Our specialists

Rare Disease Experts: The Team Behind Saventic Care

Saventic Care works alongside leading rare disease experts, each specializing in the diagnosis and treatment of rare conditions. By fostering clinical collaboration across a wide range of specialties, we ensure each patient receives individualized care.
The medical data provided is carefully analyzed by specialists in fields like genetics, hematology, immunology, and more, ensuring a thorough rare disease consultation.
This medical partnership, combined with AI-powered diagnostic support, enables an accurate, fast, and tailored diagnosis for every patient.

MD, PhD of Jagiellonian University

Stanisława Bazan-Socha

MD, PhD of Jagiellonian University

Stanisława Bazan-Socha

Specialist in Internal Medicine, Allergology, and Clinical Immunology

Education

  • Graduated with a medical degree from the Faculty of Medicine, Jagiellonian University Medical College (1996).

  • Completed a PhD program in Molecular Biology at the Faculty of Medicine, Jagiellonian University Medical College and earned a PhD in Medical Sciences (2001).

  • Achieved habilitation (postdoctoral degree) in Medical Sciences (2017).

Professional Experience

  • Since 1996, has been working at the 2nd Department of Internal Medicine, Jagiellonian University Medical College.

  • Between 1992–1994, served as a research fellow at the Department of Nephrology, University of Heidelberg, Germany.

  • Currently serves as:

    • Head of the Department of Allergy, Autoimmunity and Hypercoagulability

    • Head of the Allergic Diseases Outpatient Clinic

    • Senior Assistant in the Immunologic Diseases and Coagulation Disorders Clinic

Main Areas of Clinical and Scientific Interest

  • Pathophysiology of asthma, allergic diseases, and autoimmune disorders

  • Mechanisms of thromboembolic complications, arterial atherosclerosis, Fabry disease

  • Mathematical modeling for predicting behavior patterns in medicine

PhD Stanisława Bazan-Socha is a laureate of numerous prestigious national and international awards. Among her distinctions is the First Prize in the Dr. Erwin Margulies Competition for research in hypercoagulability. Her intensive scientific and professional activity has resulted in over 100 publications, as both author and co-author. Many of these works stem from her involvement in scientific and research projects. Her academic development has also been shaped by internships and fellowships in research centers in Germany and the United States.

MD, PhD

Janina Müller-Deile, MHBA

MD, PhD

Janina Müller-Deile, MHBA

Specialist in Nephrology and Internal Medicine

Education

  • Since 2021: ERKNet Postgraduate Curriculum (European Reference Network for Rare Kidney Diseases)

  • 2020–2022: Master of Health Business Administration (MHBA), Friedrich-Alexander University Erlangen-Nürnberg (FAU)

  • 2012: Medical license (Approbation)

  • 2005–2012: Medical studies at Hannover Medical School

Professional Experience

  • W2 Professor of Rare Kidney Diseases at Friedrich-Alexander University Erlangen-Nürnberg

  • Senior Consultant (Oberärztin) and Specialist in Internal Medicine and Nephrology with an additional qualification in Emergency Medicine

  • Head of a research group at the University Hospital Erlangen

Main Clinical and Research Interests

  • Research on rare glomerular diseases using cell culture models, transgenic zebrafish models, and podocyte-specific knockout models

  • Focus on multidimensional aspects of kidney diseases through a patient-centered approach

  • Investigation of cell–cell communication via microRNAs (miRs), exosomes, autophagy, and circulating factors

  • Medical care for patients with glomerular diseases, chronic kidney failure, and kidney transplantation

PhD Janina Müller-Deile is a renowned nephrologist and an expert in rare kidney diseases. Her distinguished career is reflected in her position as W2 Professor of Rare Kidney Diseases at Friedrich-Alexander University Erlangen-Nürnberg, as well as her role as Senior Consultant in the Department of Nephrology. She also leads a nephrology research group at the University Hospital Erlangen. Her academic path includes significant milestones, such as the ERKNet Postgraduate Curriculum in rare kidney diseases and the MHBA degree from FAU Erlangen-Nürnberg. She earned her doctoral degree summa cum laude in Nephrology at Hannover Medical School and completed her habilitation in 2019. Prof. Dr. Janina Müller-Deile is not only a highly respected expert in clinical practice, but also an outstanding researcher and a dedicated member of the academic community.

MD, PhD

Eli Mansur

MD, PhD

Eli Mansur

Dr. Eli Mansur is a specialist in hereditary angioedema, allergies, and immunology. He graduated in Medicine from the Federal University of Uberlândia (UFU), and in Clinical Immunology and Allergy from the University of Campinas (UNICAMP), where he also earned his PhD in Medical Pathophysiology.

He is the coordinator of the Medical Residency Program in Clinical Immunology and Allergy at UNICAMP and also leads the Urticaria/Angioedema Center of Reference & Excellence (UCARE/ACARE) at the same institution.

In addition, he serves as the communications and media coordinator for the Brazilian Association of Allergy and Immunology (ASBAI), the Latin American Society for Immunodeficiencies (LASID), and the Brazilian Study Group on Hereditary Angioedema (GEBAREH).

He is also a founding member of GEBAREH, a member of the Scientific Department of Urticaria at ASBAI, and a member of the Hereditary Angioedema Committee of the Latin American Society of Allergy, Asthma, and Immunology.

CRM 98613 SP | RQE 21547

MD

Marek Dudziński

MD

Marek Dudziński

Specialist in internal Medicine and Hematology

Education

  • Graduated from the Faculty of Medicine at the Jagiellonian University in 1995

  • Opened his doctoral thesis in 2014 at the Faculty of Postgraduate Medical Education, Wrocław Medical University

Professional Experience

  • Over a decade of experience in the diagnosis and treatment of a wide range of hematologic disorders

  • Participated in numerous phase I, II, and III clinical trials as both investigator and principal investigator

  • Since 2020, Assistant Professor at the Faculty of Medicine, University of Rzeszów

Main Clinical and Research Interests

  • Biology and treatment of chronic myeloproliferative neoplasms

  • Biology and treatment of chronic lymphocytic leukemia and other indolent lymphomas

  • Use of advanced machine learning algorithms in medicine

Dr. Marek Dudziński is the author and co-author of over 20 scientific publications in both Polish and international journals. He is a founding member of the Next Generation Hematology Association and the Polish Myeloma Consortium. He has also presented his work at scientific conferences in Poland and abroad. Patients particularly value his ability to build strong doctor–patient relationships and to communicate complex information in a clear and understandable way. Privately, he is a music enthusiast, a fan of active leisure, and a passionate traveler.

MD, PhD

Jens Greve

MD, PhD

Jens Greve

Specialist in Otolaryngology, Head and Neck Surgery

Education

  • Medical license obtained in 2005

  • Doctorate in Medicine (Dr. med.) in 2005

  • Completed habilitation in 2016

    • Habilitation thesis: “Bradykinin-induced angioedema as a cause of rare ENT emergencies”

  • Appointed Associate Professor in 2019

Professional Experience

  • 2005–2010: ENT training at the University Hospitals in Düsseldorf and Essen

  • Since 2010: Board-certified Specialist in Otolaryngology

  • 2012–2013: Senior Physician at the ENT University Clinic in Essen

  • Since 2013: Senior Physician at the ENT University Clinic in Ulm

Main Clinical and Research Interests

  • Hereditary and drug-induced angioedema

  • Oncologic and reconstructive head and neck surgery

  • Endocrine surgery (thyroid and parathyroid glands)

  • Surgical treatment of tracheal and laryngeal stenosis

MD, PhD Jens Greve is a recognized expert in the field of otolaryngology. Since the beginning of his career, he has been involved in the diagnosis and treatment of various forms of angioedema and has made a name for himself through numerous original publications. As a respected reviewer for leading scientific journals and an active member of several professional societies, he has made a significant contribution to medical research. Since 2013, Prof. Greve has been a senior physician at the Department of Otolaryngology, Head and Neck Surgery at University Hospital Ulm, where he leads the Angioedema Research Group. This group focuses on the research and treatment of angioedema, particularly in the facial and cervical regions.

MD, PhD

Michał Nowicki

MD, PhD

Michał Nowicki

Specialist in Internal Medicine, Nephrology, Hypertension, and Clinical Transplantology

Education

  • Graduated from the Faculty of Medicine in Katowice, Silesian Medical University (1988)

  • PhD in Medical Sciences – 1992

  • Habilitation (DSc) – 1997

  • Full Professor of Medical Sciences – 2002

Professional Experience

  • 1988–2000: Worked at the Department of Nephrology, Endocrinology, and Metabolic Diseases at the Silesian Medical Academy (now Silesian Medical University)

  • 1992–1994: Research fellow at the Department of Nephrology, University of Heidelberg, Germany

  • 2000–2007: Head of the Department of Nephrology and Dialysis Therapy at the Institute of the Polish Mother’s Memorial Hospital in Łódź

  • Since 2003: Head of the Department of Nephrology, Hypertension, and Transplantology at the Medical University of Łódź

Main Clinical and Scientific Interests

  • Pathophysiology and metabolic disorders in kidney failure and primary hypertension

  • Renal anemia, mineral and bone disorders in kidney diseases

  • Physical rehabilitation in dialysis patients

  • Impact of air pollution and climate change on human health

  • Rare and ultra-rare diseases affecting the kidneys

MD, PhD Michał Nowicki is the author of over 250 peer-reviewed scientific articles and more than 80 academic textbook chapters. He has chaired the development of national guidelines and expert consensus statements on metabolic disorders in kidney diseases and the diagnosis and management of ultra-rare conditions. He is the founder of the Polish Fabry Disease Collaborative Group, which develops and publishes recommendations for the diagnosis and treatment of Fabry disease. PhD Nowicki is a passionate advocate of a healthy lifestyle — he is a vegan, a dedicated cyclist, and an enthusiastic long-distance runner.

MD

Patryk Lipiński

MD

Patryk Lipiński

Specialist in Pediatrics

Education

  • Graduate of the First Faculty of Medicine, Medical University of Warsaw – received his medical degree in 2016

  • 2019 – Awarded the title of Doctor of Medical Sciences and Health Sciences in the discipline of Medical Sciences at the Children’s Memorial Health Institute

    • PhD dissertation title: Characterization of selected metabolic diseases with predominant expression in the liver

  • 2022 – Awarded the degree of Doctor of Medical Sciences and Health Sciences (habilitation) in the discipline of Medical Sciences at the Polish Mother’s Memorial Health Institute in Łódź

    • Habilitation thesis title: Clinical, biochemical, and molecular characteristics of congenital and secondary protein glycosylation and deglycosylation disorders

Professional Experience

  • Pediatric resident and later Assistant at the Department of Pediatrics, Nutrition, and Metabolic Diseases – Children’s Memorial Health Institute

  • November 2023 – Clinical internship in inherited metabolic diseases, including liver-related metabolic disorders, at the Zentrum für Kinder- und Jugendmedizin, University Hospital Heidelberg

Main Clinical and Scientific Interests

  • Inherited metabolic diseases (including lysosomal storage disorders)

  • Pediatric hepatology

Dr. hab. Patryk Lipiński is the author and co-author of numerous scientific publications. He is also the creator and author of the book "Metabolic Liver Diseases", published by Media-Press sp. z o.o., Warsaw, 2023. He has participated in numerous international scientific courses and has received multiple awards for his scientific achievements, including 8th place in the prestigious “Supertalents in Medicine” competition (2023). Together with a research team at the Children's Memorial Health Institute, he is currently leading a clinical study evaluating the effectiveness of ambroxol treatment in patients with Gaucher disease.

MD

Even Mol

MD

Even Mol

Cardiology

Education and Medical Training

  • Medical Degree from the State University of Ponta Grossa/PR, Brazil – 2017

  • Medical Residency in Internal Medicine at the University Hospital of the Federal University of Paraná – 2020

  • Medical Residency in Cardiology at the University Hospital of the Federal University of Paraná – 2022

  • Medical Residency in Heart Failure and Heart Transplantation at the Heart Institute of the University of São Paulo (USP) – 2023

 

Professional Experience:

  • Coordinator of the cardiomyopathy outpatient clinic at the Cajuru University Hospital – PUC/PR.

  • Physician on the Heart Failure team at Cajuru University Hospital and São Marcelino Champagnat Hospital – Curitiba/PR.

  • Preceptor of the Cardiology residency program at the Pontifical Catholic University of Paraná.

  • Preceptor at the Faculty of Medicine of the Pontifical Catholic University of Paraná.

  • Specialist in Cardiology certified by the Brazilian Society of Cardiology.

 

Medical and Scientific Interests

  • Sub-investigator in studies at the Pontifical Catholic University of Paraná, focusing on heart failure and cardiogenetics.
  • Focused on heart failure and rare cardiomyopathies.

Dr. Even, a partner physician of Saventic Care, graduated in medicine from the State University of Ponta Grossa/PR and has three residencies: Internal Medicine and Cardiology at the University Hospital of the Federal University of Paraná, and Heart Failure/Heart Transplant at the Heart Institute of the University of São Paulo's Hospital das Clínicas. In addition, Dr. Even is also a supervisor for the cardiology residency at Cajuru University Hospital - PUCPR and for the medical course at PUCPR.

MD, PhD

Grzegorz Basak

MD, PhD

Grzegorz Basak

Specialist in Internal Medicine, Hematology and Transplantology

Education

  • Earned his medical degree from the Faculty of Medicine at the Medical University of Warsaw (2003)

  • PhD in Medical Sciences – 2005

  • Habilitation (DSc) – 2012

  • Title of Professor – 2019

Professional Experience

  • Since 2005, he has been working at the Department of Hematology, Transplantology, and Internal Medicine at the Medical University of Warsaw

  • Completed two postdoctoral fellowships in the United States (Temple University and the University of California), specializing in experimental hematology and stem cell research

  • Since 2018, he has served as Head of the Department of Hematology, Transplantology, and Internal Medicine at the University Clinical Center of the Medical University of Warsaw

Main Clinical and Scientific Interests

  • Clinical aspects of hematopoietic stem cell transplantation

  • Cancer immunotherapy

  • The role of gut microbiota in hematology

  • Application of new technologies in medicine

Prof. Grzegorz Basak is a former scholar of the Foundation for Polish Science and recipient of the Scholarship for Outstanding Young Scientists awarded by the Ministry of Science and Higher Education. He was a laureate of the “Supertalents in Medicine” award in 2016, organized by Puls Medycyny, and a graduate of the Ministry's Top 500 Innovators program. He is a Board Member of the Polish Society of Hematology and Transfusion Medicine and a co-author of over 290 international publications, which have been cited over 4,700 times, with an H-index of 37.

MD, PhD

Małgorzata Sokołowska-Wojdyło

MD, PhD

Małgorzata Sokołowska-Wojdyło

Specialist in Dermatology and Venereology

Education

  • Graduated from the Faculty of Medicine at the Medical Academy in Gdańsk (now the Medical University of Gdańsk – GUMed) with a degree in medicine

  • Also completed a master’s degree in Biotechnology at the Intercollegiate Faculty of Biotechnology, University of Gdańsk

  • PhD in Medical Sciences – 2002

  • Habilitation (DSc) – 2011

  • Title of Professor of Medical Sciences – 2018

Professional Experience

  • 2001–2006: Assistant, then 2006–2015: Associate Professor at the Department and Clinic of Dermatology, Venereology, and Allergology at the Medical University of Gdańsk

  • Completed a 10-month research fellowship under the Otto-Braun-Falco Scholarship at the Laboratory of Experimental Dermatology, University Dermatology Clinic in Bonn, Germany (2002–2003), supervised by Prof. Thomas Tueting

  • Vice-Dean of the Faculty of Medicine, GUMed (2016–2020)

  • Since 2015: Professor at GUMed; since 2018: Professor of Medical Sciences

Main Clinical and Scientific Interests

  • Diagnosis and treatment of primary cutaneous lymphomas

  • Adverse effects of oncologic drugs

Prof. Małgorzata Sokołowska-Wojdyło has an impressive scientific track record. She has held leadership roles in research grants at the University of Bonn, the Polish Oncology Society, and the State Committee for Scientific Research (KBN). She is a co-author of patent P.427603, related to a biomarker for basal cell carcinoma of the skin, and the author of over 650 scientific publications. Highly committed to clinical work and teaching, she is consistently rated highly by students and actively participates in specialist training programs for future dermatologists, venereologists, and hematologists. She is a member of the Polish Lymphoma Research Group, which developed Poland’s first diagnostic and therapeutic guidelines for primary cutaneous lymphomas. She is also a passionate science communicator and frequently appears as an expert in the press, on television, and online.

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MD, PhD

Katarzyna Napiórkowska-Baran

MD, PhD

Katarzyna Napiórkowska-Baran

Specialist in Internal Medicine and Clinical Immunology

Education

  • Graduated with a medical degree from the Medical Academy in Bydgoszcz (now Collegium Medicum, Nicolaus Copernicus University in Toruń) in 2004

  • Completed specialization in Internal Medicine (2011) and Clinical Immunology (2014)

  • PhD in Medical Sciences – 2011

Professional Experience

  • Long-time staff member of the Clinic of Allergology, Clinical Immunology and Internal Medicine at University Hospital No. 2 in Bydgoszcz, currently working as a Senior Assistant

  • Assistant Professor at Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, where she teaches medical students, among others

Main Clinical and Scientific Interests

  • Diagnosis and treatment of patients with primary immunodeficiencies (PIDs)

  • Improving the quality of care for adults with PIDs

  • Influence of nutrition on the immune system

  • Role of gut microbiota in immune function

  • Impact of stress on the immune system

  • Promoting vaccination awareness

Dr. Katarzyna Napiórkowska-Baran is particularly committed to improving care and quality of life for patients with primary immunodeficiencies (PIDs). She is the author of national standards of care for adult PID patients and a former member of the Coordinating Team for the Treatment of Primary Immunodeficiencies. Her scientific achievements include dozens of published articles in both Polish and international journals. She is actively involved in medical education for patients, students, and physicians, and regularly appears in radio and television programs to raise public awareness of medical issues.

MD

Aleksandra Kucharczyk

MD

Aleksandra Kucharczyk

Specialist in Internal Medicine and Allergology

Education

  • Graduated from the First Faculty of Medicine at the Medical Academy in Warsaw (now the Medical University of Warsaw) in 1996

  • PhD in Medical Sciences – 2008

Professional Experience

  • Long-standing physician at the Department of Internal Medicine, Pulmonology, Allergology, and Clinical Immunology at the Military Institute of Medicine (WIM MON), Warsaw

  • Assistant Professor at the Military Institute of Medicine in Warsaw

Main Clinical and Scientific Interests

  • Biological treatment of patients with severe asthma, chronic spontaneous urticaria, and hereditary angioedema (HAE)

  • Epidemiology of severe asthma in Poland

  • Diagnosis and treatment of hereditary angioedema (HAE)

  • New diagnostic methods in allergology – molecular diagnostics

Dr. Aleksandra Kucharczyk is a member of the Polish Society of Allergology, the European Academy of Allergology and Clinical Immunology (EAACI), the European Society for Immunodeficiencies (ESID), the Endocrine Society, and the Young Immunologist Academy (YIA). Her scientific output includes dozens of articles published in both Polish and international journals. She is the co-author of the 2021 book "Modern Therapies in Allergology and Pulmonology", as well as several other textbooks and monographs in the fields of respiratory and allergic diseases. Since November 2021, Dr. Kucharczyk has also been a member of the Section for Autoinflammatory Syndromes and Angioedema within the Coordinating Team for Ultra-Rare Diseases.

MD, PhD of Jagiellonian University

Sylwia Kołtan

MD, PhD of Jagiellonian University

Sylwia Kołtan

Specialist in Pediatrics and Clinical Immunology

Education

  • Received her medical degree from the Faculty of Medicine at the Medical Academy in Gdańsk (1989)

  • Earned her PhD in 1998 with a dissertation on viral hepatitis in children with oncological diseases

  • Habilitation (DSc) in Medical Sciences – 2013

  • Appointed Professor at the Nicolaus Copernicus University (UMK) – 2019

Professional Experience

  • Works at the Department of Pediatrics, Hematology, and Oncology at Antoni Jurasz University Hospital No. 1 in Bydgoszcz and at the Department of Pediatrics, Hematology, and Oncology at the Collegium Medicum in Bydgoszcz

  • An academic teacher with many years of experience teaching both Polish- and English-speaking students

  • Served as the Voivodeship Consultant in Clinical Immunology for 8 years

Main Clinical and Research Interests

  • Rare immunological diseases

  • Molecular diagnostics

  • Immunization and preventive vaccination

Since 2019, Prof. Sylwia Kołtan has served as the National Consultant in Clinical Immunology. She is the author and co-author of numerous scientific publications and book chapters in the fields of pediatrics, hematology, pediatric oncology, and clinical immunology, including both research and review papers published in national and international journals. Prof. Kołtan values collaboration with patient communities and actively supports initiatives aimed at raising awareness about immunological diseases. Her involvement includes activities within Immunopoint and the Immunoprotect Association. She is also a member of the Polish Academy of Sciences (PAN). In her free time, she enjoys traveling, reading, and gardening.

MD, PhD

Beata Kieć-Wilk

MD, PhD

Beata Kieć-Wilk

Specialist in Endocrinologist, Diabetologist, Internist

Education

  • Graduated from the Faculty of Medicine at the Jagiellonian University Medical College (2001)

  • PhD in Medical Sciences – 2006

  • Specialist in Internal Medicine – 2007

  • Specialist in Diabetology and Laboratory Medical Genetics – 2011

  • Postdoctoral degree (habilitation) in Medical Sciences – 2013

  • Title of Professor of Medical Sciences awarded in 2020

Professional Experience

  • Physician at the Clinical Department of Metabolic Diseases and Diabetology, University Hospital in Kraków

  • Specialist affiliated with the Department of Clinical Biochemistry and the Department of Metabolic Diseases, Jagiellonian University Medical College in Kraków

  • Assistant Professor and lecturer at the Faculty of Medicine, Jagiellonian University Medical College

  • Lead author and co-author of over 120 scientific publications in genetics, molecular biology, diabetology, and rare metabolic diseases

  • Participant in numerous training programs and research projects in Germany, the Netherlands, Norway, and the United Kingdom

Main Clinical and Research Interests

  • Therapeutic programs for adult patients with mucopolysaccharidosis and treatment of Gaucher disease

  • Genetic sequence analysis in patients with monogenic forms of diabetes (MODY)

  • Investigation of epigenetic mechanisms in rare metabolic diseases

MD, PhD Beata Kieć-Wilk is an active member of the Polish Diabetes Association, Polish Society of Internal Medicine, European Society for Clinical Investigation, Society for the Study of Inborn Errors of Metabolism (SSIEM), and the European Working Group on Gaucher Disease.

MD

Laura Nathalia Perea Martinez

MD

Laura Nathalia Perea Martinez

Education

  • Diploma in Health Economy, Politecnico Suramericano, Medellín
  • Specialization in Pharmaceutical Marketing Management, Universidad del Bosque, Bogotá
  • Master in Public Health, Universidad de La Sabana, Chía
  • Doctor of Medicine (Public Health emphasis), Universidad de La Sabana, Chía

Professional Experience

2017–2018: Medical Intern, Subred Norte, U.S.S. Calle 80, Bogotá (various clinical rotations including ophthalmology, ENT, epidemiology, and internal medicine)

2018: Research Assistant, CESCUS, Universidad de La Sabana (Primary Healthcare and Health Management Group)

2019–2020: Social Service Physician, Hospital Pedro León Álvarez Díaz, Cundinamarca

2020: General Physician, Corvesalud IPS, Bogotá

2020–2022: Home Care and High-Cost Physician, SURA, IPS Salud en Casa, Bogotá

2022–Present: High-Cost Medical Liaison and Auditor, Salud Total EPS, Bogotá

2023–2024: Part-time Professor, Human Medicine Program, Universidad de Ciencias Aplicadas y Ambientales (UDCA), Bogotá

2024–2025: Independent Access Consultant, Menarini Colombia, Bogotá

Main Clinical and Scientific Interests

  • Early diagnosis and management of rare and oncological diseases
  • Pharmaceutical access and economic evaluation of high-cost treatments
  • Public health education and medical training
  • Development of clinical strategies for improved patient outcomes
  • Innovation in healthcare service delivery models

Dr. Laura Nathalia Perea Martinez holds a broad interdisciplinary academic background, including multiple diplomas in areas such as equity in health and the safe use of antibiotics. Her scientific work has involved publishing articles based on research conducted in rural communities in the Cundinamarca region. She actively participates in academic events and symposiums on health economics and public health innovation. Dr. Perea is known for her commitment to human-centered care and for promoting medical education through interactive learning methods.

MD

Carlos Magno Leprevost

MD

Carlos Magno Leprevost

Specialist in Genetics

Education

  • Graduated from the University of São Paulo – USP

  • Master’s degree from the University of São Paulo – USP

  • Specialist in Medical Genetics – USP – 2015

  • Full Member of the Brazilian Society of Medical Genetics

  • Postgraduate degree in Pediatric Neurology

  • Postgraduate degree in Endocrinology

  • Specialization program – Fellowship in Inborn Errors of Metabolism – Duke University – North Carolina

Professional Experience

  • Physician in the Department of Pediatric Neurology and Rare Diseases at the State Health Department of Paraná

  • Participant in various training programs and research projects in Brazil and the United States. Areas of expertise: autism, rare diseases, metabolic diseases, neurogenetics, epilepsy

  • International Member of the Autism Research Institute

  • 8 years of experience in the pharmaceutical industry as MSL, Medical Manager, and Medical Director in rare diseases, Fabry disease, Pompe disease, hematological diseases, oncology, and gene therapy

  • 2 years of experience in next-generation genetic sequencing (NGS) – Invitae – San Francisco, USA

  • Head of Telemedicine in Genetics and Pediatric Neurology at Hapvida/Notredame

Clinical and Research Interests

  • Therapeutic programs for pediatric and adult patients with Neurofibromatosis Type 1

  • Pro-bono follow-up program for patients with rare diseases

  • Molecular analysis in patients with rare diseases (exome, molecular panels)

Dr. Carlos Magno Leprevost is a medical geneticist trained at the University of São Paulo, a full member of the Brazilian Society of Medical Genetics (RQE 86412), and holds a postgraduate degree in endocrinology and inborn errors of metabolism from Duke University. He also coordinates the outpatient clinic for rare diseases, neuromuscular diseases, and neurodevelopmental disorders. He has worked as a medical manager at international pharmaceutical companies in the areas of inborn errors of metabolism, lysosomal diseases, rare hematologic disorders, oncogenetics, and gene therapy. In addition, he serves as a scientific consultant and specialist in genetic testing and next-generation sequencing (NGS). CRM SP 158199 | RQE 86412

MD

Mariana Soares

MD

Mariana Soares

Allergy and Immunology

Dr. Mariana earned her medical degree from the University of Marília (UNIMAR). She completed her residency in Internal Medicine at Irmandade Santa Casa de Misericórdia de Limeira and her residency in Allergy and Immunology at the University of Campinas (UNICAMP).

She currently serves as a preceptor in the Clinical Allergy and Immunology Department at UNICAMP.

CRM 208136 | RQE Internal Medicine: 109466 | RQE Allergy and Immunology: 124332

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