Alexandra Heumber Perry, MSc., is the Chief Executive Officer of Rare Diseases International, the global alliance of Persons Living with a Rare Disease. She has dedicated her entire career to improving healthcare policies to benefit people living with diseases, with a particular focus on neglected and vulnerable people. She has over 20 years’ experience in global health with demonstrated capabilities in patient advocacy and multi-stakeholder partnership. As CEO of RDI, Alexandra, drives the organization’s goals of raising awareness of rare diseases, improving access to diagnostics, treatments and care, advocating for the rights of patients around the world and representing its members and enhancing their capacities to ultimately improve lives of Persons Living with a Rare Disease.

Jeffrey Himmel is the Founder of the Harriet Joyce Foundation, a nonprofit advancing early childhood health in Latin America, particularly Ecuador. The Foundation partners with medical and research institutions to strengthen healthcare systems, build capacity in science and medicine, develop epidemiological data to inform policy, and support physicians and families. A seasoned healthcare entrepreneur, Himmel previously served as Chairman and CEO of The Himmel Group, leading the growth and sale of major consumer health brands. In 2025, he was appointed Strategic Advisor to the Rare Disease International–Lancet Commission, advising on pathways from global recommendations to country-level execution—especially in Latin America—bringing expertise in health financing, public–private partnerships, and implementation strategy. Himmel has spoken widely on rare disease across Latin America, Europe, and Asia.

Dr. Roberto Giugliani is co-chair of the RDI-Lancet Commission on Rare Diseases, full Professor of Genetics at the Federal University of Rio Grande do Sul (UFRGS) in Porto Alegre, Brazil, and founder of the Medical Genetics Service at Hospital de Clínicas de Porto Alegre. He co-founded Casa dos Raros, the first comprehensive rare disease center in Latin America, and the Genetics for All Institute. He serves as Coordinator of the Brazilian National Institute of Population Medical Genetics (INAGEMP), Head of Rare Diseases at DASA Genomics, and Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening. With more than 500 scientific publications and leadership roles in major genetic societies, Dr. Giugliani has supervised over 100 graduate students and delivered more than 800 lectures worldwide. A recipient of Brazil’s National Order of Scientific Merit, he is globally recognized for his contributions to advancing diagnosis, treatment, and policy for rare and metabolic diseases.

Nut. Verónica Cornejo, MSc. University professor, nutritionist, and holder of a master’s degree in human nutrition from the University of Chile, she specialized in metabolic diseases at Children’s Hospital Los Angeles (USA). Verónica Cornejo has been a member of the Advisory Committee of the National Neonatal Screening Program for Phenylketonuria and Congenital Hypothyroidism of the Ministry of Health since 1995. Author of more than 90 national and international publications, more than 70 book chapters and educational materials, and editor of the books Errores Innatos del Metabolismo del Niño (Inborn Errors of Metabolism in Children, 4th ed.) and Nutrición en el Ciclo Vital (Nutrition in the Life Cycle). She was recently appointed by the Ministry of Health as a member of the Technical Advisory Commission on Rare Diseases, as a “national expert professional.” Until recently, she directed the Laboratory of Genetics and Metabolic Diseases (INTA) and is the academic director of specialization courses in Chronic Noncommunicable Diseases of Nutritional Origin, Diagnosis and Treatment of Inborn Errors of Metabolism, and Ketogenic Diet in Refractory Epilepsy.

Dr. Richard Parad is an attending neonatologist and Associate Professor of Pediatrics, Department of Pediatric Newborn Medicine, Harvard Medical School Department of Pediatrics, Brigham and Women’s Hospital. He directs the Neonatal Genomic Medicine Program at Brigham and Women’s Hospital. Dr. Parad’s research focuses on genomic sequencing for screening and diagnosing disorders in newborns, as well as clinical trials for improving treatment of neonatal lung disorders. He completed his medical degree at the University of California, San Diego, and his residency and fellowship at Boston Children’s Hospital. He underwent dual training in Perinatal-Neonatal Medicine and Pediatric Pulmonology at Boston Children’s Hospital. He is the Director of the Program in Newborn Genomics. In addition to caring for newborns in the Newborn Intensive Care Unit (NICU), he is a core member of the Growth and Development Unit (GDU) faculty and the Antenatal Consult team.

Wendy Chung, MD, PhD is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease. She is the Principal Investigator of the GUARDIAN study (Genomic Uniform-screening Against Rare Diseases in All Newborns), which uses genome sequencing to expand newborn screening by identifying additional actionable genetic conditions—advancing earlier diagnosis, timely intervention, and equity in access to care Dr. Chung is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

Dr. David Bick is Principal Clinician for the Newborn Genomes Programme at Genomics England. He previously served as Chief Medical Officer and a faculty investigator at the Hudson Alpha Institute for Biotechnology and has held senior clinical sequencing and genetics leadership roles in U.S. academic children’s hospitals. He is board certified in pediatrics, clinical genetics, and clinical molecular genetics, and is widely recognized for pioneering early clinical implementation of whole-genome sequencing and genomic medicine clinic models.

Dr. Jorge Lascano is an Ecuadorian physician and recognized expert in cystic fibrosis and pulmonary medicine. He currently serves as Associate Professor of Medicine and Director of the Adult Cystic Fibrosis Program at the University of Florida College of Medicine, where he also directs clinical education and residency training within the Division of Pulmonary and Critical Care. Dr. Lascano completed his medical degree at Universidad Católica in Ecuador, followed by residency and fellowship training in Internal Medicine and Pulmonary Disease & Critical Care at the University of Miami. His clinical and academic work focuses on cystic fibrosis, rare pulmonary disorders, and complex respiratory care.

Dr. Daniel Sánchez is a physician with training and experience in public health and hospital management, skills that have enabled him to serve and lead in several healthcare institutions across the country, including the “Dr. José Daniel Rodríguez” Infectious Diseases Hospital and the Hospital de Especialidades. He has also served as a Coordinator for the Ministry of Public Health in Zones 5 and 8, where he successfully implemented health-sector programs and policies.

Félix Garza is President of the Federation of Rare Diseases of Ecuador, where he works with patient organizations, clinicians, and policymakers to strengthen rare disease recognition and improve access to diagnosis, care, and orphan therapies. He advocates for patient-centered health policy, equitable coverage decisions, and the inclusion of lived experience in national rare disease strategies—amplifying patient voices and supporting families across Ecuador’s rare disease community.

Dr. Solana Terrazas Martins is a Chilean physician and public health specialist with advanced training in epidemiology and real-world evidence (RWE). She has held positions in both the public and private sectors, with extensive experience in cancer epidemiology, health policy implementation, and developing innovative intersectoral strategies for the health system. She has collaborated in the incorporation of new technologies into Law No. 20,850, which “Creates a financial protection system for high-cost diagnoses and treatments and pays posthumous tribute to Luis Ricarte Soto Gallegos,” and in the incorporation of new health issues into Law No. 19,966, which “Establishes a Health Guarantee Regime.” She currently serves as an academic in the Department of Public Health at the Autonomous University of Chile, Senior Advisor on policies for access to high-cost medicines at Sway Latam, and Director of Health Innovation at Workmed Chile.

Dr. Manuel Saborío is a physician with extensive expertise in pediatrics and clinical genetics, and the current President of Latin American Society for Inborn Errors of Metabolism and Neonatal Screening, with a professional career dedicated to the diagnosis, management, and prevention of congenital, hereditary, and metabolic diseases in pediatric populations. He earned his medical degree from the University of Costa Rica in 1982 and completed his specialization in Pediatrics in 1987 at the University of Costa Rica School of Medicine. In 1990, he obtained a specialization in Medical Genetics from the Johns Hopkins University School of Medicine, followed by advanced training in Health Services Administration at the Central American Institute of Public Administration in 2008. From 2001 to 2023, Dr. Saborío served as Head of the Medical Genetics Service at the National Children’s Hospital of Costa Rica, where he led clinical care and research focused on congenital malformations, hereditary disorders, pediatric diseases, and inborn errors of metabolism. During the same period, he was Director of Costa Rica’s National Newborn Screening Program, playing a central role in strengthening early detection strategies and improving long-term health outcomes for children nationwide.

Dr. Heydi Sanz is a pediatric neurologist based in Cochabamba, Bolivia, committed to advancing child neurological health through clinical care, academic engagement, and community-based initiatives. She practices at the Manuel Ascencio Villarroel Children’s Hospital, a national public referral hospital, and serves as a faculty member at the Universidad Mayor de San Simón, teaching at both undergraduate and graduate levels. She has extensive experience in the comprehensive evaluation, diagnosis, and management of pediatric neurological disorders, including epilepsy, neurodevelopmental disorders, sleep disorders, and other complex neurological conditions. Her clinical approach is holistic and patient-centered, focused on improving the quality of life of children and their families. Dr. Sanz is a founding member of the Bolivian Society of Pediatric Neurology and an active member of Fundación Qhana Uj, dedicated to the prevention of leukodystrophies, as well as the Bolivian Association of Rare Diseases, where she contributes to efforts aimed at early diagnosis, awareness, and multidisciplinary care for rare neurological conditions.

Dr. Juan Francisco Cabello is co-chair of the RDI-Lancet Commission on Rare Diseases and a pediatric neurologist with more than two decades of experience at the intersection of clinical care, medical education, and public health policy. He holds academic appointments at the University of Valparaíso and the INTA of the University of Chile and serves as an Adjunct Faculty Member in the Department of Neurology at Boston Children’s Hospital. His clinical and research focus centers on inborn errors of metabolism, newborn screening, and rare diseases, where he has led initiatives to expand national screening programs and develop multidisciplinary models of care across Latin America. He previously served as President of the Latin American Society for Inborn Errors of Metabolism and Newborn Screening (SLEIMPN) and currently advises committees within Chile’s Ministry of Health. Throughout his career, Dr. Cabello has championed international collaboration to address inequities in the diagnosis and treatment of rare and metabolic diseases. In his current role as Senior Vice President for Latin America at Uncommon Cures, he contributes to building sustainable, locally led infrastructures for access to diagnostics and therapies.

Dr. Jimmy Martin is a physician and public health expert who previously served as Minister of Public Health of Ecuador and currently acts as Scientific and Medical Advisor to María José Pinto, Vice-president of Ecuador and acting Minister of Health. Dr. Martin has extensive experience across both the public and private health sectors. In 2024, he served as National Director of Health Research at Ecuador’s Ministry of Public Health, where his leadership and technical rigor contributed significantly to advancing evidence-based public health policies. His academic background includes a PhD from Universidad Miguel Hernández de Elche (Spain), a master’s degree in public health from the Carlos III Health Institute (Spain), and medical training from Universidad Católica de Santiago de Guayaquil. Professionally, Dr. Martin has worked as an international consultant for the Pan American Health Organization (PAHO/WHO) in several countries across the region, and as a university professor at Universidad Católica de Santiago de Guayaquil. His work is driven by a strong commitment to public service, with the goal of promoting public policies that benefit Ecuador’s 18 million citizens and ensuring that universal access to health care is timely, equitable, and free of charge.

Dr. Alcy R. Torres, FAAP, received his MD from Universidad Central del Ecuador, completed his pediatric residency at Nicklaus Children’s Hospital, and neurology training at the Longwood Neurology Program, Harvard Medical School (HMS). He then completed the Pediatric Neurology Fellowship at Boston Children’s Hospital, HMS, where he remained on staff for 13 years before becoming Director of the Pediatric Brain Injury Program at Boston Medical Center and Professor of Pediatrics and Neurology at the Boston University Chobanian and Avedisian School of Medicine. He is an international leader in pediatric neurology with outstanding clinical, educational, research, and publication records. He pioneered a new treatment method for CNS folate deficiency, dramatically changing patient outcomes; this work is listed as a reference in the NIH library.

Dr. Mariana Rico is Vice President and Medical Director of Americas Health Foundation, based in Bogotá Colombia and trained at Pontificia Universidad Javeriana. She has a background in public health and works to advance access to healthcare across Latin America. She has led over 70 consensus conferences, task forces, and technical reports, collaborating with Ministries of Health, regulatory agencies, key opinion leaders, medical societies, and patient organizations to support evidence-based decision making across the region. Her work focuses on the policy and economic dimensions of rare diseases, vaccines, oncology, infectious and autoimmune diseases, and women’s health. She specializes in issues related to priority setting, resource allocation, and access to health innovation, with an emphasis on reducing inequities and strengthening the sustainability of public health systems. Dr. Rico has authored over 30 international publications and has extensive experience building multi stakeholder platforms that support national and regional health strategies across Latin America.

Felicitas Colombo, MSc, is a public health policy specialist with over 20 years of experience promoting regional and global impact strategies and multisectoral collaboration. She is currently Director of Public and Government Affairs at the Americas Health Foundation, where she works on regulatory analysis, public policy, advocacy, access, and health governance in Latin America and the Caribbean. In 2021, she launched the Rare Diseases in the Caribbean and Latin America (ERCAL) platform, a regional group that brings together patient organizations and key stakeholders from 11 countries to improve early diagnosis, access to treatment, patient registries, and regulatory frameworks for rare diseases. She has also organized and positioned the first two Latin American Congresses on Rare Diseases in leading forums for regional dialogue. Felicitas has a degree in Social Communication and an Executive Master of Public Administration from the London School of Economics (LSE), specializing in regulatory analysis and public policy design.

Dr. Tatiana Roy is an internist and specialist in diabetes and obesity, currently practicing in Paraguay. Her professional career is deeply informed by a personal experience that has shaped her strong commitment to rare diseases. She is the mother of two daughters with glutaric aciduria type 1—one diagnosed early and the other diagnosed later, with resulting sequelae. This dual perspective has given her a profound understanding of the importance of early diagnosis, access to appropriate treatment, and comprehensive support for patients and their families. Through her combined roles as a physician and a mother, Dr. Roy actively advocates for greater visibility of rare diseases in Latin America and contributes to the development of more equitable, empathetic, and patient- and family-centered health systems.