Speakers
AGYEI WIAFE Samuel
Founder/Executive Director, Rare Disease Ghana Initiative Samuel Agyei Wiafe is a Clinical Psychologist; Founder/Executive Director of Rare Disease Ghana Initiative. After running into a family with an undiagnosed syndrome, he immediately had clear what the impact of these diseases can be on the people affected and those close to them, as well as the incredible challenge […]
ALARCÓN RIQUELME Marta
My background in Medicine, Immunology, and Genetics make a unique combination and provide me with the tools I need to carry out this project successfully. For over 20 years of my research career, I have focused on the identification of the genetic basis of SLE as a first building block toward understanding how such genes […]
BATSU Isabela
Isabela is the Global Project Head for the clinical development of the GM2 Gangliosidoses and Gaucher Disease programs at Sanofi devoted to chasing the miracles of science to improve people’s lives. As a dynamic and passionate leader in rare diseases, Isabela is responsible in building cross-functional teams to optimize development, execution and maximize efficiencies for […]
BAYNAM Gareth
Gareth Baynam is a the Medical Director of the Rare Care Centre at Perth Children’s Hospital in WA, a clinical geneticist, intrapraneur and clinician scientist. Gareth equitably translates innovations focussed to unmet rare diseases (RD) need, including through public and public- private partnerships, locally and internationally. He has led the clinical implementation of genomic and […]
BENVENUTI Stefano
Stefano Benvenuti is Head of Public Affairs at Fondazione Telethon (Italy) since 2021. He represents Fondazione Telethon in the International Consortium for Personalized Medicine (ICPerMed) and in the International Rare Diseases Research Consortium (IRDiRC). He co-chairs the ICPerMed Working Group on Health Economic Value of Personalised Medicine Approaches and represents Fondazione Telethon in the Executive […]
BOYCOTT Kym
Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease […]
BROOKS Philip John (P.J.)
Philip J. (P.J.) Brooks is the acting director of NCATS’ Division of Rare Diseases Research Innovation. Brooks represents NCATS in the NIH-wide Gene Therapy Working Group, the Regenerative Medicine Innovation Project and the International Rare Diseases Research Consortium (IRDiRC). He also is the working group co-coordinator for the NIH Common Fund program on Somatic Cell Genome Editing, one […]
BUCKINX Tim
Tim Buckinx is the founder and CEO of epihunter. Tim has a professional background in global digital strategy leadership and is the father of a son with ring chromosome 20 syndrome, a type of rare refractory epilepsy. In 2015, his son, at that moment 10 years old, asked Tim « Papa, you work in digital, can’t […]
CANAUD Guillaume
Guillaume Canaud is a MD, PhD working at hôpital Necker Enfants Malades (Paris). He did his medical school in Montpellier and moved to Paris in 2002 to perform his Residency in Nephrology (2002 to 2007). He became Senior Resident in the Renal Division of Necker (Prof. Legendre) from 2007 to 2012. Concurrently, he spent four […]
CORNEL C. Martina
Martina Cornel, M.D, Ph.D. (1959) is professor of Community Genetics and Public Health Genomics at the Amsterdam University Medical Center. She is a physician and epidemiologist. Since 2000, she has mainly been working on the responsible implementation of genetic testing & screening. She is the former chair of the Public and Professional Policy Committee (PPPC), of the European […]
DOOMS Marc
Mr. Dooms (Pharm D) is Senior Orphan Drug Pharmacist at the University Hospitals Leuven. He is compounding/dispensing pharmacist in First in Men Randomized Clinical Trials. He has been a member of the Belgian Order of Pharmaceutical Sciences and the Flemish Society of Hospital Pharmacists (VZA) since 1975 and the Belgian representative to the European Union of Experts in Rare Diseases with […]
DRAGHIA-AKLI Ruxandra
Ruxandra Draghia-Akli, is Global Head, Johnson & Johnson Global Public Health R&D, where her and her team advance global public health into the next era of innovation through discovery, development, and technology capabilities. She accelerates GPH’s end-to-end strategy by collaborating with teams across Johnson & Johnson on assets with application in global public health settings. […]
FOREMAN Julia
Julia is Project Manager for DECIPHER, an international web-based platform that shares anonymised genetic and phenotypic data from rare disease patients and provides variant interpretation interfaces. DECIPHER helps clinical and research teams to assess the pathogenicity of variants and to share patient data, which is key to discovery and diagnosis. The platform is under continual […]
GLEIZES Pierre-Emmanuel
Pierre-Emmanuel Gleizes is professor of cell biology at the University of Toulouse, France, and group leader at the Center for Integrative Biology (CBI; cbi-toulouse.fr/eng/). His work focuses on the mechanisms of ribosome biogenesis in human cells and the cellular disorders associated with defects in ribosome synthesis. This includes the characterization of new molecular and cellular […]
GROPMAN Andrea
Andrea Gropman, MD, FAAP, FACMG, FANA, is Division Chief, Neurodevelopmental Disabilities and Neurogenetics at the Children’s National Medical Center and Professor (tenured) of Pediatrics, Neurology, and Genomics and Personalized Medicine at the George Washington University of the Health Sciences. She received her undergraduate degree from Brandeis University, and her Medical education from the University of […]
GROZA Tudor
Tudor Groza is an experienced computer scientist with a background in knowledge representation, ontologies, natural language processing, and artificial intelligence in precision medicine. His work spans across various dimensions of the research – clinical care continuum, from devising algorithms to support clinical decision-making in the rare disorders field to standardization of clinical terminology and integration […]
JONKER Anneliene
Anneliene Jonker, PhD, is the Programme Lead of Personalized Medicine of the TechMed Centre, at the University of Twente, in Enschede, The Netherlands and a senior Funding and Strategy officer at the same institute. In this position, she is responsible for setting up projects with different researchers in the personalized medicine-, medtech, and rare diseases […]
KLAP Paulien
Paulien Klap is an industrial designer with focus on assistive devices developed with the users. She joined the Yumen Bionics team in 2017. Her strength lies in combining interdisciplinary approaches and her work contributed significantly to improving the design of the exoskeleton so that it is tailored to home use without professional supervision. Paulien’s first-hand […]
LANKESTER Arjan C
After obtaining his M.D. from the University of Leiden and a PhD on B cell receptor signaling from the University of Amsterdam, he was trained as pediatrician-immunologist at Leiden University Medical Center (LUMC). Since 2009 he is clinical director of the JACIE-accredited Pediatric Stem Cell Transplantation program which serves as the national center for stem […]
LARCHER Fernando
Dr Fernando Larcher is an expert in the field of skin regenerative medicine with a strong background in experimental skin carcinogenesis, tissue engineering, genodermatoses modeling and cell and gene therapies. For more than 20 years, Dr Larcher’s laboratory at the CIEMAT’s Biomedical Innovation Unit in Madrid has been devoted to translational research in the field […]
LEE Kerry Jo
Dr. Kerry Jo Lee is the Associate Director for Rare Diseases in the Division of Rare Diseases and Medical Genetics, Office of New Drugs (OND), Center for Drug Evaluation and Research (CDER). In this role she leads the Rare Diseases Team, a multidisciplinary rare disease programming and policy team that works to promote their mission […]
MORRIS Carl
Dr. Carl Morris is the Chief Scientific Officer for Solid Biosciences, joining the company in September 2015. Dr. Morris is a member of the Senior Management team at Solid Biosciences and is responsible for overseeing the company’s drug discovery and preclinical development efforts. Prior to joining Solid, Dr. Morris was a Senior Director for Pfizer’s […]
PANNESE Lucia
Lucia Pannese is a passionate entrepreneur who established one of Europe’s leading and pioneering serious games companies, Milan-based imaginary, in 2004. With her background in mathematics and a very creative, multicultural mind, she acts as both CEO and Research Director and has published numerous international articles and papers. Her company, Imaginary, is recognized internationally for […]
PARISER Anne R.
Anne Pariser is the VP of Medical and Regulatory Affairs at Alltrna, the world’s first tRNA platform company seeking to develop tRNA as a therapy that could be used in thousands of genetic diseases. Prior to joining Alltrna, Dr. Pariser was the Director of the Office of Rare Diseases Research (ORDR) at the National Center […]
SAHEL José-Alain
José-Alain Sahel, MD, trained at Paris University Medical School, Louis Pasteur University, Strasbourg, and Harvard University. He is the Endowed Distinguished Professor and Chairman of the Department of Ophthalmology at the University of Pittsburgh School of Medicine/UPMC. He founded the Vision Institute (Sorbonne Université-Inserm-CNRS) in Paris, France, and the Vision Institute at UPMC, opening in […]
STOYANOVA Violeta
Dr. Violeta Stoyanova-Beninska is the Chair of the Committee for Orphan Medicinal Products at the European Medicines Agency (EMA) since 2018. Before that she has been member of the COMP representing The Netherlands, Chair of the National Scientific and Regulatory Advice at the Medicines Evaluation Board, member of CNS working party and Scientific advice working […]
THOMAS Yarlalu
Yarlalu Thomas is an Aboriginal Australian from the Nyangumarta Pitjikarli group. He is, originally from a small Aboriginal community called Warralong, in the Pilbara desert region of North West Australia. The first in his community to complete a high-school certificate, he enrolled in a Bachelor of Medical Science and Doctor of Medicine (MD) currently in […]
VAILLANCOURT Julienne
Julienne (Julie) Vaillancourt is a pharmacist and a captain in the United States Public Health Service Commissioned Corps (US PHS CC). Since mid-2015, she has served as a policy advisor in the Office of the Director at the US Food and Drug Administration’s Center for Biologics Evaluation and Research (FDA/CBER) and serves as the Center’s […]
VAN KARNEBEEK Clara
Professor Clara VAN KARNEBEEK is Director of the Emma Personalized Medicine Center and principal investigator at the Amsterdam University Medical Centres, The Netherlands and affiliated with the University of British Columbia in Vancouver Canada. Clara’s work as a pediatrician and biochemical geneticist focuses on early diagnosis and innovative treatment of neurometabolic diseases in a P4-medicine […]
VITARELLO Julia
In December 2016, Julia founded Mila’s Miracle Foundation (MMF) upon learning that her seemingly healthy six-year-old daughter, Mila had Batten disease, a fatal genetic condition with no cure. In an unprecedented race against time to save her daughter, Julia’s collaboration with Dr. Timothy Yu from Boston Children’s Hospital (BCH) led to the first ever drug […]
