ABOUT US

Our Advisory Board

Check out our team of renowned experts on Genetic Diseases who guide the Scientific decisions in Casa Hunter.

Adriana Bortolai


Gratuated in Biological Sciences from the Mackenzie Presbyterian University Mackenzie (1992) with a Masters in Morphology from the Federal University of Sao Paulo - Sao Paulo Medical School (1998). Adriana currently is the biologist in charge of the Cytogenetics Unit in the Clinical Laboratory Service of the “Francisco Morato de Oliveira” Public Hospital in the Satte of São Paulo and works as a Preceptor in the Medical Genetics Specialization Course for FUNDAP Specialization Fellows. She works as a Collaborating Professor at the São Judas Tadeu University’s Non-degree Graduate Course in Molecular Biology applied to the field of Human, Animal and Plant Science, teaching Human Cytogenetics, and in counselling for the course’s Final Thesis. She is also a Professor at Faculdades Integradas TORRICELLI‘s undergraduate Biological Science, Biomedicine and Nutrition programs, teaching General, Human and Clinical Genetics and Cytogenetics. Prior experience in Genetics, with an emphasis on Human Cytogenetics.

Dra. Ana Maria Martins

Pediatrician, Teacher


Graduated in Medicine from the University of Taubaté (1979), specialized in Pediatrics from the Federal University of São Paulo (1981), in General and Community Pediatrics from the Federal University of São Paulo (1984), in Genetics and Inborn Errors of Metabolism by the University Federal University of São Paulo (1984), in Phenylketonuria Outpatient Treatment at Apae-SP by the Federal University of São Paulo (1984), in the Homeopathy Specialization Course at the University of Ribeirão Preto (1994), with a Master's Degree in Pediatrics and Sciences Applied to Pediatrics at the Federal University of São Paulo (1985), a PhD in Pediatrics and Sciences Applied to Pediatrics at the Federal University of São Paulo (1987), a postdoctoral degrees from the University of Pittsburgh (1989) and the University of California San Diego (1990), and medical residency at the Brazilian Society of Clinical Genetics (1993). She is currently an Associate Professor at the Federal University of São Paulo. Prior experience in Medicine, with an emphasis on Medical Clinic. Acts mainly on the following topics: Inborn Errors of Metabolism and Phenylketonuria.

Andrea de Cássia Rodolpho

Pediatric Dentist, Orthodontist


Graduated from Universidade Paulista UNIP. Specialized in Orthodontics and Facial Orthopedics from UNICSUL. Pediatric dentist with an emphasis on prevention. Invisalign Doctor - accredited by Invisalign. Member of the multidisciplinary team of the Casa Hunter NGO at the Hospital das Clínicas. Refresher course in pediatric dentistry - APCD Saúde. Neuro-occlusal rehabilitation through jaw functional orthopedics - APCD - Jardim Paulista. Laser habilitation in odontology - LELO - USP. Pediatric dentistry in early childhood - Fundecto - USP.

Dra. Carolina Sanchez Aranda

Pediatrician


Graduated in Medicine from the Pontifical Catholic University of São Paulo - PUC - SP - 2003, Immersion Course in Pompe Disease and Immunology (with an emphasis on the formation of neutralizing antibodies). Duke University - NC - USA. Under Dr. Priya Kishnani. Doctor’s Degree (in progress) in Pediatrics and Sciences Applied to Pediatrics from the Federal University of São Paulo - UNIFESP - EPM. Since 2014.Master’s in Pediatrics and Sciences Applied to Pediatrics by the Federal University of São Paulo - UNIFESP - EPM. 2012 - 2014.Capacitation in Metabolic Diseases from the Reference Center for Inborn Errors of Metabolism (CREIM) at the Federal University of São Paulo - UNIFESP - EPM. 2009. in Pediatrics at the Federal University of São Paulo - UNIFESP - EPM. Since 2009.Medical Pediatrician at the Reference Center for Inborn Errors of Metabolism (CREIM) at the Federal University of São Paulo - UNIFESP - EPM. Since 2010. Experience in Metabolic Diseases. Attention to lysosomal disease, organic acidemia and aminoacidopathies patients. Desensitization in patients with allergies to recombinant enzymes. Physician at the IGEIM (Institute of Genetics and Inborn Errors of Metabolism) Clinical Research Center. Participation in clinical studies as an under-researcher. Since 2011. Specialized in Pediatrics by the Brazilian Society of Pediatrics - SBP. Since 2007. Specialized in Allergies and Immunology by the Brazilian Society of Allergy and Immunology - ASBAI. Obtained in 2009. 2nd place National.International Grant - American Academy of Allergy, Asthma and Immunology - 2015.

Prof. Chong Ae Kim, PhD.

Pediatrician, Researcher, Head of USP Medical Unit


Graduated in Medicine from the University of Brasília (1978), with a Masters (1991) a PhD (1996) and Habilitation (2007) in the field of Medical Genetics from the Department of Pediatrics of the Medical School of the University of São Paulo. She has been Head of the Genetics Unit in the Children's Institute of the Hospital das Clínicas, which belongs to the Medical School of the University of São Paulo, since 1989. Her main research is done on Williams-Beuren syndrome, Noonan and Noonan-like syndrome, Mucopolysaccharidoses and Skeletal Dysplasias.

Prof. Claudia Berlim de Mello, PhD.

Neuropsychologist, Professor


Associate Professor in the Department of Psychobiology - UNIFESP. Post-Graduate Program on Education and Health in Childhood and Adolescence - UNIFESP. Nucleus of Neuropsychological Child Care - NANI/CPN. Graduated in Psychology from the Federal University of Rio de Janeiro (1985), with a Master’s in Psychology (Human Development in the Social and Cultural Context) from the University of Brasilia (1993) and a Ph.D. in Psychology (Neurosciences and Behavior) from the University of São Paulo (2003). Associate Professor in the Department of Psychobiology, EPM/UNIFESP. Professor in the Postgraduate Program in Education and Health in Childhood and Adolescence, UNIFESP Guarulhos Campus. Main research: Developmental Neuropsychology, Neurodevelopmental Disorders, Behavioral Genetics, Neuropsychological Assessment, Development and neuropsychological tests adaptation.

Dra. Gabriela Nunes Leal

Pediatrician


Graduated in Medicine from the University of São Paulo. Residency in Pediatrics at the Children's Institute of Hospital das Clínicas, FMUSP. Residency in Pediatric Cardiology at the Heart Institute of Hospital das Clínicas, FMUSP. Internship in Pediatric Echocardiography at the Heart Institute of Hospital das Clínicas, FMUSP. Internship in Fetal Echocardiography at the Obstetrics Clinic of the Hospital das Clínicas, FMUSP. Certificate of performance in Pediatric Cardiology by SBC. Master of Science from the Department of Pediatrics, FMUSP. PhD in Medicine from the Department of Pediatrics, FMUSP. Medical Coordinator of the Echocardiography Service of the Children's Institute of the HCFMUSP. Medical pediatric and fetal echocardiographer in the following hospitals: São Luiz (Itaim Unit), Hospital do Coração and Hospital Sírio Libanês, in São Paulo.

Prof. Guilherme Baldo

Professor


Graduated in Pharmacy from the Federal University of Rio Grande do Sul (2005) with an emphasis on Industrial Pharmacy (UFRGS, 2010), a master’s degree (2008) and PhD (2012) in Biological Sciences: Biochemistry from the same university, and PhD studies at the Washington University in Saint Louis. He is currently an Associate Professor at the Department of Physiology of the UFRGS. Guilherme acts in developing new therapies (gene therapy, enzyme replacement, small molecules) for deposition lysosomal diseases, especially mucopolysaccharidoses.

Dr. João Gabriel Lima Daher

Physician, Pediatrician


Graduated in Medicine from the Medical School of Teresópolis (UNIFESO) - State of Rio de Janeiro. Graduate studies in Medical Genetics at the Federal University of Rio de Janeiro (2010-2014), specialized in Pediatric Emergencies at the Hospital Israelita Albert Einstein, São Paulo (2013). He was in charge of the Facomatoses sector of the Santa Casa da Misericórdia Hospital in Rio de Janeiro (2010-2013) and the Neurofibromatosis Outpatient Clinic of the Martagão Gesteira Child Care and Pediatrics Institute of the Federal University of Rio de Janeiro (2010-2014). He collaborated in the development of the National Policy for the Care of Patients with Rare Diseases by the Ministry of Health (2012-2014). He is currently in charge of the Rare Diseases sector of the Beneficência Portuguesa Hospital of Rio de Janeiro and the Hélio Montezano Municipal Hospital located in the Northwestern Region of the State of Rio de Janeiro. He was Director of the National Center for Neurofibromatosis (CNNF). He is active in the field of medical genetics and is involved in the development of public policies for patients with rare diseases. Published work in scientific journals: Slaibi EB, Daher JGL, Fonseca GGG, Daher CM, Geller M, Ribeiro MG. Clinical and radiological repercussions of plexiform neurofibromas in the pelvic region. Radiol Bras. 2014 Set/Out;47(5):326–328. Lopes MRA, Vilar AN, Pockstaller MP, Daher JG, Azulay DR. Bilateral Segmental Neurofibromatosis. International Journal of Dermatology. Article first published online: 20 JUN 2013.DOI: 10.1111/j.1365-4632.2012.05735.x Gama CRB, Passos MDL, Varella R, Lasmar R, Gama GF, Oliveira L, Daher JGL, Passos MRL, Geller M. Clinical evaluation of uncaria tomentosa in the treatment and control of lesions caused by infection with the herpes simplex virus. DST- J bras. Sexually transmitted diseases 2010; 22(4): 215-221. Approved on Feb-20-2011. Nunes CP, Oliveira PC, Oliveira JM, Moreira TSV, Oliveira L, Guimarães OR, Kirzner M, Rzetelna H, Daher JGL, Geller M. Persistent cough: quality of life and clinical evaluation of the impact of pulmonary antiseptic therapy. Rev Bras Clin Med 2010; 8 (4): 299-305. ISSN: 0100-3232.

Dr . José Francisco da Silva Franco

Pediatrician, professor, geneticist


Physician, with a Masters in Pediatrics from the Genetics Unit of the Children’s Institute at the USP Medical School - ICr FMUSP, professor at the Pontifical Catholic University of Campinas (PUC-Campinas), creator of the Outpatient Clinic of Medical Genetics at the Cândido Fontoura Hospital - HICF, residency in Clinical Genetics and Pediatrics in 2009 at UNIFESP, specialized in Clinical Genetics - SBGM in 2010. Specialized in Pharmacology at the Federal University of Lavras-MG in 2004, he is a researcher in a study for Mucopolysaccharidosis at the Hospital Infantil Sabará, where he is a Geneticist at the Center of Excellence.

Karen Hadler Viana

Physical therapist


Graduated in Physical Therapy from the Centro Universitário São Camilo, completed in July/2006. Graduate studies in Dhermato-Functional Physical Therapy at CBF (Brazilian Scientific and Cultural Center from Physiotherapy), concluded in Feb./2008. Extracurricular work during college at the IBCC with motor and respiratory rehabilitation in terminal cancer patients. Extracurricular Internship at the AACD with motor rehabilitation, hydrotherapy in patients with cerebral palsy and Down syndrome. Physiotherapist for the multidisciplinary team of the Day Hunter patients project.

Larissa Salustiano

Clinical psychologist


Master's degree from the Medical School of USP. Psychologist at the Child and Youth Clinic. Master’s in Sciences from the Faculty of Medicine of USP. Specialized in Neuropsychology. Graduate studies in Institutional and Clinical Psychopedagogy. Graduate studies in Inclusive and Special Education. Graduate studies in Public Health Management. Graduate studies in the Family Health Program (PSF). Collaborator at the Paulista Center for Neuropsychology (CPN) - Interdisciplinary Neuropsychological Evaluation Center (NANI). Trainer at the Compasso Project in Socioemotional Education.

Dra. Laura Xavier Kellem

Physician, translator


Bilingual Physician, Portuguese - English Interpreter and Translator in several hospital networks in California. Ecosonographer at the Kaiser Permanente hospital network, Bachelor of Echocardiography from the City College of San Francisco. Graduated from the Fluminense Federal University Medical School, specialized in Dermatology from the FTESM Institute of Dermatology Prof. Azulay Santa Casa in RJ. She received her Master’s in Dermatology from UFF and an Intern in Clinical Research at the San Francisco Veterans’ Affairs Medical Center, Heart and Soul Study in San Francisco and the Vulvar Pathology Outpatient Clinic, HUCFF UFRJ.

Dra. Lilian Maria José Albano

Pediatrician


Graduated in Medicine from PUC / SP. Bachelor of Law from UNIB. Master’s in Pediatrics and Sciences Applied to Pediatrics at the Federal University of São Paulo. PhD in Medicine (Pediatrics) from USP. Refresher course in lysosomal diseases at Mainz, Johannes Guttenberg Universität München. Specialized in Public Health, homeopathy, acupuncture and Ayurvedic Medicine. Specialized in Pediatrics. Neonatology and Clinical Genetics. Geneticist at the Genetics Unit of the Children's Institute of the USP Hospital das Clínicas. Physician at the PMSP. Short Teaching License Program in Musical Education and Qualification for Piano Teaching by IMSP. Author of scientific articles and books in the field of Medicine.

Luciana Mello Di Benedetto

Psychologist


Graduated in Psychology from the Mackenzie Presbyterian University. Specialized in Neuropsychology from the Neuropsychological Diagnostic Center (CDN-UNIFESP). She is currently a master’s candidate in the Department of Psychobiology at the Federal University of São Paulo (UNIFESP) and is a collaborator/researcher at the Genetics Outpatient Clinic of the Child Neuropsychological Interdisciplinary Care Center at the Paulista Neuropsychology Center (NANI-CPN). Prior experience in clinical, institutional and research field. Her work is focused on neuropsychological evaluation, intervention in patients with intellectual disability, genetic syndromes and neurodevelopmental disorders.

Dr. Nei Botter Montenegro

Orthopedist


Children's Orthopedist at the Pediatric Specialties Clinic of the Hospital Israelita Alberto Einstein. Head of the Pediatric Orthopedics Group of the Hospital das Clínicas, USP Medical School. Master and PhD in Orthopedics from the USP Medical School. Member of the Faculty of the Institute of Orthopedics and Traumatology at USP.

Dr. Raphael Fernando Boiati

Professor


Graduated in Pharmacy and Biochemistry from Universidade Nove de Julho (2006). Specialized in Clinical Pharmacology by the Faculdades Oswaldo Cruz (2009). Specialized in Clinical Pharmacy by SBRAFH (Brazilian Society of Hospital Pharmacy). Master’s in Pulmonary Rehabilitation Science - Pharmacology from Universidade Nove de Julho (2010). He is currently a Professor at the Centro Universitário São Camilo and in Specialization Courses of the Racine Institute and the Institute of Science, Technology and Quality (ICTQ). Served as a Member of the Ethics Committee in the Regional Pharmacy Council of the State of São Paulo (CRFSP) for 5 years.

Regina Bernardes Ferreira El Khoury

Speech Therapist


Speech therapy degree from the Pontifical University of São Paulo, currently working on the "Day Hunter" project, developed in the Children’s Institute’s Genetics Service at the Hospital das Clínicas de São Paulo, clinical care at APAE - São Paulo, in the early stimulation sector, from 1985 to 1987, ambulatory care at the Brazilian Red Cross Hospital, former Hospital for Defects of the Face, from 1987 to 2013, supervision of the “Speech-Language Pathology Improvement in the Treatment of Labiopalatine Fissures, Associated Syndromes and Other Correlated Pathologies” course that is taught at the Hospital for Defects of Face, currently the Brazilian Red Cross Hospital, from 1990 to 2005.

Dr. Roberto Giugliani

Professor


Full Professor in the Department of Genetics of the Federal University of Rio Grande do Sul, Researcher I A of the CNPq. Coordinator of the National Institute of Science and Technology of Medical Population Genetics (INAGEMP). Bachelor of Medicine from the Federal University of Rio Grande do Sul. Founder and head of the Medical Genetics Service at the Hospital de Clínicas in Porto Alegre. His international presence is due to his research on inborn errors of the metabolism, focusing on biochemical, genetic and clinical aspects of these abnormalities, particularly lysosomal diseases.

Dr. Rodrigo Abensur Athanazio

Physician, Medical Manager, Consultant


Physician trained at the Federal University of Bahia and specialized in medical practice by the Federal University of São Paulo and in Pneumology and Intensive Care at the University of São Paulo. Currently works as an assistant physician in the Pulmonology department of the Heart Institute (InCor) - USP Hospital das Clínicas and Hospital Emílio Ribas with extensive experience in the assistance area, as well as academic research. He is also a medical manager and clinical research consultant at the CRO (Clinical Research Organization) Eurotrials. His research is done in the field of obstructive pulmonary diseases, including asthma, chronic obstructive pulmonary disease (COPD), bronchiectasis and cystic fibrosis. Director of the São Paulo State Society of Pneumology and Tisiology (SPPT), editor in chief of the official SPPT (São Paulo Satte Pneumology) journal, coordinator of the cystic fibrosis commission of the Brazilian Society for Pneumology and Tisiology (SBPT) and national coordinator of the first Brazilian directive of cystic fibrosis.

Dra. Stephanie Puggi Pegler

Physician


Graduated in Medicine from Universidade Nove de Julho. Residency in Medical Genetics at the University of São Paulo (HCFMUSP). Internship at the Gene Therapy Laboratory of the Federal University of São Paulo (UNIFESP). Specialized in Medical Genetics by the Brazilian Society of Medical Genetics (SBGM). Preceptor in Medical Genetics for HCFMUSP. Master’s candidate in the field of Medical Genetics.