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10th International Symposium – Health Technology Assessment and Newborn Acreening

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10th INTERNATIONAL SYMPOSIUM

HEALTH TECHNOLOGY ASSESSMENT AND NEWBORN SCREENING

April 5, 2024, Novotel Sofia

Institute for Rare Diseases traditionally hosts international symposiums on Health Technology Assessment. This year, for the 10th time, an event is scheduled to take place on April 5, 2024 (Friday) in Sofia from 09:30 am at Novotel Sofia hotel. The main theme of the symposium is “Health Technology Assessment and Newborn Screening”.

The event will feature internationally renowned lecturers from the Netherlands and Italy:

Peter Schielen, Director of the International Society for Neonatal Screening (ISNS) office, an expert in quality issues and standardization of neonatal screening, and Editor-in-Chief of the scientific journal “International Journal of Neonatal Screening”;

Dr. Marco Marchetti, Director of the National Center for Health Technology Assessment at AGENAS and responsible for coordinating the national network for newborn screening in Italy, which includes 20 regional centers and 600 laboratories, as well as leading the HTA & SNE project, aimed at developing methodology and tools for assessing health technologies applicable to newborn screening;

Dr. Domenica Taruscio, an expert in genetic and rare diseases, neonatal screening, and epidemiological registries, a member of European Network for Neonatal Screening (ENNS) and European Network for Rare Diseases (EUCERD). Dr. Taruscio is internationally recognized for developing and implementing a legislative framework establishing national screening for over 40 diseases in newborns in Italy.

The panel of lecturers from Bulgarian medical specialists includes:

• Prof. Iva Stoeva, a specialist in pediatrics, pediatric endocrinology, and metabolic diseases, Head of the laboratory for neonatal screening and functional endocrine hormonal diagnostics, as well as the National program for neonatal thyroid screening and screening program for congenital adrenal hyperplasia at SHATPD “Prof. Ivan Mitev”, Sofia;

Prof. Alexey Savov, Head of the National Genetic Laboratory, SHATOG “Maichin Dom”, an expert in molecular biology and genetics, Cooridnating the National program for neonatal screening for phenylketonuria;

Assoc. Prof. Snezhina Kandilarova, specialist in clinical immunology at the Clinic for clinical immunology with a stem cell bank, University Multiprofile Hospital for Active Treatment “Alexandrovska”, member of the Expert Clinical Immunology Council;

Assoc. Prof. Georgi Iskrov, Associate Professor in Health Economics at the Department of Social Medicine and Public Health, Medical University – Plovdiv. Since 2008, he has been part of the Institute for Rare Diseases’s team participating in numerous national and European projects. Specialist in health technology assessment with focus on innovative therapies for rare diseases. Assoc. Prof. Iskrov’s research interests are related to public health aspects of rare diseases and orphan drugs.

Prof. Rumen Stefanov, Chairman of the Commission on Rare Diseases at the Ministry of Health, the International Collaboration on Rare Diseases and Orphan Drugs (ICORD), ORPHANET representative for Bulgaria, participant in numerous European projects in the field of rare diseases and neonatal screening. Leading the Bulgarian Institute for Rare Disease’s team within Screen4Care European project, aimed at shortening the time for diagnosing rare diseases through the use of genetic screening in newborns and digital technologies utilizing machine learning and artificial intelligence.

The event brings together all stakeholders – representatives of the academic community, clinical experts, representatives of health authorities and industry, as well as representatives from the National Alliance of People with Rare Diseases.

10th International Symposium on Health Technology Assessment is part of the initiatives of the Institute for Rare Diseases supporting its main objective – improving healthcare and the lives of people with rare diseases.

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