About the Speakers

Prof. Ada Yonath pioneered and is studying the structural basis of a universal and fundamental process: translating the genetic code into proteins. She is focusing on ribosomes, the cellular “factories” performing this task. Based on the universality of the ribosomes, she is exploring the origins of life as well as the ribosome’s clinical significance. Due to their fundamental function, ribosomes are targeted by many antibiotics. Thus, by investigating their action alongside the mechanisms acquiring antibiotics resistance, she is revealing novel routes for structure-based drug improvements and design. Born in Jerusalem, Ada Yonath studied at the Hebrew University, earned her Ph.D. degree from the Weizmann Institute of Science (WIS) and completed postdoctoral studies at Carnegie Mellon University and MIT in USA. Early in her career, Dr. Yonath established the first laboratory for protein crystallography in Israel, the only laboratory of this kind in that country for almost a decade. She then spent a sabbatical leave at Chicago University and served as a lecturer at several universities, including Valdivia in Chile. Currently Dr. Yonath is the Kimmel Professor of structural biology and the Director of the Kimmelman Center for Biomolecular Structure and Assembly at the WIS. In parallel with her work at WIS, during 1986- 2004 time frame, Dr. Yonath directed the Max-Planck-Research-Unit for Ribosome Structure in Hamburg, Germany. Dr. Yonath is a member of the US National Academy of Sciences; the American Academy of Arts & Sciences; the Israel Academy of Sciences & Humanities; the European Molecular Biology Organization (EMBO); the European Academy of Sciences & Art; the German Academy of Sciences (Leopoldina); the Korean Academy for Science & Technology; the Royal Chemical Society-UK, the International Academy of Microbiology and the International Academy of Astronautics. She holds honorary doctorates from almost all Israeli Universities; from KEK, Japan; Oslo University, Norway; Fujian University, China; NYU and Mount Sinai Universities, NYC; Hamburg University; Patras University, Greece; Oxford and Cambridge Universities, UK; and the Baptist University, Hong Kong. Dr. Yonath’s awards include the 1st European Crystallography Prize; the Israel Prize; the Paul Karrer Gold Medal; the Israel EMET Award; the Rothschild Prize; the Louisa Gross Horwitz Prize of Columbia U, NY; the Paul Ehrlich-Ludwig Medal; the Linus Pauling Gold Medal; the Anfinsen Prize; the Wolf Prize; the Massry Award; the UNESCO/L’Oreal Award for Women in Science; the Albert Einstein World Award for Excellence; the Erice Peace Prize; the DESY Pin; the Exner Medal; the Indian PM Gold Medal; the President of Panama Award; the Maria Sklodowska-Curie Medal of the Polish Chemical Society; the Cite of Florence Prize; the Datta Medal; and the 2009 Nobel Prize for Chemistry.

Medical Doctor, Faculty of Medicine, Technion Institute of Technology, Haifa. Israel. Expert in Pediatrics by the Israeli Ministry of  Health Jerusalem Israel. MHA School of Public Health and MA, LL.M. in Health and Bio-Ethics law Haifa University, Haifa, Israel.

1998 – 2013 clinical and administrative positions in the Health Insurance Companies in Israel.

11-12/2006 International mission, Ron Hospital in Nauru. Sent by the  Office of international Affairs and HARI.   

2013 -  Head of department for child development  and rehabilitee, Ministry of health office Jerusalem, Israel.

Current position: Head, Department of International relations, Ministry of Health, Jerusalem, Israel

Previous positions: Deputy Director, Hadassah University Hospital, Ein-Kerem (2014-2018). Deputy C.E.O & Medical Director, Barzilai Medical Center (2012-2014). Head, Oncology Inpatient Ward, Sharett Institute of Oncology, Hadassah University Hospital – Ein Kerem (2010-2012). Head, Medical Audit Department, Israel Ministry of Health (2008-2010). Head, Outpatient Clinic, Sharrett Institute of Oncology, Hadassah    University Medical Center – Ein Kerem (2005-2008).

 EDUCATION: Masters (MA) in health administration, Ben-Gurion University, Israel Summa cum laude; Clinical research fellowship in Clinical Oncology & Cancer Genetics, The Royal Marsden NHS Trust & Institute of Cancer Research, London, UK; Residency in Oncology, Hadassah University Hospital, Jerusalem; Ph.D. studies in molecular biology, Department of Biological Chemistry, Institute of Life Sciences, The Hebrew University of Jerusalem. Ph.D Thesis: Genetic engineering approaches into cholinesterase interactions with xenobiotic agents, supervised by Prof. Hermona Soreq; Research on “Multileveled aspects of opiate interaction with the cholinergic system” instructed by Prof. Konrad Loeffelhotz, a short-term fellowship at The Institute of Pharmacology Medical School, University of Mainz, Germany ;FDA course of managing and controlling clinical trials organized by the Israel Ministry of Health, Netanya, Israel; Research fellowship in Nuclear Medicine joint program, Harvard University Medical School, Boston, MA, USA. Research subject: Comparative study between tri-dimensions nuclear heart mapping and other simulation systems, instructed by Prof. Gerald Koladoni; Internship at Shaarei Zedek Medical Center; Medical Studies, Faculty of Medicine, The Technion, Israel Institute of Technology, Haifa. MD Thesis: Inhibition of human cholinesterases by derivatives of Diacetylmorphine (heroine): medical, biochemical and molecular implications. The thesis won the Faculty’s Excellency honor; B.Sc. Medical Sciences.

Domenica Taruscio, M.D., is the Director of the National Centre for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità) in Rome, Italy. Her studies are directed on congenital anomalies and rare diseases: from primary and secondary prevention to diagnosis, from quality assurance of genetic tests to epidemiologic studies through the National Register, from education of health care providers, to information to citizens and empowerment of patients and improvement of their quality of life. She participates as coordinator or partner to several projects funded by the European Commission (EC), e.g. EPIRARE, EUROPLAN, European Joint Programme on Rare Diseases. Member of National, European and International committees, including the Committe for the II National Plan for Rare Diseases, the National Coordination Centre for Newborn Screening, the International Rare Diseases Research Consortium (IRDiRC); co-founder of the Undiagnosed Diseases Network International. Member of the: Committee for Orphan Medicinal Products (COMP) at the European Medicines Agency (EMA) (2001-2009); EC Task Force for Rare Diseases (2004-2008); European Union Committee of Experts on Rare Diseases (EUCERD) (2010-2013); EC Expert Group on Rare Diseases (2014-2018). Past-President of ICORD (2010). Since 2019 she represents Italy at the EC Board of Member States for the European Reference Networks. Co-author of more then 165 publications.

Mats Hansson is Professor of Biomedical Ethics and Director of The Centre for Research Ethics & Bioethics (CRB) at Uppsala University. The Centre is a multi- disciplinary unit awarded for international excellence with long experience of managing large international projects, currently leading research on risk conceptualisation and communication, health preference research and data sharing. This 30- person team of reseachers is combined with social scientists, psychologists and risk communication experts as well as ethicists for assessment of individual preferences and public health needs and front line research in different disease areas. Philosophers, medical doctors, nurses and lawyers are also part of the team. 

Professor Dian Donnai CBE, FMedSci, FRCP, FRCOG. Manchester Centre for Genomic Medicine and University of Manchester and Manchester University NHS Foundation Trust. 

Dian Donnai trained in paediatrics and clinical genetics and has a major interest in developmental disorders. She was head of the MCGM and is now Strategic Clinical Director of the hospital. She founded an international network through the Manchester Dysmorphology Conference series; a focus for many research collaborations. Her awards include Lifetime Achievement Award; March of Dimes, the ESHG Education Award, and the ASHG Award for Excellence in Human Genetics Education (2017). She has been closely involved with genetic service development including a term as consultant advisor to the CMO (1998-2004). She was appointed CBE in the New Year Honours (2005) and elected to the Academy of Medical Sciences (2001). She is past president of the Clinical Genetics Society and the European Society for Human Genetics.

Dr. Beaudet received his M.D. from Yale, did pediatric residency at Johns Hopkins, and was a research associate at the NIH before joining Baylor College of Medicine (BCM) in 1971 where he has remained to the present.  Beaudet has made diverse contributions in the field of mammalian genetics including discovery of uniparental disomy in humans, identifying the Angelman syndrome gene, and publishing over 300 original research articles. Beaudet is a well-known editor of the Metabolic and Molecular Bases of Inherited Disease textbook for the 6th through 8th editions; he has served on many editorial boards and national review panels. He was President of the American Society of Human Genetics in 1998 and was elected to the National Academy of Medicine in 1995 and to the National Academy of Sciences in 2011.  Beaudet is currently the Henry and Emma Meyer Distinguished Service Professor in the Department of Molecular and Human Genetics at BCM and Texas Children’s Hospital in Houston.

Arnold Munnich is the co-founder and current president of the Imagine Foundation. 

He is Professor of Genetics since 1989, Director of the Department of Genetics at Hospital Necker, University Paris-Descartes. He studied medicine in Paris and received the degree of Doctor of Medicine in 1979, a PhD in Biochemistry in 1988, his certification in Paediatrics and in medical genetics in 1983.

His main research interests are Genetics and Epigenetics of Neurometabolic Diseases and Birth Defects. He is the author or co-author of more than 900 publications in peer-reviewed journals since 1980. He is a member of the editorial board of the Journal of Medical Genetics, European Journal of Human Genetics, Human Genetics, Human Mutation and Clinical Genetics. 

He served as Scientific and medical advisor of the President of the French Republic, Nicolas Sarkozy between 2007 and 2012. He is a member of the American Society of Human Genetics, European Society of Human Genetics and of the French National Academy of Science.

He was awarded the Grand Prix Inserm in 2000, the European Society of Human Genetics award in 2008 and the Claude Bernard award of the Ville de Paris in 2013.

 Prof. Varda Shalev, MD MPH, is the head of the Morris Kahn and Maccabi Research & Innovation Institute , and a faculty member at the Tel-Aviv University School of Public Health (TAU SPH). Side by side to here senior level roles, Prof. Shalev is an active primary care physician in Maccabi Healthcare Services (MHS) sick fund.

With an MD degree from Ben-Gurion University Medical School, she completed her residency in family medicine and earned an MPA in Health Public Administration at Clark University. After a two-year fellowship in medical informatics at the Johns Hopkins University Hospital, Prof. Shalev established the Medical Informatics Department at Maccabi and was responsible for planning and developing its computerized systems encompassing data from two million members and 9000 care provides. She has pioneered the development of multiple disease registries to support chronic disease management. Prior to her current position, Prof. Shalev has served as the director of Primary Care Division at MHS and implemented several structural reforms in the provision of care.

Prof. Shalev's research interests are epidemiology, medical informatics and predictive analytics. She is a member of the European Health Telematics Association and the American Medical Informatics Association. Prof. Shalev teaches regularly at the TAU SPH graduate school in the areas of big-data and medical informatics. She has authored or co-authored over 200 publications in peer-reviewed journals.

 Joan X. Comella received his PhD in Medicine at the University of Barcelona in 1989. After post-doctoral training at the Cellular and Molecular Biology Institute of the CNRS in Gif sur Yvette (France), he was appointed as Associate Professor at Faculty of Medicine (University of Lleida-UdL) in 1990, and Full Professor in 2002. Since April 2007 he is Full Professor at the Institute of Neuroscience of the UAB. He has been Visiting Professor at the INSERM (Marseille and Villejuif) and EMBL (Germany). At present he is the Director of Vall d’Hebron Institute of research (VHIR), with full competences on the biomedical research done at the Vall d’Hebron Hospital, one of the top hospitals in Spain.

He has performed some science policy managerial tasks: Vice-president for Research at the UdL (1995-2000), Director of the ANEP (2004-2005), General Director of FCYT (2005-2006), General Director of the FCRI (2007-2009), and Director of the Neurosciences Institute at UAB (2007-2009). He was elected as General Secretary of the COSCE. In March 2012 he has been elected External Advisor to the National Agency of Research (AEI of MINECO). He was also President of the Spanish Board of Directors of EATRIS (2012-2014). To support his management skills, in 2011 he has attended the “Health Management Executive Program” at IESE Business School in Madrid.

In addition, he has been a consultant and evaluator of the European Commission in the Framework Program V, consultant and appraiser of national (ANEP, FIS, CICYT) or regional (DURSI) funding agencies, evaluator of the National Research Program of Argentina and France, evaluator of more than 15 international scientific journals, organizer (chair) of national (Spanish Society of Neuroscience, Lleida 2003) or international (Juan March Symposium, 1996) congresses. He has served as a consultant in the implementation group of medical studies at the University of Girona and the external scientific committee of the Research Institute of Santiago de Compostela (formed by the University and the University Hospital of Santiago). Since 2011 he has been a member of the Organizing Committee of Expoquimia and member of the Scientific Committee of MIHealth.

He has lead more than 25 research projects financed by national and international agencies. He has served as External Advisory Expert of the European Union on “ageing population” program (1999-2002) and member of the Ad Hoc High Level Expert Group for Chronic and Degenerative Diseases, Genomics and Neurosciences of the European Commission (1999-2002). He has received several awards including “outstanding young scientist” of the Regional Government of Catalonia (2001) and the National Prize of Basic Medical Sciences of the Pfizer Foundation (2005).

He has supervised 19 doctoral theses and co-authored over 100 publications in international journals, mainly from first quartil. He leads the “Cell Signaling and Apoptosis” group since 1990. The group (a synergy UdL-UAB-VHIR) is currently composed of 20 full time scientists working on the molecular mechanisms that control cell survival and cell death in the nervous and cardiovascular system. The group is member of the CIBERNED network. The major interest of the group is the study of death receptors and their functional antagonists (FAIM, Lifeguard and FLIP) and their relationship to neurodegenerative diseases, particularly chronic diseases (Alzheimer), or in different models of cancer (notably neuroblastoma).

Daria Julkowska has over 15 years of experience in research and management. She is the assistant director of the Thematic Institute of Genetics, genomics & Bioinformatics, Inserm, France and the Coordinator of the European Joint Programme on Rare Diseases that brings together different type of stakeholders (researchers, funders, clinicians & patients) from 35 countries from Europe and beyond, and also serves as Chair of the Funders Constituent Committee of IRDiRC. This position allows her to implement the strategic rare disease research and funding recommendations of IRDiRC to the development of EJP RD which includes the participation of the European Research networks. She is involved in the rare diseases field since 2010, starting from E-Rare, the ERA-Net for Research programmes on rare diseases, where for the first two years she occupied the position of the project manager to finally (April 2013-December 2018) take over the coordination of the programme. As the coordinator, she developed and put into action a set of collaborations facilitating rare diseases research, including the partnerships with European Research Infrastructures and Patients’ Organizations. She has an extensive knowledge and understanding of European funding schemes and programmes. 

Dr. Julkowska obtained her international PhD in molecular biology at the University of Paris XI, France and University of Gdansk, Poland in 2005. She pursued her scientific vocation by the post-doctoral experience in cellular biology, at Institut Pasteur, Paris and extensive training in communication and European Union counselling. She also holds MSc in Management of Research from the University of Paris Dauphine.

Dr. Argov is Professor ( Emeritus) of Neurology at the Hadassah-Hebrew University School of Medicine in Jerusalem, Israel and an Adjunct Professor at the Department of Neurology/Neurosurgery at the Montreal Neurological Institute, Montreal, Canada. He also serves as a Member of the Neuromuscular Panel at the European Academy of Neurology and an Honorary member of this organization.

Prof  Argov graduated from the Hebrew University- Hadassah Medical School and finished his training in Neurology at the same Institute. He had two fellowships: A WHO Neuromuscular Fellowship at the Muscular Dystrophy Laboratory  in Newcastle upon Tyne (UK) and MDA Fellowship in Biochemistry and Biophysics Laboratory of the University of Pennsylvania, Philadelphia (USA).

Prof Argov was a President of the European Neurological Society (ENS) and Chairman of its Muscle and Neuromuscular Disorders subcommittee. He was also a member of the Executive committee of the World Muscle Society and the ENS.

Prof Argov was a Chief Medical Officer and later a Special Medical Advisor to the CEO of BioBlast Pharma and an Ad Hoc consultant of Ultragenyx Pharmaceutical .

His main research and academic fields of interests are: GNE myopathy, clusters of hereditary neuromuscular disorders, iatrogenic neuromuscular disorders and metabolic myopathies.

Shomrat Shurtz serves as the Chairwoman of the Israeli Gaucher Association.

Shomrat is the Senior Director- Business Development, at the Israeli Innovation Authority (IIA). She brings over 25 years of experience in business strategy, marketing and regulatory affairs.

Prior to joining IIA, Shomrat served as an Executive in several organizations at the Israeli Biopharmaceutical &Medical device field, and earlier as an executive at the financial arena.

Shomrat holds an M.Sc. degree in Physiology, and B.Sc. in Biology – both from the Tel Aviv University.

Dr. Hagit Baris Feldman, M.D., is the Director of the Genetics Institute at Tel Aviv Sourasky Medical Center (TLVMC), The Chair of the Israel Society of Medical Genetics. Dr. Baris Feldman has established the Genomic Center and the Gaucher Disease Center at TLVMC.

Dr. Hagit Baris Feldman graduated from the Sackler Faculy of Medicine, Tel Aviv University, complete her residency in Pediatrics from Sapir Medical Center and completed with honors her Medical Genetics residency from Harvard Medical School – Genetics Training Program.

Dr. Baris Feldman main research interest is in studying the genetic basis of human Mendelian syndromes using next generation technologies, coupled with functional analyses to uncover novel disease pathways.  Dr. Baris is the author of numerous scientific papers in leading journals in clinical and molecular genetics. Novel human disease-causing genes identification through clinical and research projects she led, paved the way to tailored medical treatment for patients. These discoveries promoted the birth of healthy children in families with rare genetic disorders through prenatal and preimplantation genetic diagnosis. For the continued implementation of personalized medicine and disease prevention.

Han Brunner is  full professor and head of the department of Human Genetics at Nijmegen University Hospital, and  at Maastricht University Medical Center, in the  Netherlands.

Han Brunner discovered a large number of disease genes, by applying cutting- technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to understand genetic diseases. Much of his work is on neurodevelopmental conditions such as intellectual disability and abnormal behaviour. His work has established  that in non-consanguineous populations, the  major cause of intellectual disability lies in spontaneous new mutations. The work of his group has further shown that in tertiary pediatric neurology practice, the exome-first approach is cost-effective and yields superior diagnostic yield to conventional clinician-driven examination.

He served as board member of the Dutch, European (president in 2014-2015), and American Societies of Human Genetics. He is an elected member of the Royal Netherlands Academy of Arts and Sciences, and the Academia Europea.

For 20 years, Dr. Haffner served as Director of the Office of Orphan Products Development of the FDA. As Director she was responsible for the leadership and management of the FDA orphan products development program, the first Orphan Products program in the world.  In addition, she was instrumental in the development of Orphan Drug programs in the EU, Japan, Australia and beyond.  She is well known as an expert in orphan drug development.

A sought after speaker and consultant, Dr. Haffner  has received many awards for her work in drug development including The Outstanding Contributions to Pharmaceutical Medicine Award from the American Academy of Pharmaceutical Physicians, and  the Woodrow Wilson Award for Outstanding Government Service from the Johns Hopkins University.  In 2014 Marlene received the Lifetime Achievement Award from EURORDIS.  A founding member of ICORD, from 2006 – 2016 she served as a member of ICORD’s Board of  Directors.  She is the author of multiple articles in peer reviewed literature concerning issues of orphan product development.

Eli Sprecher received his MD and PhD degrees from the Hebrew University of Jerusalem and specialized in dermatology at the Rambam Medical Center, Haifa. He spent a post-doctoral fellowship at Thomas Jefferson University, Philadelphia and served as attending physician at the Rambam Medical Center until 2008. During this period, he was Deputy Director for Academic affairs at the Rappaport Institute for Research at the Technion, and founded as well as directed the Center for Translational Genetics at the same institution. He became Chair of the Department of Dermatology at the Tel Aviv Medical center in 2008, Professor of Dermatology at the Sackler Faculty of Medicine, Tel Aviv University in 2010 where he received the Frederick Reiss chair of Dermatology in 2014. He also serves as Deputy Director General for Research and Development at the Tel Aviv medical center. He has co-authored over 280 scientific publications, has mentored over 40 students and has received numerous national and international prizes and honors. His research focuses on the genetic basis of skin diseases. His group aims at understanding the molecular genetics of both simple and complex traits, deciphering their pathogenesis and then attempting at translating this new knowledge into innovative therapeutic tools.

Liesbeth Siderius, pediatrician aspires to optimize care for children with rare and disabling conditions. Trained in pediatrics and genetics she has experience of working in hospital (secondary) pediatrics, clinical (academic) genetics and preventive (primary) child health care in the Netherlands.

She has been a volunteer for patient organizations working with and for them. Acknowledging the mere existence of patient organization and their importance needs permanent advocacy.

With the establishment of a rare disease working group of the European Academy of Pediatrics the importance of rare conditions in pediatrics was endorsed. Thanks to collaborations, networks, presentations as congresses, membership of European Expert Commission on rare disease, a broad view on child health care in Europe and beyond has been developed. 

Today, digital tools can be provided to empower people to look after their health, stimulate prevention and enable communication with healthcare providers. Experience within the advanced Dutch digital network might help to develop a global interoperable child health network that leaves no one behind.

MD Sackler School of Medicine, Tel-Aviv University. PhD Weizmann Institute of Science, Rehovot. Board Certified in Pediatrics, Hematology and Pediatric Hematology-Oncology. Full Professor of Hematology, Sackler School of Medicine, Tel-Aviv University. Established (and headed until 2001) the Pediatric Hematology, Oncology and Bone Marrow Transplantation Department, Sheba Medical Center. Published more than 330 scientific papers.

Barbara Wuebbels serves Chairman and co-founder of the Professional Patient Advocates in the Life Sciences organization.  She has 20 years of experience working with patients, patient organizations and clinicians in the rare disease community. From October 2013 until January, 2018, Barbara served as Vice President of Patient Advocacy for Audentes Therapeutics. Prior to joining Audentes, she spent 6 years at BioMarin Pharmaceutical Inc. where she held positions of increasing responsibility in patient advocacy and medical affairs. This work included the creation of a global patient advocacy and investigator relations department. Through this new department, she linked the critical perspectives of patient advocates with the internal planning of clinical and commercial activities. Since leaving Audentes she has established her own consulting business focused on patient advocacy development for pharmaceutical companies. Barbara currently serves on the board of the Battens Disease Support and Research Association. Barbara earned a Master’s degree in Adult Health Nursing from Arizona State University, and a Bachelor of Science degree in Nursing from St. Louis University.

Luis Alejandro Barrera has a Bachelor of Science in Biology and Chemistry, a Master degree in clinical biochemistry from the State University of New York at Buffalo NY and  a Ph.D. in Biochemistry of University of Miami. He has been founder of two centers working in Inborn Errors of Metabolism in Colombia, The Center for Biochemical Research in Los Andes University and the Institute for the Study of Inborn Errors of Metabolism in Javeriana University.  He has also been founder of The Clinic of Inborn Errors of Metabolism in San Ignacio Hospital Characterized as a permanent advocate in favor of the patient´s needs, proponent and defender of the Law in favor of rare diseases, founder of two patient organizations. He has been one of the front leaders in research and diagnoses of IEM  in Colombia, his main interests in research has been the diagnoses, epidemiology and Molecular characterization of IEM in Colombia, the construction of adeno associated  vectors for gene therapy assays  of lysosomal diseases, the expression of recombinant enzymes in yeast and  bacteria to be used in Enzyme Replacement Therapies. He has been twice President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening. 

Prof. Lina Basel-Salmon is a specialist in Pediatrics and Medical Genetics. She currently serves as Director of the Raphael Recanati Institute of Genetics at the Rabin Medical Center and Schneider Children’s Medical Center of Israel. She holds a position as a Full Professor degree at the Tel Aviv University. Prof. Basel-Salmon is a winner of Outstanding Lecturer award of the University. Her clinical and research interests within medical genetics are broad and include identification of new diseases and new gene-disease associations, preventive genetic screening in the Israeli population and use of artificial intelligence in genomic variant interpretation. Prof. Lina Basel-Salmon has published more that 120 research articles in leading international journals. In the past she has served as the Chair of the Israeli Society of Medical Genetics. Recently Prof. Basel Salmon has been elected as a Board Member of European Society of Human Genetics.

Dr. Simon has spent 30 years working in clinical trials, mostly in the pharmaceutical industry but also including five years at the UK and European regulatory agencies.  He now works as a statistical and regulatory consultant to pharmaceutical and biotechnology companies around the world.  He specialises in training and consulting on drug development programmes.  He is particularly well known for his work in the area of developing treatments for rare diseases.

He is a former president of the International Society for Clinical Biostatistics.  He is joint editor of Statistics in Medicine, on the editorial board of Translational Sciences of Rare Diseases, and previously joint editor of the Journal of the Royal Statistical Society; he has also served on editorial boards on a number of other journals, including Pharmaceutical Statistics, Controlled Clinical Trials and British Journal of Clinical Pharmacology.  In 2012 he was elected a Fellow of the Society for Clinical Trials.

He has published widely in statistical and medical journals, is author of one book “Dictionary for Clinical Trials” and is joint editor of the “Textbook of Clinical Trials”, both published by Wiley.

Gili Kenet is a Pediatric Hematologist, Professor and Chair of the Hematology Department at the Sackler Medical School, Tel Aviv University. Professor Kenet received her Medical Degree from the Hebrew University in Jerusalem.  Her research projects have been focused on neonatal hemostasis, childhood stroke and pediatric thrombophilia, as well as the research of new therapy modes applied for people with hemophilia and severe bleeding disorders.  She was awarded national grants for pediatric hematology and cancer research, study of rFVIIa mode of action, epidemiology of inhibitor evolution in hemophilia and for personalized tailoring of bypass agent therapy, and applying global hemostasis assays. Professor Kenet is the author of over 200 peer reviewed scientific publications, review articles and book chapters.  An active member of the World Federation of Hemophilia, Israeli Society of Pediatric Hematology and Oncology, and the American Society of Hematology, an active reviewer for high impact thrombosis journals and an editorial board member of the Haemophilia Journal.  Former Chairperson of the Israeli Society of Thrombosis and Hemostasis and Chairperson of the Pediatric and Peri-natal Hemostasis Scientific Subcommittee of ISTH.  Currently co-chairs the FVIII/FIX and rare bleeding disorders of the SSC of ISTH.

Joff Masukawa is president and founder of Diligentia, LLC, a lifesciences consultancy that develops commercial business strategies and tactical commercialization requirements for manufacturers of rare orphan and specialty drugs, cell and gene therapies, and other novel emerging medical innovations. Serving as a virtual chief commercial officer supporting new product planning for clients, Joff can lead strategy implementation for small organizations. Diligentia also offers government and public affairs services to support client business objectives. Prior to founding Diligentia, Joff was Vice President and Global Head of Government Relations and Public Affairs at Shire, where he designed and led strategies to build the company’s brand, engagement and leadership with government representatives and agencies, patient advocacy groups, payors, industry associations and other key external stakeholders. Joff has held senior level leadership roles spanning commercial and corporate functions, including market access, government and public affairs, patient and provider services, and sales and marketing at Shire, Genzyme, Visible Genetics, Gentiva and Labcorp. He has developed and executed numerous launch strategies for first-in-class products and is an expert at developing and aligning optimal legislative, regulatory and market access solutions to support business objectives. He began as a clinical sales representative for Merck.

He serves on the board of directors of Caregiver Action Network, The Center for Healthcare Innovation, and ICORD, the International Conference on Rare Diseases and Orphan Drugs. He holds a BA in international studies from Johns Hopkins University and completed his graduate studies in international affairs at the Johns Hopkins School of International Studies and in strategic communications at Columbia University.

Prof. Orly Elpeleg is the Director of the Department of Genetics at the Hadassah Medical Center in Jerusalem. She is a Professor of Pediatrics in the Faculty of Medicine, Hebrew University, Jerusalem, in the same place where she obtained her M.D. degree. Prof. Elpeleg completed a Pediatric residency in Jerusalem, followed by a research fellowship at the Royal Hospital in Copenhagen, Denmark. She had spent her sabbaticals at the Genetic and Neurology Departments of the Institute of Child Health and Great Ormond St. Children Hospital in London, UK.

Prof. Elpeleg focuses on establishing proper diagnosis to children affected by developmental disorders. Her research is aimed at the identification of the genetic basis of monogenic disorders, using advanced technologies. The introduction of next generation sequencing enabled Prof. Elpeleg and her team to identify over 100 new disease causing genes, to delineate their phenotypic and molecular spectrum and to dissect disease mechanisms.

Yann Le Cam is a patient advocate who has dedicated over 30 years of professional and personal commitment to health and medical research NGOs in France, Europe and the United States in the fields of cancer, HIV/AIDS and rare diseases. He holds an MBA from HEC Paris. He has three daughters, the eldest of whom is living with cystic fibrosis. He was one of the founders of EURORDIS-Rare Diseases Europe in 1997 and has been the organisation’s Chief Executive Officer since 2000. Yann initiated Rare Diseases International (RDI) in 2009, for which he is an elected member of the Council and Chair of the RDI Advocacy Committee. He was a founding member of the NGO Committee for Rare Diseases(United Nations, New York) in 2014 and is a member of its Executive Committee. He is a member and immediate past chair (2013-2017) of the Therapies Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC). Yann was a frontline advocate for the adoption of European regulations that impact the lives of rare disease patients, including the EU regulations on orphan medicinal products (1999), paediatric use of medicines (2006), and advanced therapies (2007). Yann promoted the Commission Communication on Rare Diseases (2008), the Council Recommendation on Actions on Rare Diseases (2009) and the Directive on Cross-Border HealthCare (2011). He was vice chairman of the EU Committee of Experts on Rare Diseases (EUCERD) from 2011 to July 2013 and was a member of the former Commission Expert Group on Rare Diseases (2013-2016). From 2016 - June 2019, Yann Le Cam served as a member of the Management Board of the European Medicines Agency (EMA). He was also one of the first patient representatives appointed to a committee at a medicines regulatory agency when he was appointed to the Committee for Orphan Medicinal Products (COMP) at the EMA, where he served for 9 years and was its elected vice-chair for 6 years. He also served on the Management Board and Executive Committee of the French HTA agency for 5 years.

Nominated as one of the member of National policy advisory committee for Rare disease, government of India. Chairman of State Technical Committee for treatment of Rare diseases for Rajasthan.
Chairperson Rare disease taskforce Asia pacific pediatric society.
Member of Many Advisory Boards including Orgnisation for Rare Disease India Patient group.
Executive director of international neonatology associations (Geneva).

Catarina Edfjäll has over 25 years of experience in the pharmaceutical industry. Working in various regional and global Regulatory Affairs leadership roles at a number of small, midsize and large biotech companies, including CSL Behring and Roche, Catarina has been responsible for obtaining multiple designations and new regulatory approvals for orphan drugs in over 40 countries worldwide. Catarina holds a master’s degree in biotechnology engineering and a Ph.D. from the University of Basel, Switzerland.

Since many years, Catarina is driven by a strong interest in bringing new treatments to patients with rare and life-threatening diseases. Over the past 15 years she has been involved in several multi-stakeholder organizations with a focus on rare diseases and orphan drugs and was an industry representative on EMA’s COMP Working Group with Interested Parties for its entire duration (2001-2008).

Catarina has been a board member of ICORD since 2008 and 2014-2018 she was also the treasurer of the ICORD board. Throughout the years she has been an active member, session chair and speaker at several conferences since ICORD’s inception. Catarina believes ICORD is a critical global multi-stakeholder organization that raises awareness for rare diseases and stimulates important debates on orphan drug policies at its annual conference.

David Pearce is President of Innovation and Research for Sanford Health.  He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986.  He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK.
Dr. Pearce heads the leading lab in Juvenile Batten disease research.  He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997.  His research has led to the first clinical trial for Juvenile Batten disease.  He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS).   He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and is currently the vice chair of the consortium assembly for the International Rare Diseases Research Consortium (IRDiRC). 

As President of Innovation and Research at Sanford, he oversees the development of research programs, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials. 

Dr. Rivka Sukenik Halevy is specialist in OB-GYN and medical Genetics. Completed a Research Fellowship in UCSF, USA (Department of Bioengineering and Therapeutic Sciences). Head of the Prenatal Genetics service, Raphael Recanati Genetic Institute, Rabin Medical Center. Senior Lecturer,  Sackler Faculty of Medicine, Tel Aviv University. Secretary of the Israeli Society of Medical Genetics.

Medical Doctor, Universidad Autónoma de Madrid (1980) and Master in Business Administration, INSEAD, Fontainebleau (1992).

Past positions: VP of International Government Affairs at Genzyme Corp, (since 2011, part of Sanofi). Chairman of Genzyme Spain and of Fundación Genzyme, a Spanish non-for-profit entity aimed at supporting and improving, through various philanthropic & CSR activities, the scientific and medical knowledge, diagnosis and treatment of rare and other severe diseases (2008-2016), Managing Director of Genzyme Spain (1993-2008). Various management positions –in the fields of clinical pharmacology, international marketing, strategic planning and business development– in several pharmaceutical multinationals: Boots, Boehringer Ingelheim, Grünenthal and Baxter (1982-1993). Physician, Spanish National Healthcare System (INSALUD) (1980-1982).

Other affiliations: ICORD: Board member (2014-present), Treasurer (2016-present). Spanish Biotechnology Association (ASEBIO): Founding member; Chairman (2001-2005), Board member (1999-2014). EUROPABIO: member of the Management Board, as well as of its Healthcare and National Associations Committees (2007-2014).

Dr. Tifft received her MD and PhD from the University of Texas Health Science Center and Graduate School of Biomedical Sciences at Houston. She completed pediatric residency training at Johns Hopkins Hospital in 1986, and clinical genetics fellowship in the Inter-Institute Medical Genetics Training Program at the National Institutes of Health in 1990.  Following fellowship, she joined the faculty at Children’s National Medical Center and became Chair of the Division of Genetics and Metabolism in 1996.  For over 15 years she coordinated the lysosomal diseases program and directed multidisciplinary clinics for children with neurofibromatosis and skeletal dysplasias and co-directed the Children’s Craniofacial Clinic. 

In 2009 she was recruited to the National Human Genome Research Institute at NIH to become Deputy Clinical Director and to head the Pediatric NIH Undiagnosed Diseases Program. The UDP expanded to 12 additional sites in in the USA in 2013 to become the Undiagnosed Disease Network of 12 additional sites Dr. Tifft co-chaired the UDN Steering Committee from 2016 to 2019. Over the past 10 years, the NIH UDP has evaluated over 1200 patients (400 children); providing diagnoses to many and recommendations for management and supportive care to all.  Dr. Tifft’s research interests for many years have included the natural history and pathogenesis of lysosomal storage disorders affecting the central nervous system, particularly Tay-Sachs and Sandhoff diseases, and GM1 gangliosidosis.  In May of this year she initiated a “first-in-human” phase 1/2 gene therapy trial for juveniles with GM1 gangliosidosis.

B.Sc., M.D Degree, Technion- Israel Institute of Technology , Haifa , Israel. Residency - Dept. of Obstetrics & Gynecology, Rambam Medical Center, Haifa Israel. Lecturer in preparatory course of newly immigrant OB&GYN doctors. Committee member of the Israeli Women Health Organization and member of Maccabi HMO Organization. 1999-2007 Head of the Israeli Familial Dysautonomia Organization. 2007 and on - Volunteer at the Israeli Familial Dysautonomia Organization.

Prof. Daniel Scherman is an Exceptional Research Director at the CNRS. He is Doctor of State and a former student of the Polytechnical School. Daniel Scherman was awarded the Great Prize of the « Emilia Valori » Sciences Academy for the application of chimical and biological sciences in November 2017. He is a member of the European Academy of Sciecnes EURASC. Manager of the Medicine and Life sciences unit. Danier Scherman was also awarded of the following prizes: Experimental Uveitis Research Award – Deutsche Uveitis Arbeitsgemeinschaft ; Palmes Académiques ; Lauréat du Grand Prix de l’Académie Nationale de Médecine ; Médaille d’argent du CNRS ; Prix de la Recherche du groupe Rhône-Poulenc ; Prix de Neurobiologie de la Fondation pour la Recherche Médicale ; Prix de l’Institut de Biologie Physico-Chimique.Daniel Scherman scientif works are translated by 450 published articles, of which 350 were published in peer-reviewed journals, 63 books or participations to these books, 42 patent families, 115 invited conference with internation congress. This is translated in the Web of Sciences by an h-index impact factor : 60 and by 14500 quotations.

Lucia Monaco is the current Consortium Assembly Chair of the International Rare Diseases Research Consortium (IRDiRC), where she represents Fondazione Telethon, the Italian charity committed to rare genetic diseases research. She is the head of Research Impact and Strategic Analysis and former Chief Scientific Officer of Fondazione Telethon in Milan, Italy. She previously worked as a researcher at the San Raffaele Scientific Institute in Milan and earlier she was senior researcher in the Molecular Biology Laboratory of Farmitalia Carlo Erba in Milan, Italy. She graduated in chemistry at the University of Pavia, Italy and received her training in biochemistry at the University of Iowa in Iowa City, USA and in molecular biology at the European Molecular Biology Laboratory in Heidelberg, Germany.

She is/has been member of several international committees and boards, among which: the Policy Board of the European Joint Program on Rare Diseases (EJP RD) and the Horizon 2020 Advisory Group for Societal Challenge 1 – Health, demographic change and well-being.

Former head physician of the maternal and child health department at southern region, Ministry of Health. Israel. (ret) Ben Gurion University (Israel) and Maimonides University (Argentina). Past Chairman, Israel Pediatric Association (1996-2000) and Ambulatory Pediatric Society (1991-1995) (2012-2016). President of the "GOSHEN" foundation (2016). President, Global Initiative for Consensus in Pediatrics (2011). ECPCP and ISSOP member and PAHO Technical advisor.