*Subject to change
Monday November 11th
09:00 – 15:30 Israeli Medical Genetic Association Meeting
11:00 – 13:00 ICORD Board Meeting
12:30 – 13:30 Lunch
14:00 – 15:30 ICORD Board Meeting
15:00 – 16:00 Registration and Refreshments
16:00 – 19:30 ICORD 2019
16:00 Opening of the conference - Dr. Hadar Yardeni, Minister of health Israel, Ministry of health CEO Israel & Prof. Manuel Posada, President of ICORD
16:30 - 18:00 Panel with health policy makers
Session Chair: Dr. Emilio Roldan, Div Innovation, Gador SA, Argentina
Mrs. Vova Valentiina Victorovna, Chairman, Commission for the Protection of Citizens Health and Health Development, Russia
Participants: Mr. Meir Spiegler, Director General, National insurance institute of Israel
Mrs. Lucia Monaco, IRDiRC Chair, Italy
Mr. David Pearce, Sanford Research USA and IRDIRD Vice, USA
Dr. Daria Julkowska, Coordinator, Assistant director of The Institute of Genetics, Genomics & Bioinformatics, INSERM, France
Mr. Makoto Suematsu, Director, AMED, Japan
Prof. Daniel Scherman, President, The French Rare Diseases Foundation, France
Dr. Skvortsova Veronika Igorevna, Director, General Minister of Health, Russia
Mr. Christopher Austin, Director, NIH/NCATS
18:00 - 19:30 Panel with families and patients
Session Chair: Mrs. Barbara Wuebbels, Chairman, Professional Patient Advocates in the Life Sciences, USA
Mr. Manuel Katz, Patient safety, Meuhedet Health Services, Israel
Participants: Dr. Einat Makler-Shiran, Private clinic and freelancer for HMO and IDF, Israel
Mrs. Shomrat Shurtz, chairwoman, The Israeli Gaucher association, Sr. Director Business Development, Israel
Mrs. Yukiko Nishimura, President &Founder, NPO ASrid, Japan
Jayne Gershkowitz, Amicus Pharmaceuticals (patient interactions with the pharmaceutical Industry)
Mr. Yann Le Cam, Eurordis
Mrs. Virginia Llera, Geiser Foundation, Argentina
Mrs. Albina Makaeva, Genetic Russia federation
19:30 Welcome Reception
Tuesday November 12th
08:30 – 09:00 Registration and Refreshments
09:00 – 20:00 ICORD 2019
09:00 - 11:25 Prevention and rare diseases
Session Chair: Dr. Itzhaki Ziev-Ner, Rehabilitation division Ministry of health, Israel
MD, PhD, Manuel Posada, Director of Institute of Rare Diseases Research, Instituto de Salud Carlos III President of ICORD, Spain
09:00 – 09:25 Prof. Ohad Birk, Israel – "Rare diseases in inbred Bedouin and Jewish cohorts: from resarch insights to disaese prevention"
09:25 – 09:50 Prof. Annick Raas-Rothsield, Sheba-Tel Hashomer Medical Center, Israel – "Rare Disease, Israel 2019: Past, present and future"
09:50 – 10:15 Prof. Stavit Allon Shalev, Israel – "Characteristics of genetic diseases in consanguineous populations in the genomic era"
10:15 – 10:40 Prof. Arthur Beaudet, Baylor College of Medicine, Houston,TX, USA – “Single circulating trophoblast testing as a new form of noninvasive prenatal diagnosis”
10:40 – 11:05 Dr. Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy – “Primary and secondary prevention of rare diseases"
11:05 – 11:30 Coffee break
11:30 - 13:40 Diagnosis
Session chair: Ann Nordgren, Sweden
Dr. Adel Shalata, Director, Pediatrics and Medical Genetics, Simon Winter Institute for Human Genetics, The Bnei Zion Medical Center, Israel
11:35 – 12:00 Prof. Dian Donnai, Manchester Centre for Genomic Medicine & Saint Mary’s Hospital, UK – "The changing nature of diagnostics and implications for clinical services"
12:00 – 12:25 Dr. Cynthia Tifft, USA – “What’s in a Name? The Approach to Diagnosis in the NIH Undiagnosed Diseases Program"
12:25 – 12:50 Prof. Orly Elpeleg, Department of Genetics, Hadassah Medical Center, Jerusalem – "Exome and beyond in the diagnosis of rare genetic diseases"
12:50 – 13:15 Prof. Ashok Gupta, Sir Padampat Mother & Child Health Institute - SMS Medical College, India - "National Policy on rare disease in India"
13:15 – 13:40 Dr. Hagith Yonath, Israel – "Clinical and molecular diagnosis of sudden death arrhythmias- a national multidisciplinary project"
11:30 - 13:40 Families, patients and organizations
Session chair: Dr. Hadar Yardeni & ICORD
13:40 – 14:30 Lunch
14:30 - 16:10 Artificial intelligence and big data
Session chair: Joan X. Comella, CEO, Vall d´Hebron Research Institute, Barcelona, Spain
Prof. Varda Shalev, CEO, Kahn-Sagol-Maccabi Research and Innovation Institute, Israel
14:30 – 14:55 Prof. Lina Basel-Salmon Head, Institute of Genetics, Beilinson Hospital & Schneider Medical Center, Israel – "Using next-generation genomics intelligence platforms for genomic data interpretation in genetics departments: automatic performance as compared to interpretation by external laboratories"
14:55 – 15:20 Prof.Gideon Rechavi, Head of the Sheba Cancer Research Center (SCRC), Israel – "Epitranscriptomics – relevance to health and disease"
15:20 – 15:45 Prof. Han G. Brunner, Radboud UMC, Department of Human Genetics, Nijmegen & Maastricht University Medical Center, Maastricht, The Netherlands – "Meta-analysis of 30,000 patients with developmental disorders discovers new genes for ID"
15:45 – 16:10 Prof. Zhang Shuyang, Vice President of Peking Union Medical College Hospital and the Chair of NRDRS, China – "National Rare Diseases Registry System of China and Related Cohort Studies: Vision and Roadmap"
16:10 – 17:00 Poster display and Coffee break
17:00 - 18:30 Round table – Ethics in medical policy
Session chair: Dr. Yaffa Rubinstein, National Library of Medicine, NIH, USA
Dr. Orna Staretz-Chacham, Soroka Medical Center, Israel
Participants: Mr. Stephen Groft
Mrs. Hilla Alroy, journalist
Prof. Shimon Glick, Faculty of Health Sciences, Israel
Talia Agmon, Deputy Chief Legal Counsel, Ministry of Health, Israel
Prof. Avraham Steinberg
Tal Morginstin, Medical Technology Administration, Ministry of Health, Israel
18:30 - 19:30 Debates
Session chair: Mrs. Maksimkina Elena Anatolievna, Director, Department of drug supply and regulation of the circulation of medical devices of the Ministry of Health of Russia
Dr. Rivka Sukenik Halevy, Head, Prenatal Genetics service, Raphael Recanati Genetic Institute, Rabin Medical Center, Israel
Adding Genomic Information to Medical File
Prof. Han G. Brunner, Radboud UMC, Department of Human Genetics, Nijmegen & Maastricht University Medical Center, Maastricht, The Netherlands
Dr. Shay Ben Sahar, Director precision medicine and genomics, Clalit research institute, Israel
Transparency and state funding of Orphan drugs
Fernando Royo, Spain
Efrat Cohen, pharma Israel, Israel
Direct access to genetics testing
19:30 - 20:00 ICORD General Assembly
20:00 ICORD 2019 Gala Dinner
Wednesday November 13th
08:30 – 09:00 Registration and Refreshments
09:00 – 17:00 ICORD 2019
09:00 - 11:05 Treatment
Session Chair: Dr. Marlene E. Haffner, CEO of Haffner Associates, USA
Dr. Neal Elias, General Director Francis hospital Nazrath, Israel
09:00 – 09:25 Prof. Arnold Munnich, Imagine Institute for genetic diseases, Hôpital Necker Enfants Malades, Université Paris Descartes, France – "What are the benefits of progress in genetics for patients? The answer of the lay person will certainly be: Gene therapy and therapeutic cloning”
09:25 – 09:50 Prof. Gili Kenet, National Hemophilia Center and Coagulation Unit, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Israel – "Novel therapies in patients with Hemophilia"
09:50 – 10:15 Prof. Eli Sprecher, Department of Dermatology at the Tel Aviv Sourasky Medical Center, Israel – "Combing through the genetics of hair disorders"
10:15 – 10: 40 Dr. Asher Salmon – "Genotype or phenotype- rare cancers"
10:40 – 11:05 Brigitte Kochavi, RD, CR, Department of Nutrition, Pediatric Clinical Dietitian, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Israel – "Nutrition challenges in rare diseases of the adults"
11:05 – 11:35 Coffee Break
11:35 - 15:30 Rare diseases – future aspects
Session Chair: Prof. Aviv Goldbart, Head, Dept. of Pediatrics B. Soroka Medical Center, Ben Gurion University, Israel
Mrs. Yukiko Nishimura, President and Founder of NPO ASrid, Japan
11:35 – 12:00 Dr. Emilio Roldan, Div Innovation, Gador SA, Buenos Aires, Argentina – "model to develop orphan drugs at fair prices"
12:00 – 12:25 Prof. Mats Hansson, Centre for Research Ethics & Bioethics, Uppsala University, Sweden – Sweden -"How should incidental findings in biobank research and genome sequencing studies be handled?"
12:25 – 12:50 Dr. Hagit Baris Feldman, Director of the Genetics Institute Tel Aviv Sourasky Medical Center and Chair of the Israeli Society of Medical Geneticists, Israel – "From genetics to care – Genetics based tailored treatment"
12:50 – 13:15 Dr. Liesbeth J. Siderius, GGD IJsselland, The Netherlands – "Sustainable Development Goals, Universal Health Coverage and the Disabled Child"
13:15-14:00 Lunch Break
14:00 – 14:25 Prof. Luis Alejandro Barrera, Clinic On Inborn Errors of Metabolism, San Ignacio Hospital, Bogotá, Colombia – “Gene therapy has arrived to the Clinic. Are we prepared to make good use of it? “
14:25 – 14:50 Prof. Argov Zohar, Prof (Emeritus) of Neurology, Hadassah-Hebrew University Medical School, Jerusalem – "Modern therapeutic approaches to hereditary myopathies"
14:50 – 15:15 Dr. Simon Day, Clinical Trials Consulting & Training Limited, UK – "Meeting Regulatory Review and Clinical Trial Design Requirements for Rare Diseases and Orphan Products"
15:15 - 15:30 Prof. Oleg Kvlividze - ICORD 2020 GEORGIA
15:30 - 15:45 Chosen Posters – presentations
Co-Chair: Dr. Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
Mrs. Maja Stojilkovic, Serbia
15:45 - 16:30 Professor Ada E. Yonath: Nobel Prize in Chemistry, Israel - "From Basic Science to Medicine"
16:30 - 16:45 ICORD 2019 Closing Remarks - Dr. Hadar Yardeni, Head, Department for child development and rehabilitee Ministry of health office, Israel & Sreve Groft, NIH NCATS, USA