Genômico
Teaching and Research
As a professor of Medical Genetics at Unichristus, I contribute to the training of future doctors and healthcare professionals. My research work has resulted in over 100 scientific publications, covering topics such as genetic syndromes, inborn errors of metabolism, and the epidemiology of rare diseases in northeastern Brazil.
I believe that science communication is essential so that knowledge reaches those who need it most. That is why I regularly participate in lectures, livestreams, and events aimed at both professionals and families.
View full Lattes CVLectures and Livestreams
Accessible scientific communication for the public
100+ Publications
Articles in national and international journals
Mentorship
Training of new professionals and researchers
Vivendo com Três 21
Outreach project with families of children with Down syndrome
Scientific Publications
Over three decades of research translated into publications that contribute to the diagnosis and treatment of children with genetic diseases in Brazil.
100+
articles published in journals
30+
international journals
2,500+
scientific citations
15+
awards and honors
Research Areas
Click on a topic to see featured publications.
Awards and Honors
Trabalho Destaque — Sindrome de Patau em Mosaico
1º Congresso Cearense de Doenças Raras
Homenagem da Assembleia Legislativa do Ceará
Dia Mundial das Doenças Raras, ALECE-CE
1º Lugar — Tema Livre
VIII Congresso Norte-Nordeste de Genética Médica
Prêmio de Atendimento Humanizado
Hospital Infantil Albert Sabin — HIAS
Premiação em Casos Clínicos sem Diagnóstico
II Congresso Brasileiro de Neurogenética
Frequently Asked Questions
The questions I hear most from families who come to my office.
Let's talk
The first appointment is long on purpose. I want to hear everything — from when you first started worrying to the tests that have already been done. The first step is simple: send me a message.
Address
Av. Santos Dumont, 6740, sala 902
Cocó, Fortaleza - CE | CEP 60192-022
(85) 99115-6556
Scheduling and information
Office Hours
Monday to Friday
Check availability via WhatsApp