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Speaker 29. February 2020

Speaker: Prof. Atul Mehta, MD

Professor Mehta is a Consultant Haematologist and Physician at the Royal Free Hospital in London, part of the Department of Haematology of University College London School of Medicine. He completed his undergraduate training at Cambridge University and King’s College Hospital. He then trained in General Internal Medicine at King’s College Hospital and Hammersmith Hospital in London and in Haematology at the Hammersmith Hospital. His Doctorate in Medicine was sponsored by the Medical Research Council and he spent two years examining molecular mechanisms underlying aplastic anaemia at the Imperial College, London. He has been in his current post since 1986. He is Clinical Director of one of the nationally designated Lysosomal Storage Disorders Units, which focus on multidisciplinary assessment and treatment of LSDs. This is one of the largest centres for adult patients with inherited metabolic diseases in the UK, and he works with a team of nurses, physicians and researchers who are committed to developing and delivering care to patients and families.

He is also the Head of the Myeloma service in the largest hospital in London. The service is provided by 4 consultants and 4 nurses, who provide high quality clinical services as well as running clinical and laboratory research.

He is a senior examiner in Haematology and Medicine at the University of London and with the Royal College of Pathologists. He is the author of 3 books, more than 40 Chapters and over 300 publications in peer reviewed journals.

Speaker: Robert W. de Deugd

Robert executes the position of Senior Vice President at CENTOGENE, spearheading market distribution of diagnostic solutions for individual patients and physicians. Prior to joining CENTOGENE in 2017, he held executive leadership roles of large-scale geographies, management of countries, and market clusters within publicly and privately held companies in a variety of sectors, such as healthcare, industry, and consumer. Having vast international know-how from various industries in Europe, the Middle-East, Africa, Asia-Pacific, and Latin America, Robert brings extensive experience in global strategy implementation. Through his years of living and working abroad in several European and Asian countries, Robert has a deeper understanding of cultural dynamics, practices, and experiences. 

Speaker: Eliecer Isaías Quispe

Lawyer by profession, Eliecer Isaías Quispe started defending the rights of patients with lysosomal storage disorders in 2011. One of his most notable actions has been the proposal of the Law for Rare Diseases in Ecuador, which he went on to defend its legal and constitutional compliance. In 2013, he co-founded the Ibero-American Alliance of Rare Diseases (ALIBER). He currently promotes social action for people affected by rare diseases among state institutions in Ecuador, achieving interest in a new legislation while including education surrounding primary prevention of new births with rare diseases due to consanguinity or endogamy.

Speaker: Dr. Abdieel Esquivel

Dr. Abdieel Esquivel has a PhD in Pharmacology from the Center for Research and Advanced Studies of the National Polytechnic Institute in Mexico (CINVESTAV-IPN Mexico). He is currently an academic and member of the Bioethics and Health Research Committee of the Clinical Research Center (CICA) as well as a member of the Board of Directors of the Mexican Pharmaceutical Association.

Speaker: Karla Ruiz de Castilla

With a master's degree in Economics and Administration from the University "la Sapienza" in Rome, Karla Ruiz de Castilla has been collaborating with the patient association ESPERANTRA in Peru since its inception in 2005. She has worked for more than 10 years on the improvement of the safety and quality of life of patients with chronic and high cost diseases in Peru – helping to increase the recognition of the voice and participation of the patients as a fundamental part in the decision making of health and patient-centered medicine.

Speaker: Regina García Próspero

Regina García Próspero is a mother of two children affected by mucopolysaccharidosis and a co-founding member of the Ibero-American Alliance for Rare Diseases (ALIBER). Currently, she also serves as Vice-President of the Institute for Rare Lives in Brazil and a member of the working group of the Ministry of Health for Rare Diseases in Brazil.

Speaker: Juan Carrión

Juan Carrión is the President and Founder of the Spanish Federation of Rare Diseases (FEDER), President of the Ibero-American Alliance of Rare Diseases (ALIBER), Founder of the Association of Rare Diseases and Other Serious Developmental Disorders (D'Genes), and the Spanish Association of Lipodystrophies (AELIP). A social worker by profession, he has worked in numerous organizations and institutions with the aim of promoting autonomy and quality of life in different sectors of society.

Speaker: Dr. Juana Inés Navarrete

Juana Inés Navarrete is a doctor and specialist of Medical Genetics at the National Institute of Nutrition with recognition from the National Autonomous University of Mexico and a subspecialty in Lysosomal Deposit Diseases from the Mount Sinai Hospital in New York. Course of Prenatal Cytogenetic Diagnosis at the Department of Genetics of the University Hospital of Seattle Washington in 1982.

Speaker: Luz Victoria Salazar

Luz Victoria Salazar is a supporter of the Orphan Disease Law in Colombia and defender of its application throughout the nation. Additionally, he is Founder and Executive Director of the Inter-Institutional Observatory of Orphan Diseases in Colombia, as well as a member of the table for Orphan Diseases of the Ministry of Health in Colombia. He is also the creator of the Colombian Network of Support for Patients with Family Hypercholesterolemia, the Colombian Network of Patients with X-linked Rickets, and other organizations that defend the interests of patients with this type of disease.

Speaker: Xochitl Noemi Mendoza Morales

Xochitl Noemi Mendoza Morales is the President of the Asociación Mexicana de Amigos Metabólicos A.C., member of the Mexican Organization for Rare Diseases (OMER), and member of the Ibero-American Alliance for Rare Diseases (ALIBER). Additionally, he is a founding member of the Mexican Federation of Rare Diseases (FEMEX) and the National Observatory of Neonatal Screening. Its main activity has been focused on promoting and influencing the implementation of Expanded Neonatal Metabolic Screening at a national level, as well as the follow-up and treatment of patients affected by some Inborn Error of Metabolism.

Speaker: David López García

David is a biologist, trained in marketing and business management. He brings more than 20 years of experience in the pharmaceutical industry, with the last 10 years especially being dedicated to the field of rare diseases. He is currently General Manager of BioMarin in Mexico.

Speaker: Dr. Jordi Pérez López

Dr. Jordi Pérez López is a Doctor of Medicine and Specialist in Internal Medicine. He was founder and coordinator of the Rare Diseases Working Group of the Spanish Society of Internal Medicine and the founding President of the Association for the Development of Centres, Services and Reference Units for Adult Patients With Inborn Errors of Metabolism (ADCSUR). Previously, he worked at the Rare Disease Unit of Valle de Hebron Hospital (Barcelona, Spain), where he was responsible for the multidisciplinary coordination of patients with rare diseases and their transition to adulthood from pediatric care services. Currently, he is responsible for patient counselling and support at CENTOGENE (Berlin, Germany).

Speaker: Alejandra Zamora

With a degree in Commercial Relations, Alejandra Zamora has worked for more than 20 years, defending patients' rights in various organizations in Mexico at all social and administrative levels. She is currently the National Coordinator of the Fabry Disease Patient Support Group in Mexico.

Speaker: Dr. Jesús Navarro

Dr. Jesús Navarro is a surgeon, having dedicated more than 15 years to defending people affected by rare diseases. He is the founding President of the Mexican Association of Mucopolysaccharidoses based in Jalisco (MPS JAJAX AC) and of the Mexican Organization of Rare Diseases (OMER). He is also founding Vice President of the Ibero-American Alliance for Rare Diseases (ALIBER) and a member of several national and international committees for the support of patients with rare diseases.

Speaker: Nicolas Linares

Industrial Engineer and master degree of business management with more than 15 years of experience in multinational pharmaceutical companies with particular emphasis on biotechnology, high specialty and orphan diseases in both Colombia and Mexico. He worked at Sanofi Genzyme for 10 years leading different business units of lysosomal deposit diseases, specifically Fabry in Colombia and Gaucher and Mucopolysaccharidosis Type 1 in Mexico. Later he worked with Business Unit Director/Interim General Manager of Alexion Mexico carrying products for Paroxysmal Nighttime Hemoglobinuria, Atypical Hemolytic Uremic Syndrome, Acid Lipase Deficiency and Hypophosphatasia. I am currently the General Director of Ultragenyx, which began operations in Mexico in July 2017, initially introducing a therapy for X-linked Hypophosphatemic Rickets and Type 7 Mucopolysaccharidosis.

Speaker: Lizette Arnaud López

Doctor in Medicine and Specialist in Human Genetics, Dr. Lizette Arnaud López currently works at the division of Pediatrics in the Medical Genetics area of the New Civil Hospital of Guadalajara. She is the coordinator of the lysosomal storage disorders program and part of the research and ethics committees at her hospital. She is also Secretary of the Mexican Association of Human Genetics.

Speaker: Dr. Juana Inés de la Cruz Morales García

Medical doctor and specialist in applied epidemiology, she has coordinated community health programs throughout her career, including programs on breastfeeding, epidemiological surveillance, and vaccine-preventable diseases. She is currently responsible for the area of neonatal disease prevention and neonatal screening at the Mexican Institute of Social Security (IMSS).

Images displayed with permission to use by those featured.