Author Biographies

Prof. Therrell is the Director of the US National Newborn Screening and Global Resource Center and an international NBS consultant. He received his BS in chemistry from Mississippi College and his MS and PhD degrees from Florida State University. In 1997, he was awarded an honorary MD degree from Kunming Medical College, Kunming, China. In 1999, he retired as Director, Chemical Services Division at the Texas Department of Health; in 2013, he retired as a Professor of Research, Department of Pediatrics, University of Texas Health Science Center at San Antonio. He is currently an adjunct professor at UTHSCSA. While directing the Texas NBS Program, he organized and hosted the first U.S. National Newborn Screening Symposium in 1981 and the first international NBS meeting in the Western Hemisphere in 1986. He introduced computerization and robotics to the Texas NBS program and led the US federal quality assurance review team for newborn screening, and over time reviewed 45 US NBS programs. The IAEA utilized Dr. Therrell as an expert in over 25 missions to developing NBS programs in Asia, Latin America, and the Middle East. He is a founding member and first Secretariat of the International Society for Neonatal Screening (ISNS) and was its second President. In 2000, he received the prestigious ISNS Robert Guthrie Award. He was elected as a 'Special' member of ISNS and is currently working to improve and expand NBS internationally, with emphasis in Asia and Africa.
Dr. Padilla is an Emeritus Professor, College of Medicine, University of the Philippines (UP) Manila. She is an international consultant on rare diseases and newborn screening  She received her MD from UP College of Medicine. After her residency training in pediatrics at the Philippine General Hospital, she completed a fellowship in clinical genetics at the Royal Alexandria Hospital for Children in Sydney, Australia.  She also pursued a Master of Arts in Health Policy Studies from the College of Public Health, UP Manila. She is a pioneer in genetics in the Philippines and the Asia Pacific Region having established genetic services at the Philippine General Hospital and help found the Asia Pacific Society of Human Genetics. She initiated  NBS for the country and has developed a sustainable NBS system that serves as a model for developing programs. Her service to the country has included holding many key positions including Executive Director, Philippine Genome Center. Dr. Padilla has received numerous awards including being chosen as one of the 100 Most Influential Filipina Women in the World by the US-based Women’s Network. The President of the Philippines recently honored her with the title of National Scientist, National Academy of Science and Technology.  She has served as Vice President of ISNS and was awarded the prestigious ISNS Guthrie Award in 2017. She is currently working to assist developing NBS programs in the Asia Pacific Region.
Gustavo J.C. Borrajo obtained his doctorate in the field of Biological Sciences from the Faculty of Exact Sciences at the National University of La Plata (UNLP) - Argentina. He is also a Biochemist from the same faculty and serves as a Professor Chair of Pathological Biochemistry and of the Optional Subject Neonatal Screening for Congenital Diseases at the Faculty of Exact Sciences, UNLP. He is the Director of the Newborn Screening Laboratory at the Argentine Biochemical Foundation in La Plata and heads the External Quality Assurance Program for Neonatal Screening at the same institution. He was awarded the “Robert Guthrie Award 2015” by the International Society for Neonatal Screening.
Issam Khneisser studied chemistry at the Lebanese University followed by genetics, community health, epidemiology and biostatistics, and environmental and water sciences. He received his MBA degree from Sorbonne University in Paris. In 2015, he received his IUD-Inborn error of metabolism from the faculty of Medicine-Paris V. Mr. Khneisser has been involved in neonatal screening for over 20 years as manager of the Neonatal Screening Unit at the Saint Joseph University, Beirut, Lebanon after his training at the Nord-Pas de Calais Neonatal Screening Regional Center, Lille France. He has (co-)authored several publications on neonatal screening in Lebanon and represented the Middle East North Africa region in a 2015 publication on worldwide newborn screening. Mr. Khneisser has served on the ISNS Executive Council as the Middle East representative for two mandates 2013-2016 and 2016-2019. He was among the pioneers in the Middle East and North Africa region to start newborn screening and has been trained in many newborn screening platforms around the world (CDC-Atlanta,..) contributing to the transfer of know-how for many countries in the MENA region. Since June 2018 till now, he is supporting closely ALL the newborn screening laboratory in the MENA region and beyond when needed regarding LC-MSMS newborn screening applications. He contributes to the quality of the newborn screening laboratory performance sharing his experience acquired during his 29 year career.
Dr. Schielen is a senior scientist at the National Institute of Public Health and the Environment, Centre for Population Screening, in Bilthoven, The Netherlands. He has a background in prenatal screening for Down’s syndrome and adverse pregnancy outcomes and neonatal screening for metabolic and other disorders. He earned his PhD from Utrecht University in the Netherlands. Since 2020, he has been the quality assurance and science coordinator for a program focusing on breast, cervical, and colon cancer screening in the Caribbean part of the Netherlands. Implementing screening programs in a setting with limited resources brings together his passion for screening and global health and contributes to more equity in public health worldwide, with responsible choices to make the programs accessible for all, respecting local values, local circumstances, and proper monitoring and evaluation. To establish this, he is seconded to the Julius Centre of the Utrecht University Medical Centre, the Netherlands. In another capacity, he is also the office manager of the International Society of Neonatal Screening (ISNS). The ISNS, with 470 professional members globally, invests in building bridges to support screening programs in LMIC countries. For the ISNS, he is involved in activities to establish more equity in neonatal screening among European (EU member) states but also globally. He is also Editor-in-Chief of the International Journal of Neonatal Screening.
Jennifer Knight-Madden is a Senior Academic and former director (2014-2021) at the Sickle Cell Unit, Caribbean Institute for Health Research, The University of the West Indies (UWI). She is a Professor of Pediatric Pulmonology and Clinical Research, she received her medical degree from the UWI medical school and training in Pediatrics at the Hospital for Sick Children, Toronto. She completed Fellowship training in Pediatric Pulmonology at Duke University Medical Center, also obtaining an MSc in Biometry there, a PhD in Clinical Research from King’s College, London, and a Certificate in Implementation Science at the University of California, San Francisco). She is active in national and international SCD Organizations: Sickle Cell Technical Working Group (Co-Chair); the Caribbean Network of Researchers in Sickle Cell Disease and Thalassemia (Vice President); National Institutes of Health Data Safety Monitoring Boards for studies in Africa (Chair of two Boards); Scientific Committee for Global SCD Congresses; SCIF Conferences Co-Chair.  A Pediatric Pulmonologist, her research interests are the pulmonary complications of SCD, asthma, health services, and implementation science, particularly as applied to the improvement of SCD newborn screening. Prof Knight-Madden chairs the Advisory Panel on Ethics and Medico-Legal Affairs, Ministry of Health and Wellness.
Helen L. Malherbe is a Director of Rare Diseases South Africa (RDSA) NPO and an Extraordinary Associate Professor, Centre for Human Metabolomics, North-West University, South Africa. She completed her undergraduate degree in biological sciences at the University of Worcester, UK and an MSc at the University of Birmingham, UK. She joined the rare disease community in 2004 after losing her first child to Trisomy 18. Helen completed a PhD at the University of KwaZulu Natal (UKZN) investigating the renewed need for the care and prevention of congenital disorders in South Africa, followed by four years Post-doc at UKZN and a year at the University of Pretoria. In January 2023 she was appointed as Extraordinary Associate Professor at the Center for Metabolomics, North-West University. Helen led the Genetic Alliance South Africa NPO from 2014-2020 and has worked as a Director of RDSA overseeing Research and Epidemiology since April 2020. She is dedicated to building a robust evidence base as a foundation for advocating for improved medical genetic services for all South Africans and to globally addressing similar constraints in other LMIC. She is currently upskilling in health economics to undertake cost effectiveness work in South Africa, starting with NBS for congenital hypothyroidism. She is the contact point/curator of the Modell Global Database, a technical consultant to WHO and involved in many other relevant local and global projects.
Marika Kase (Business Director, Strategic Initiatives) is an international business leader and healthcare executive. She has been employed by Revvity (previously affiliated with PerkinElmer) since 1999 and has broad experience in Diagnostics and Newborn Screening. Through her work experience she has obtained a deep understanding of NBS processes and criteria from both regional and global perspectives. Marika holds a Master of Science in Biochemistry from the University of Turku, Finland, and an executive MBA at the Turku School of Economics, an international joint program between TSE exe and McCombs School of Business, the University of Texas at Austin, and the Chinese University of Hong Kong. In December 2020, the Executive Board of the IFCC selected Marika Kase as Member of the Task Force on Global Newborn Screening (TF-NBS). Her time in office started January 2021, and ends December 31st, 2026. She has been actively involved in expanding NBS in Africa and assisting with the Asia Pacific expansion of NBS in countries with developing economies.
clear