Preliminary Scientific Program

*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 
Sessions on:
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
Sessions on:


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

Yaniv Erlich


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
Sessions on:


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 KvlividzeICORD 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