Konuşmacılar

 



 



 



 



Dr Christina Lampe, MD
University of Gießen, Germany
Christina Lampe is the builder and leader of the lysosomal unit at the Centre for Rare Diseases of the Department of Child Neurology, Epileptology and Social medicine, Center for Paediatric and Adolescent Medicine at the University hospital of Gießen (ZSEGI), Germany since October 2018.

Dr Lampe’s main interests are craniocervical stenosis and skeletal problems in MPS. After her works with 150 paediatric and adult MPS patients in Villa Metabolica at the Department of Paediatric and Adolescent Medicine and University Medical Centre of the Johannes Gutenberg-University of Mainz, In January 2014, together with Professor Maurizio Scarpa, Dr Lampe also set up a Centre for Rare Diseases at the Dr Horst Schmidt Kliniken in Wiesbaden, Germany.

Dr Lampe is an investigator and co-investigator on several Phase III and Phase I/ II trials as well as for a number of observational studies. Her research has been published in journals including the Journal of Inherited Metabolic Disease, Rheumatology, Molecular Genetics and Metabolism, PLOS ONE and Orphanet. She is a member of the CSP Publishing Board, the ASIM and APS (German metabolic societies). She is a Scientific Advisor for the German MPS Society and Medical Advisor of the Brains for Brain Foundation. She is one of the authors of the 2011 European recommendations on the diagnosis and multi-disciplinary management of MPS II.

Bilimsel Program
  • 25 KASIM 2021-Perşembe
  • 14.15-15.00

Uydu Sempozyum-Changing MPS-II Patients’ Horizon with Long Term Elaprase Experience

Oturum Başkanı: Dr. Gülden Gökçay

MPS-II Treatment Efficacy and Safety with Long Term Real World Evidence and HOS 2021 Update
Konuşmacı: Dr. Christina Lampe

Future on the Horizon with Long Term Elaprase Experience: A Patient Case
Konuşmacı: Dr. Mehmet Cihan Balcı

 
Dr Shoshana Revel-Vilk

Director of the Gaucher Unit, senior physician in the Hematology/Oncology Unit at Shaare Zedek Medical Centre and Associate Professor of Paediatrics at the Shaare Zedek Medical Center, affiliated with Hebrew University Medical-School, Jerusalem, Israel. Fellowship in Paediatric Haematology/Oncology and Paediatric Thrombosis and Haemostasis at The Hospital for Sick Children, Toronto, Canada, in 1999–2002. She has extensive experience in paediatric haematology and oncology; from 2002-2017, Professor Revel-Vilk has worked within the Paediatric Haematology Centre at Hassadah Medical Center, Jerusalem. During this time, Professor Revel-Vilk’s research focused upon paediatric bleeding and clotting disorders. Since joining the Gaucher Unit at Shaare Zedek Medical Center in September 2017, Professor Revel-Vilk has been involved at the forefront of Gaucher research and has co-authored articles on the management of patients with Gaucher disease.

Currently, Professor Revel-Vilk is the and board member of the interntational Working Group for Gaucher Disease (IWGGD), secretary role. Professor Revel-Vilk completed an MSc in Clinical Epidemiology and currently is enrolled in a PhD programme in public health. Her Ph.D. thesis involves developing an algorithm for early diangoiss of Gaucher disease unsing real-world data aiming to shorten the time to diagnosis as well as to avoid misdiagnosis.

Contact information:
Gaucher unit, Shaare Zedek Medical Center, POB 3235, Jerusalem 9103102. Tel: 972-2-6555143, 972-50-8573180. E-mail: srevelvilk@gmail.com, svilk@szmc.org.il

Bilimsel Program
  • 26 KASIM 2021-Cuma
  • 14.15-15.00

Uydu Sempozyumu-Velaglucerase Alpha Experience from Turkey & Abroad

Oturum Başkanı: Dr. Sema Kalkan Uçar

Konuşmacılar: Dr. Shoshana Revel-Vilk, Dr. Deniz Kor

 
Alexander Solyom, MD
Pediatrician with real-world expertise rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. 13 years clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development.

Company, Program, and Project level leadership and accountability in international biotech startup setting including build-out, operations, due diligence and program development. Strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affairs. Experience and understanding of conduct of clinical studies and access to therapies across geographies, cultures and in clinical centers with varying levels of experience and resource availability.

Architect of rhAC clinical development program from its inception. Responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA. Focus on delivering benefit to patients and other stakeholders efficiently and effectively.

Bilimsel Program
  • 27 KASIM 2021-Cumartesi
  • 11.15-12.00

Uydu Sempozyum-Changing MPS-II Patients’ Horizon with Long Acid Ceramidase Deficiency: New Perspectives on a Broad Phenotypic Spectrum

Oturum Başkanları: Dr. Leyla Tümer, Dr. Halil İbrahim Aydın

Konuşmacı: Dr. Alexander Solyom

JULİA B. HENNERMANN
Mainz Üniversitesi Tıp Merkezi
Villa Metabolica (Konjenital Metabolik Hastalıklar Bölümü) Başkanı
Julia B. Hennermann eğitimini Frankfurt / Main Üniversite Hastanesi Çocuk Kliniğinde ve Charité Berlin Üniversitesi Tıp Merkezi'nde konjenital metabolik hastalıklar konusunda uzmanlaşmış bir çocuk doktoru olarak aldı. 2003'ten 2013'e kadar Berlin'deki Charité Üniversitesi Tıp Merkezi'nde Pediatrik Metabolik Tıp başkanıydı. 2013'ten beri Mainz Üniversitesi Tıp Merkezi'ndeki Çocuk ve Ergen Tıbbı Merkezi'nde Konjenital Metabolizma Hastalıkları Bölümünün, "Villa Metabolica"nın başkanlığını yapmaktadır. 2015 yılından itibaren milletvekili olarak görev yapmaktadır. Mainz Üniversitesi Tıp Merkezi Nadir Hastalıklar Merkezi Sözcüsü. Prof. Hennermann, lizozomal depo hastalıklarına odaklanarak konjenital metabolik hastalıklar konusunda uzmanlaşmıştır.

Bilimsel Program
  • 25 KASIM 2021-Perşembe
  • 11.15-12.00

Alfa-mannosidosis (AM) Management Algorithm and the Role of Velmanase Alfa in AM Management. Monitoring AM Progression & Treatment Outcome

Oturum Başkanları: Dr. Mahmut Çoker, Dr. Fatih Süheyl Ezgü
Konuşmacı: Dr. Julia Hennermann

Dr. Julie Eisengart
Associate Professor, Department of Pediatrics
Faculty Member, Division of Clinical Behavioral Neuroscience
Director, Neurodevelopmental Program in Rare Disease
Faculty Member, Center for Neurobehavioral Development
Team Member, Mucopolysaccharidosis (MPS) Center
Team Member, Leukodystrophy Center
Pediatric Neuropsychologist

Dr. Julie Eisengart is an Associate Professor in the Department of Pediatrics and the Director of the Neurodevelopmental Program in Rare Disease. As a pediatric neuropsychologist, she specializes in rare neurodegenerative disorders of childhood as well as a range of complex medical conditions, and she works with patients from infancy to young adulthood. Her clinical interests include assessing the strengths and needs of children affected by complex medical diagnoses, throughout their medical journeys, to optimize whole-child, whole-family care and supports. As a clinical supervisor and mentor, she values her role in training future psychologists and supporting their development into independent, balanced professionals.

Dr. Eisengart’s research focuses on the changing relationships between brain structure, biochemical abnormalities, and brain function in rare disease, with the goal of predicting outcomes and improving supportive planning. She has been heavily involved in examining outcomes of early diagnosis, newborn screening, and/or novel therapies for rare disease. Her research extends to defining and measuring aspects of disease that are under-represented in the clinical and research communities but are important and meaningful to patients and their families, such as neurobehavioral symptoms and the caregiver lived experience.

Bilimsel Program
  • 27 KASIM 2021-Cumartesi
  • 16.15-17.00

Prof. Dr. Alev Hasanoğlu KonuşmasıDr. Leyla Tümer, Dr. Fatih Süheyl Ezgü
Assessment of Neurocognitive and Neurobehavioral Aspects of MPS
Konuşmacı: Dr. Julie Eisengart

Moeen AlSayed, M.D, FACMG, MBA
Professor of Genetics, College of Medicine, Alfaisal University,
Director, MSc Genetic Counselling Program, Alfaisal University
Chairman, Department of Medical Genetics
King Faisal Specialist Hospital & Research Center

Prof. AlSayed is Chairman of the Department of Medical Genetics at King Faisal Specialist Hospital, and Professor of Genetics at Al-Faisal University in Riyadh, Kingdom of Saudi Arabia. Professor AlSayed is also the Director of the Genetic Counselling Service at King Faisal Specialist Hospital and MSc Genetic Counselling Programme at Al-Faisal University. He has established a Postgraduate Genetic Counselling Programme at King Faisal Specialist Hospital to train Saudi and Arab nationals in this field and to promote this specialty across the Middle East.

He obtained his Bachelor’s degree in Medicine and Surgery (MBBS) from the Faculty of Medicine, King Saud University, Riyadh. He completed his paediatric residency at Yale–New Haven Children’s Hospital, and gained his fellowship in clinical genetics and clinical biochemical genetics at Baylor College of Medicine, Houston, TX, USA. Prof. AlSayed has an MBA from the University of Tennessee, Knoxville, TN, USA.

His interests include identification of founder mutations related to metabolic and genetic disorders in the Saudi population, screening and treatment of lysosomal storage diseases (LSDs) and the management of organic acidurias. Prof. AlSayed is a founding member of the Middle Eastern Metabolic Group (MEMG), the Saudi Pediatric Association – Medical Genetics Subcommittee, the Saudi Charitable Society for Genetic Disorders, the Saudi Society of Medical Genetics and the Middle Eastern Lysosomal Storage Diseases Expert Council (MELSDEC).

Bilimsel Program
  • 27 KASIM 2021-Cumartesi
  • 17.00-17.45

Oturum Başkanları: Dr. Mustafa Kılıç, Dr. Aynur Küçükçongar Yavaş
Lysosomal Storage Disorders in the Middle East: Unmet Needs and Challenges
Konuşmacı: Dr. Tawfeg Ben-Omran
Gaucher Disease: A Deeper Look İnto the Less Common Complications
Konuşmacı: Dr. Moeen Alsayed

Tawfeg Ben-Omran, MD, FRCPS, FCCMG, FACMG
Attending Physician, Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation
Division Chief , Genetics and Genomic Medicine, Sidra Medicine
Associate Professor, Weill Cornell Medicine in Qatar
Doha, Qatar

Dr. BEN-OMRAN received his speciality training in clinical &metabolic genetics at the Hospital for Sick Children, University of Toronto, Canada. He has obtained both FRCPS & FCCMG in Medical Genetics in 2006. Currently, he is a senior consultant and Division Chief, Genetic and Genomic Medicine at Sidra Medicine. He is an Associate Professor at Weill Cornell Medicine-Qatar & New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.

He contributes to the body of published knowledge in clinical and metabolic genetics, with over 100 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.

He is an active clinical researcher, collaborating on projects with local, regional & international communities. He is a lead primary investigator in many high profile research projects & clinical trials to evaluate the long-term effects of enzyme replacement therapy in patients with different lysosomal storage disorders. Also a primary investigator in Nurture Trial for Spinal Muscular Atrophy. His main scientific interests include genetics of brain malformation& microcephaly, white matter disorders, dysmorphology, autosomal recessive disorders. In addition, Dr. Ben-Omran is an external advisor and expert for E-HOD (European registry and network for homocystinurias and methylation defects).

He is recognized as an expert in genetic disorders of the Arab population. His national &international presence is clear. He received Research Award from MRC-HMC for Homocystinuria project and Stars of Excellence Award 2011 for both Pioneering Newborn Screening &specialized care of Genetic Diseases in the Middle East. Recently, awarded the Stars of Excellence in research 2014:Cutting Edge of Research in Medical Genetics.

He has memberships in many societies including: American Society of Human Genetics, European Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism, Middle East Metabolic Genetic Group, the Middle East &North Africa Newborn Screening Initiative, Middle Eastern Lysosomal Storage Diseases Expert Council Advisory Board, Child Health Research Advisory Committee, International Society for Prenatal Diagnosis, Chairman of Middle East Metabolic Dieticians Group &Founder Member &Regional Representative of SSIEM Adult Metabolic Physicians Group.

Bilimsel Program
  • 27 KASIM 2021-Cumartesi
  • 17.00-17.45

Oturum Başkanları: Dr. Mustafa Kılıç, Dr. Aynur Küçükçongar Yavaş
Lysosomal Storage Disorders in the Middle East: Unmet Needs and Challenges
Konuşmacı: Dr. Tawfeg Ben-Omran
Gaucher Disease: A Deeper Look İnto the Less Common Complications
Konuşmacı: Dr. Moeen Alsayed



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