08:35-08:40 Dr. Hagit Baris Feldman, Director of the Genetics Institute Tel Aviv Sourasky Medical Center and Chair of the Israeli Society of Medical Geneticists, Israel

08:40-08:45 Dr. Amihood Singer, Head of the community genetics department, Ministry of health, Israel

Session Chair:

• Prof. Eitan Friedman, Director of the Suzanne Levy-Gertner Oncogenetics Unit, Sheba Medical Center, Israel
• Dr. Chana Vinkler, Genetics Institute, Wolfson Medical Center, Holon, Israel

• 08:45-09:00 Dr. Yael Goldberg, Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel – "The pendulum of mismatch repair deficiency (MMRd) - from a rare disease to a common undiagnosed condition – new insight and implications for the Israeli population"
• 09:00-09:15 Gili Reznick Levi, The Genetics Institute, Rambam Health Care Campus, Haifa, Israel – " MUTYH Associated Polyposis in the Non-Jewish Population in Northern Israel"
• 09:15- 09:30 Shiri Shkedi-Rafid, Genetics and Metabolic Diseases, Hadassah Medical Center, Israel – "Recontacting former breast cancer patients for updated genetic testing"
• 09:30-09:45 Sari Lieberman, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel – "Breast cancer in BRCA carriers: effect of prior vs. post diagnosis knowledge of carrier status on cancer stage, treatment and outcomes; implications for population screening"
• 09:45-10:30 Prof. Arthur Beaudet, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston,TX, USA – "The genomic revolution in the 21st century: Implications for reproduction"

Sponsored by the National Center for Rare Diseases of the Ministry of Science and Technology at Ben Gurion University and Soroka Medical Center

Session Chair:

• Prof. Ohad Birk, Kreitman Foundation Chair in Human Genetics, Head of the Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel Head, National Research Center for Rare / Orphan Diseases
• Dr. Amir Peleg, Head of the  Genetics Institute, Carmel Medical Center, Haifa, Israel

• 10:50-11:35 Prof. Han G. Brunner, Radboud UMC, Department of Human Genetics, Nijmegen & Maastricht University Medical Center, Maastricht, The Netherlands – "Understanding intellectual disability"
• 11:35-11:50 Prof. Michal Linial, Department of Biological Chemistry, Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel – "Severe developmental delay caused by a novel mutation in STXBP1 altering neurotransmitter release by reducing SNARE protein affinity"
• 11:50-12:05 Prof. Hanna Mandel, Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel – " COG6-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on male disorder of sex development"
• 12:05-12:20 ​Dr. Tova Hershkvotz, The Genetics Institute, Rambam Health Care Campus, Haifa, Israel – "KCNT1 -Related Epilepsy: Rare inheritance patterns, phenotypic variability and response to treatment"
• 12:20-12:35 Dr. Idit Maya, Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel – "Teaching Clinicians Practical Genomic Medicine – Our 7 Year Evaluated Experience"

Session Chair:

• Prof. Tzipora Falik-Zaccai, Head of Institute of Human Genetics,Galilee Medical Center, Nahariya, Israel.
• Prof. Orit Reish, Director of the Genetic InstituteמShamir (Assaf Harofeh) Medical Center, Zerifin, Israel

• 13:25-14:15 Dr. Nurit Bublil, National Center of Legal Medicine, Ministry of Health (Abu Kabir), Israel – "Criminal casework DNA analysis – The queen of evidence"
• 14:15-14:30 Dr. Noa Ruhrman Shahar, Genetic Institute, Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel, Israel – " Cardiogenetic clinic- our experience from 360 patients from Israeli diverse ethnic population"
• 14:30-14:45 Dr. Karin Weiss, The Genetics Institute, Rambam Health Care Campus, Haifa, Israel – "Exome Sequencing for Neurodevelopmental Disorders in Israel– Expect the Unexpected"
• 14:45-15:00 Dr. Tamar Paperna, The Genetics Institute, Rambam Health Care Campus, Haifa, Israel – "Genetic diagnosis of Autosomal Dominant Polycystic Kidney Disease in Israel: Challenges and insights"

10:00 – 15:30 ICORD Board Meeting
14:30 – 15:30 Registration and Refreshments
 
15:30 – 15:45 Opening of the conference 

• Dr. Hadar Yardeni, Head, Child development and rehabilitation, Ministry of health office, Israel
• Prof. Manuel Posada, Director of Institute of Rare Diseases Research, Instituto de Salud Carlos III President of ICORD, Spain

15:45 - 16:15 Greetings

• MK. Rabbi Yaakov Litzman, Deputy Minister of Health, Israel
• Mr. Moshe Bar-Siman-Tov, Director General, Ministry of Health, Israel

Session Chair:

• Prof. Avi Israeli, Chief Scientist, Ministry of Health, Israel
• Mr. Joff Masukawa, President, Diligentia, LLC, USA

Participants:

• Dr. Lucia Monaco, IRDiRC Chair, Italy
• Dr. David Pearce, Sanford Research USA and IRDIRC Vice - Chair, USA
• Dr. Daria Julkowska, European Joint Program Rare Diseases and IRDiRC SciSec Director, France
• Prof. Daniel Scherman, President, The French Rare Diseases Foundation, France

• Mrs. Elena Krasilnikova, Federal Scientific State Budgetary Institution “N.A. Semashko National Research Institute of Public Health ”, Council of Experts of the State Duma of the Russian Federation on Health Care for Rare (Orphan) Diseases, Russia

Session Chair:

• Dr. Itzhak 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

17:45 – 18:05 Prof. Ohad Birk, Soroka Medical Center & Ben-Gurion University of the Negev, Israel – "Rare diseases in inbred Bedouin and Jewish cohorts: from research insights to disaese prevention"

18:05 – 18:25 Prof. Annick Raas-Rothschild, Institute of Rare Diseases - Admon & Lily Safra Children Hospital, Sheba Medical Center, Israel – "Rare Diseases, Israel 2019: Past, present and future"

18:25 – 18:45 Prof. Stavit Allon Shalev, Israel – "Characteristics of genetic diseases in consanguineous populations in the genomic era"

18:45 – 19:05 Dr. Hagit Yonath, Head of the Adult Genetics Service, The Danek Gertner Institute of Human Genetics and Director of Internal Medicine A ward, Sheba Medical Center, Israel – "Clinical and molecular diagnosis of sudden death arrhythmias- a national multidisciplinary project"

19:05 – 19:25 Dr. Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy – “Primary and secondary prevention of rare diseases"

19:25 – 19:45 Ifat Sher, Israel – "Novel objective noninvasive biomarkers for retinitis pigmentosa monitoring using pupil response for focal chromatic light stimuli"

19:45 – 20:00 Dr. Asher Salmon, Head, Department of International relations, Ministry of Health, Jerusalem, Israel  – "Genotype or phenotype- rare cancers

10:00-11:00 Registration and Refreshments

Session chair: 

• Dr. Ann Nordgren, Sweden
• Dr. Adel Shalata, Director, Pediatrics and Medical Genetics, Simon Winter Institute for Human Genetics, The Bnei Zion Medical Center, Israel

11:15-11:35 Prof. Dian Donnai, Manchester Centre for Genomic Medicine & Saint Mary’s Hospital, UK – "The changing nature of diagnostics and implications for clinical services"

11:35-11:55 Dr. Cynthia Tifft, Director, the Pediatric Undiagnosed Diseases Program, NHGRI, USA – “What’s in a Name? The Approach to Diagnosis in the NIH Undiagnosed Diseases Program"

11:55-12:15 Prof. Orly Elpeleg, Department of Genetics, Hadassah Medical Center, Jerusalem – "Exome and beyond in the diagnosis of rare genetic diseases"

12:15-12:35 Prof. Ashok Gupta, Sir Padampat Mother & Child Health Institute - SMS Medical College, India - "National Policy on rare disease in India"

12:35-12:55 Prof. Arthur Beaudet, Baylor College of Medicine, Houston,TX, USA – “Single circulating trophoblast testing as a new form of noninvasive prenatal diagnosis”

12:55-13:15 Dr. Muhammad Mahajnah, Israel – “First line whole exome sequencing in Palastinian and Israeli Arab patients with neurological disorders leads to high diagnostic yield and reveals new disease genes”

Session Chair:

• Prof. Itamar Grotto, Health Ministry Deputy Director General, Israel

Participants:

13:45-14:00 Dr. David Dvir, Head of Primary Care Division, Meuhedet Health Care - "Rare disease from a family doctor's office"

14:00-14:15 Dr. Ishay Otsfeld, Medical Director, National Insurance Institute of Israel – "Rare diseases in the eye of the national insurance institute of Israel"

14:15-14:30 Dr. Yael Villa, CEO, MOH Israel - National Initiative of Precision Medicine

Session chair: 

• Dr. Joan X. Comella, CEO, Vall d´Hebron Research Institute, Barcelona, Spain

14:30-14:50 Prof. Varda Shalev, CEO,  Kahn-Sagol-Maccabi Research and Innovation Institute, Israel – "Big  Data - A   tool for  problem  solving"

14:50-15:10 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"

15:10-15:30 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" (Sponsored by: Israel Ministry of Science & Technology)

15:30-15:50 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"

15:50-16:10 Dr. Virginie Bros-Facer, France – "Capacity building programme in the European Joint Programme on Rare Diseases to address unmet needs in rare disease research education and training"

 Session Chair: 

• Mrs. Barbara Wuebbels, Chairman, Professional Patient Advocates in the Life Sciences, USA.
• Dr. Muhammad Mahajnah, Israel
• Dr. Hadar Yardeni, Head, Child development and rehabilitation, Ministry of health office, Israel

Participants:

• Mr. Yann Le Cam, Chief Executive Officer, Eurordis
• Mrs. Yonit Banet Levi, Child Developments Center, Israel
• Mrs. Alice Anane, Chairwoman of "Creutzfeldt-Jakob Disease Foundation", Israel
• Tali Kaplan, CEO Little Steps Association, Israel

16:25-17:10 Novel Approaches and Initiatives

Session Chair:

• Prof. Elon Pras, Director of the The Danek Gertner Institute of Human Genetics, Sheba Medical center, Israel
• Prof. Gheona Altarescu, Director of the Pre-Implantation Genetic Diagnosis (PGD), Department of Medical Genetics, Shaare Zedek, Jerusalem, Israel

• 16:25-16:40 Dr. Avi Fellner, Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel – "Phenotype-Based Search Using Free Online Databases Is Ineffective in Finding a Probable Genetic Diagnosis"
• 16:40-16:55 Dr. Sandra Smieszek, Genetics, Vanda Pharmaceuticals Inc., Washington DC, Washington DC, USA – "Characterization to the Genomic Landscape in SMS with Whole-Genome Sequencing"
• 16:55-17:10 Laura Diskin, Maccabi Healthcare Services, Central Laboratory, Rehovot, Israel – "A new approach to Oncogenetic counselling: "Triaging" the patients"

17:10-17:55 Prenatal Genetics

Session Chair:

• Dr. Arie Koifman, Head of medical genetics unit, Asuta Ashdod, Israel
• Dr. Josefsberg Sagi,Director of the Institute of Clinical Genetics, Kaplan, Rehovot, Israel

• 17:10-17:25 Prof. Yuval Yaron, Director at Prenatal Genetic Diagnosis Unit, Tel Aviv Sourasky Medical Center, Israel – "Maternal plasma genome-wide cell-free DNA testing can detect fetal aneuploidy in early and recurrent pregnancy loss"
• 17:25-17:40 Prof. Shohat Motti, Maccabi Genetic Institute, Israel – "Yield overpowers risk in amniocentesis performed in low-risk pregnancies: a cross-sectional and retrospective cohort study"
• 17:40 -17:55 Prof. Noam Shomron, Faculty of Medicine, Tel Aviv University, Israel – "Identifying Single Point Mutations in Non Invasive Prenatal Diagnosis"

Session chair: 

• Dr. Orna Staretz-Chacham, Soroka Medical Center, Israel

Participants: 

• Dr. Stephen C. Groft, NIH NCATS, USA
• Dr. Sergey Kutsev, Director, FSBSI Research Centre for Medical Genetics, MD, PhD, DSci, corresponding member of RAS. Chief specialist in medical genetics of Ministry of Health of Russian Federation, Russia
• Prof. Shimon Glick, Faculty of Health Sciences, Israel
• Talia Agmon, Deputy Chief Legal Counsel, Ministry of Health, Israel

Session chair: 

• Dr. Yaffa Rubinstein, National Library of Medicine, NIH, USA

Participants: 

• Mrs. Hilla Alroy, journalist
• Tal Morginstin, Medical Technology Administration, Ministry of Health, Israel

Session chair: 

• Dr. Sergey Kutsev, Director, FSBSI Research Centre for Medical Genetics, MD, PhD, DSci, corresponding member of RAS. Ministry of Healt, Chief  specialist in medical genetics of Ministry of Health of Russian Federation, 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 Sachar, Director precision medicine and genomics, Clalit research institute, Israel

Transparency and state funding of Orphan drugs

• Dr. Fernando Royo, ICORD's Treasurer & Board Member. Past Chairman, ASEBIO & Board Member, EuropaBio, Spain
• Efrat Cohen, pharma Israel, Israel

Direct access to genetics testing

• Yaniv Erlich, CSO, MyHeritage
• Prof. Lina Basel-Salmon Head, Institute of Genetics, Beilinson Hospital & Schneider Medical Center, Israel

 08:30 – 09:00 Registration and Refreshments

Session Chair: 

• Dr. Marlene E. Haffner, CEO of Haffner Associates, USA
• Dr. Nael Elias, General Director Francis hospital Nazrath, Israel

09:00 – 09:20 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”

09:20 – 09:40 Prof. Eli Sprecher, Department of Dermatology at the Tel Aviv Sourasky Medical Center, Israel – "Combing through the genetics of hair disorders"

09:40 – 10: 00 Prof. Shuang Liu, Department of Gastroenterology, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, Beijing, China – "The longterm outcomes of Cronkhite-Canada Syndrome: A Chinese experience"

10:00 – 10:20 Dr. Siyue Yu, Jc School of Public Health and Primary Care, The Chinese University of Hong Kong, China – "Gender Differences in Quality of Life among Mayasthenia Gravis Patients in China"

Session Chair: 

• Prof. Aviv Goldbart, Head, Dept. of Pediatrics B. Soroka Medical Center, Ben Gurion University, Israel
• Dr. Catarina Edfjäll, ICORD Board Member, Bern, Switzerland

10:40 – 11:00 Dr. Emilio Roldan, Div Innovation, Gador SA, Buenos Aires, Argentina – "model to develop orphan drugs at fair prices"

11:00 – 11:20 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?"

11:20 – 11:40 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"

11:40 – 12:00 Dr. Liesbeth J. Siderius, GGD IJsselland, The Netherlands – "Sustainable Development Goals, Universal Health Coverage and the Disabled Child"

12:00 – 12:20 Prof. Argov Zohar, Prof (Emeritus) of Neurology, Hadassah-Hebrew University Medical School, Jerusalem – "Modern therapeutic approaches to hereditary myopathies"

13:20 – 13:45 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? “

13:45 – 14:10 Dr. Simon Day, Clinical Trials Consulting & Training Limited, UK – "Meeting Regulatory Review and Clinical Trial Design Requirements for Rare Diseases and Orphan Products"

14:10 – 14:40 Prof. Yakov Sivan, Israel – "A National Center for a rare disease – a model to improve patient's health, quality of life and research opportunities"

14:40 – 15:05 Prof. Mats Hansson, Centre for Research Ethics & Bioethics, Uppsala University, Sweden – "The need to balance concerns about privacy and efficiency when sharing data in rare disease research"

15:05 - 15:20 Prof. Oleg Kvlividze, Georgian Foundation for Genetic and Rare Diseases - ICORD 2020 GEORGIA

 Session Chair: 

• Mrs. Barbara Wuebbels, Chairman, Professional Patient Advocates in the Life Sciences, USA.
• Dr. Manuel Katz, Patient safety, Meuhedet Health Services, Israel
• Dr. Hadar Yardeni, Head, Child development and rehabilitation, Ministry of health office, Israel

Participants:

• Mrs. Jayne Gershkowitz, Chief Patient Advocate, Amicus Therapeutics Inc, USA
• Mrs. Albina Makaeva, Genetic Russia Federation, Russia
• Dr. Maya Davidovich-Cohen, NDF Certified Patient Advocate & Chairwomen, The Israeli GNE/ HIBM association, Israel
• Inbal Engler, Children of Light (Yaldey Ha'Or), Israel
• Dr. Hilla Ben-Pazi, Neuropediatrics, Movement Disorders, Israel

Co-Chair: 

• Dr. Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
• Dr. Maja Stojilkovic, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

Professor Ada E. Yonath: Crystallography, Nobel Prize in Chemistry, Israel

• Dr. Hadar Yardeni, Head, Child development and rehabilitation, Ministry of health office, Israel 
• Stephen Groft, NIH NCATS, USA